ABCA1
Coloration (feathers)
Cholesterol metabolism
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Attie AD; Hamon Y; Brooks-Wilson AR ; et al. (2002)
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of t[...]
GP00001682
Abca1
P41233
Morphology; Physiology
Morphology; Physiology
amino acid substitution at a residue that is conserved in the ABCA1 gene between human; mouse; chicken; and Takifugu rubripes. Generation of a mouse ABCA1 protein with the mutation disrupts protein function. N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
ABCA1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Indel
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000002
ABCA2
A0A0S0G7V0
Physiology
65bp indel in exon16 inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000003
ABCA2
A0A0S0G7V0
Physiology
5bp deletion inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000004
ABCA2
A0A0S0G7V0
Physiology
5bp (GAATA) nucleotide duplication inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Trichoplusia ni
cabbage looper - (species) D
Intraspecific
Linkage Mapping
Yang X; Chen W; Song X ; et al. (2019)
Mutation of ABC transporter ABCA2 confers resistance to Bt toxin Cry2Ab in Trichoplusia ni.
GP00002054
ABCA2
A0A0S0G7V0
Physiology
insertion of a transposon Tntransib (2581 bp) in ABCA2 which changes splicing sites in the transcript and lead to an indel in the coding region: change of 1551VETLAHALGFLRHLDKR1567 into 1551AHWGK- LYGSNTQN1563 N
Trichoplusia ni
cabbage looper - (species)
Trichoplusia ni
cabbage looper - (species) D
ABCA2
Trichoplusia ni
cabbage looper - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Helicoverpa punctigera
(species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00002056
ABCA2
A0A0S0G7V0
Physiology
14bp deletion resulting in missense mutations. N
Helicoverpa punctigera
(species)
Helicoverpa punctigera
(species) D
ABCA2
Helicoverpa punctigera
(species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Candidate Gene
Mathew LG; Ponnuraj J; Mallappa B ; et al. (2018)
ABC transporter mis-splicing associated with resistance to Bt toxin Cry2Ab in laboratory- and field-[...]
GP00002057
ABCA2
A0A0S0G7V0
Physiology
loss of exon 6 caused by alternative splicing N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
ABCA2
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab)
Coding,
Insertion
N
Trichoplusia ni
cabbage looper - (species) D
Intraspecific
Linkage Mapping
Yang X; Chen W; Song X ; et al. (2019)
Mutation of ABC transporter ABCA2 confers resistance to Bt toxin Cry2Ab in Trichoplusia ni.
GP00002467
ABCA2
Q9BZC7
Physiology
insertion of a 2581-bp transposon Tntransib in ABCA2. This insertion disrupts splicing sites and leads to indels in the protein sequence. CRISPR ABCA2 mutants are highly resistant to Cry2Ab. N
Trichoplusia ni
cabbage looper - (species)
Trichoplusia ni
cabbage looper - (species) D
ABCA2
Trichoplusia ni
cabbage looper - (species)
Published - Accepted by Curator
ABCB1
Plant size (dwarfism)
Coding,
Insertion
N
Sorghum bicolor
sorghum - (species)
Domesticated
Candidate Gene
Multani DS; Briggs SP; Chamberlin MA ; et al. (2003)
Loss of an MDR transporter in compact stalks of maize br2 and sorghum dw3 mutants.
GP00000007
ABCB1
Q9ZR72
Morphology
882bp direct duplication in exon 5 of the dw3 allele driving loss-of-function N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
ABCB1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
ABCB1
Xenobiotic resistance (insecticide; Bt Cry3Aa toxin)
Coding,
Deletion
N
Chrysomela tremula
(species) D
Intraspecific
Candidate Gene
Pauchet Y; Bretschneider A; Augustin S ; et al. (2016)
A P-Glycoprotein Is Linked to Resistance to the Bacillus thuringiensis Cry3Aa Toxin in a Leaf Beetle[...]
GP00002466
ABCB1
P08183
Physiology
a four-base-pair deletion at position 1561 introducing a frame shift with a premature stop codon leading to loss of the TpM1 transporter motif as well as the complete second transmembrane domain N
Chrysomela tremula
(species)
Chrysomela tremula
(species) D
ABCB1
Chrysomela tremula
(species)
Published - Accepted by Curator
Abcb4
Biliary Phospholipid Level (low)
Coding,
Unknown
N
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000008
Abcb4
P21440
Physiology
pseudogenization N
Mammalia
mammals - (class)
Cavia porcellus
domestic guinea pig - (species)
Abcb4
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
Abcb4
Biliary Phospholipid Level (low)
Coding,
Unknown
N
Equus caballus
horse - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000009
Abcb4
P21440
Physiology
pseudogenization N
Mammalia
mammals - (class)
Equus caballus
horse - (species)
Abcb4
Equus caballus
horse - (species)
Published - Accepted by Curator
ABCC11
Apocrine secretion (ear wax type ; axillary odor)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Yoshiura K; Kinoshita A; Ishida T ; et al. (2006)
A SNP in the ABCC11 gene is the determinant of human earwax type.
1 Additional References
GP00000010
ABCC11
Q96J66
Physiology
1 a.a. polymorphism considered best candidate - c.538G>A - G180R in the ATP-binding cassette
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABCC11
Homo sapiens
human - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Insertion
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Atsumi S; Miyamoto K; Yamamoto K ; et al. (2012)
Single amino acid mutation in an ATP-binding cassette transporter gene causes resistance to Bt toxin[...]
GP00000011
ABCC2
A0A0E3ZDK3
Physiology
1a.a. insertion at codon 234 (Tyr)
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
ABCC2
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Gahan LJ; Pauchet Y; Vogel H ; et al. (2010)
An ABC transporter mutation is correlated with insect resistance to Bacillus thuringiensis Cry1Ac to[...]
GP00000012
ABCC2
A0A0E3ZDK3
Physiology
22bp deletion N
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
ABCC2
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Linkage Mapping
Baxter SW; Badenes-Pérez FR; Morrison A ; et al. (2011)
Parallel evolution of Bacillus thuringiensis toxin resistance in lepidoptera.
GP00000013
ABCC2
A0A0E3ZDK3
Physiology
30bp deletion N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
ABCC2
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt toxins)
Coding,
Deletion
N
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Linkage Mapping
Park Y; González-Martínez RM; Navarro-Cerrillo G ; et al. (2014)
ABCC transporters mediate insect resistance to multiple Bt toxins revealed by bulk segregant analysi[...]
GP00001439
Physiology
About 500 nt genomic deletion over 2 exons involving 246 nt coding 82aa N
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
ABCC2
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt toxins)
Coding,
Complex Change
N
Spodoptera frugiperda
fall armyworm - (species) D
Intraspecific
Candidate Gene
Banerjee R; Hasler J; Meagher R ; et al. (2017)
Mechanism and DNA-based detection of field-evolved resistance to transgenic Bt corn in fall armyworm[...]
1 Additional References
GP00002461
MRP1
H8YF43
Physiology
A nine-base deletion (position 39–47) and a two-base insertion (GC at position 2218) lead to a frameshift and the occurrence of a premature stop codon. The truncated protein is 746 amino acids whereas the ABCC2 of the susceptible strain encodes a protein of 1349 amino acids. N
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species) D
ABCC2
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt toxins)
Coding,
Complex Change
N
Spodoptera frugiperda
fall armyworm - (species) D
Intraspecific
Candidate Gene
Boaventura D; Ulrich J; Lueke B ; et al. (2020)
Molecular characterization of Cry1F resistance in fall armyworm, Spodoptera frugiperda from Brazil.
GP00002462
MRP1
H8YF43
Physiology
two mutations in the extracellular loop 4 (ECL4) of ABCC2: a deletion of two amino acids (GY) at positions 788 and 789 and the change of a proline to either lysine or arginine at position 799. Expression of mutated ABCC2 in insect cells confirmed the role of these mutations in toxin binding. N
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species) D
ABCC2
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
ABCG2
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Cohen-Zinder M; Seroussi E; Larkin DM ; et al. (2005)
Identification of a missense mutation in the bovine ABCG2 gene with a major effect on the QTL on chr[...]
1 Additional References
GP00000015
Abcg2
Q7TMS5
Physiology
Tyr581Ser
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
ABCG2
Bos taurus
cattle - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homininae
(subfamily)
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000017
ABO
P16442
Physiology
Gly268 (group A) <-> Ala (group B)
Homininae
(subfamily)
Homininae
(subfamily)
ABO histo blood group glycosyltransferase
Homininae
(subfamily)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homininae
(subfamily)
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000018
ABO
P16442
Physiology
Leu266 (group A) <-> Met (group B)
Homininae
(subfamily)
Homininae
(subfamily)
ABO histo blood group glycosyltransferase
Homininae
(subfamily)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000019
ABO
P16442
Physiology
1bp deletion (258G) resulting in frameshift N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Yamamoto F; McNeill PD; Yamamoto M ; et al. (1993)
Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele.
1 Additional References
GP00000020
ABO
P16442
Physiology
Arg176+Gly268 (group A) <-> Gly176+Arg268 (group O03 = weak AB allele rather than complete loss-of-function)
two nucleotide substitutions at nt. 526 and nt. 802. The authors have not examined whether both amino acid substitutions are necessary to disrupt the enzymatic activity or if one of them is sufficient. Nevertheless they assume that the single amino acid substitution at aa. 268 (glycine+arginine) may be crucial for their nullifying effect.
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005)
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
1 Additional References
GP00000021
ABO
P16442
Physiology
1bp insertion resulting in premature stop codon N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005)
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
1 Additional References
GP00000022
ABO
P16442
Physiology
1bp change resulting in stop codon N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Unknown
Pan troglodytes
chimpanzee - (species)
Intraspecific
Candidate Gene
Kermarrec N; Roubinet F; Apoil PA ; et al. (1999)
Comparison of allele O sequences of the human and non-human primate ABO system.
GP00000023
ABO
P16442
Physiology
Uncertain; possibly 9bp deletion resultin in 3a.a. deletion
Pan troglodytes
chimpanzee - (species)
Pan troglodytes
chimpanzee - (species)
ABO histo blood group glycosyltransferase
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
ACD6 = ACCELERATED CELL DEATH 6
Plant size
Pathogen resistance (plant microbes)
Herbivore resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Todesco M; Balasubramanian S; Hu TT ; et al. (2010)
Natural allelic variation underlying a major fitness trade-off in Arabidopsis thaliana.
1 Additional References
GP00000025
ACD6
Q8LPS2
Physiology
Physiology
Physiology
Various
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ACD6 = ACCELERATED CELL DEATH 6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; cyclic ketoenol)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Lueke B; Douris V; Hopkinson JE ; et al. (2020)
Identification and functional characterization of a novel acetyl-CoA carboxylase mutation associated[...]
1 Additional References
GP00002513
ACC
Q7JV23
Physiology
A2083V
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
acetyl-CoA carboxylase (ACC)
Bemisia tabaci
(species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spiromesifen)
Coding,
SNP
Trialeurodes vaporariorum
greenhouse whitefly - (species) D
Intraspecific
Candidate Gene
Karatolos N; Williamson MS; Denholm I ; et al. (2012)
Resistance to spiromesifen in Trialeurodes vaporariorum is associated with a single amino acid repla[...]
1 Additional References
GP00002556
ACC
Q7JV23
Physiology
E645K
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Trialeurodes vaporariorum
greenhouse whitefly - (species) D
acetyl-CoA carboxylase (ACC)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Singh KS; Cordeiro EMG; Troczka BJ ; et al. (2021)
Global patterns in genomic diversity underpinning the evolution of insecticide resistance in the aph[...]
GP00002616
ACC
Q7JV23
Physiology
a single non-synonymous mutation (gCt > gTt) resulting in an alanine to valine substitution in a highly conserved region of the ACC carboxyltransferase (CT) domain
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
acetyl-CoA carboxylase (ACC)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Caenorhabditis elegans
(species) D
Experimental Evolution
Linkage Mapping
Guest M; Kriek N; Flemming AJ (2020)
Studies of an insecticidal inhibitor of acetyl-CoA carboxylase in the nematode C. elegans.
GP00002617
ACC
Q7JV23
Physiology
A1559V
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
acetyl-CoA carboxylase (ACC)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Caenorhabditis elegans
(species) D
Experimental Evolution
Linkage Mapping
Guest M; Kriek N; Flemming AJ (2020)
Studies of an insecticidal inhibitor of acetyl-CoA carboxylase in the nematode C. elegans.
GP00002618
ACC
Q7JV23
Physiology
A1847V
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
acetyl-CoA carboxylase (ACC)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Weill M; Malcolm C; Chandre F ; et al. (2004)
The unique mutation in ace-1 giving high insecticide resistance is easily detectable in mosquito vec[...]
GP00000026
Ace
P07140
Physiology
G119S
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
Acetylcholinesterase (Ace-1)
Anopheles albimanus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000027
Ace
P07140
Physiology
G119S
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000028
Ace
P07140
Physiology
Gly119Ser (119 is the corresponding position in Torpedo) - GGC to AGC
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000029
Ace
P07140
Physiology
Gly119Ser (119 is the corresponding position in Torpedo) - GGC to AGC
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
1 Additional References
GP00000030
Ace
P07140
Physiology
F331W
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
Acetylcholinesterase (Ace-1)
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex vishnui
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
GP00000031
Ace
P07140
Physiology
G119S
Culex vishnui
(species)
Culex vishnui
(species) D
Acetylcholinesterase (Ace-1)
Culex vishnui
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
3 Mutations:
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Shang Q; Pan Y; Fang K ; et al. (2014)
Extensive Ace2 duplication and multiple mutations on Ace1 and Ace2 are related with high level of or[...]
4 Additional References
GP00000036
Ace
P07140
Physiology
3 mutations
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace-1)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
2 Additional References
GP00002013
Ace
P07140
Physiology
A201S
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Nabeshima T; Kozaki T; Tomita T ; et al. (2003)
An amino acid substitution on the second acetylcholinesterase in the pirimicarb-resistant strains of[...]
GP00002015
Ace
P07140
Physiology
Ser431Phe (position 331 in mature Torpedo protein)
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
Acetylcholinesterase (Ace-1)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Chilo suppressalis
striped riceborer - (species) D
Intraspecific
Candidate Gene
Jiang X; Qu M; Denholm I ; et al. (2009)
Mutation in acetylcholinesterase1 associated with triazophos resistance in rice stem borer, Chilo su[...]
GP00002453
Ace
P07140
Physiology
an amino acid mutation A314S in Ch-ace1 (corresponding to A201S in Torpedo californica AChE) was consistently associated with the occurrence of resistance
Chilo suppressalis
striped riceborer - (species)
Chilo suppressalis
striped riceborer - (species) D
Acetylcholinesterase (Ace-1)
Chilo suppressalis
striped riceborer - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Lee DW; Choi JY; Kim WT ; et al. (2007)
Mutations of acetylcholinesterase1 contribute to prothiofos-resistance in Plutella xylostella (L.).
3 Additional References
GP00002454
Ace
P07140
Physiology
2 mutations
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
Acetylcholinesterase (Ace-1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Mavridis K; Papapostolou KM; Ilias A ; et al. (2022)
Next-generation molecular diagnostics (TaqMan qPCR and ddPCR) for monitoring insecticide resistance [...]
GP00002512
Ace
P07140
Physiology
F331W
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
Acetylcholinesterase (Ace-1)
Bemisia tabaci
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002571
Ace
P07140
Physiology
S119G
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
2 Additional References
GP00002572
Ace
P07140
Physiology
G328A
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Khajehali J; Van Leeuwen T; Grispou M ; et al. (2010)
Acetylcholinesterase point mutations in European strains of Tetranychus urticae (Acari: Tetranychida[...]
1 Additional References
GP00002573
Ace
P07140
Physiology
F331W
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002574
Ace
P07140
Physiology
D128E
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Li F; Han Z (2004)
Mutations in acetylcholinesterase associated with insecticide resistance in the cotton aphid, Aphis [...]
3 Additional References
GP00002577
Ace
P07140
Physiology
A201S
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace-1)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cydia pomonella
codling moth - (species) D
Intraspecific
Candidate Gene
Cassanelli S; Reyes M; Rault M ; et al. (2006)
Acetylcholinesterase mutation in an insecticide-resistant population of the codling moth Cydia pomon[...]
1 Additional References
GP00002580
Ace
P07140
Physiology
F399V = F290V
Cydia pomonella
codling moth - (species)
Cydia pomonella
codling moth - (species) D
Acetylcholinesterase (Ace-1)
Cydia pomonella
codling moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Hadjivassilis A ; et al. (2007)
A new amino-acid substitution in acetylcholinesterase 1 confers insecticide resistance to Culex pipi[...]
1 Additional References
GP00002581
Ace
P07140
Physiology
F290V
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002587
Ace
P07140
Physiology
S329(228)P
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-1)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Kwon Deok Ho; Cha Deok Jea; Kim Young Ho ; et al. (2012
)
Cloning of the acetylcholinesterase 1 gene and identification of point mutations putatively associat[...]
1 Additional References
GP00002589
Ace
P07140
Physiology
F330S
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Kwon Deok Ho; Cha Deok Jea; Kim Young Ho ; et al. (2012
)
Cloning of the acetylcholinesterase 1 gene and identification of point mutations putatively associat[...]
1 Additional References
GP00002590
Ace
P07140
Physiology
F331H
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus kanzawai
(species) D
Intraspecific
Candidate Gene
Aiki Yasuhiko; Kozaki Toshinori; Mizuno Hiroshi ; et al. (2005
)
Amino acid substitution in Ace paralogous acetylcholinesterase accompanied by organophosphate resist[...]
1 Additional References
GP00002591
Ace
P07140
Physiology
F331W
Tetranychus kanzawai
(species)
Tetranychus kanzawai
(species) D
Acetylcholinesterase (Ace-1)
Tetranychus kanzawai
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002592
Ace
P07140
Physiology
F331C
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus evansi
red spider mite - (species) D
Intraspecific
Candidate Gene
Carvalho Renato; Yang Yihua; Field Linda M ; et al. (2012
)
Chlorpyrifos resistance is associated with mutation and amplification of the acetylcholinesterase-1 [...]
1 Additional References
GP00002593
Ace
P07140
Physiology
F331W/Y
Tetranychus evansi
red spider mite - (species)
Tetranychus evansi
red spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus evansi
red spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Laodelphax striatellus
small brown planthopper - (species) D
Intraspecific
Candidate Gene
Zhang Yueliang; Li Shuo; Xu Lu ; et al. (2013
)
Overexpression of carboxylesterase-1 and mutation (F439H) of acetylcholinesterase-1 are associated w[...]
1 Additional References
GP00002594
Ace
P07140
Physiology
F331H
Laodelphax striatellus
small brown planthopper - (species)
Laodelphax striatellus
small brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Laodelphax striatellus
small brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitobion avenae
English grain aphid - (species) D
Intraspecific
Candidate Gene
Chen Maohua; Han Zhaojun; Qiao Xianfeng ; et al. (2007
)
Resistance mechanisms and associated mutations in acetylcholinesterase genes in Sitobion avenae (Fab[...]
1 Additional References
GP00002595
Ace
P07140
Physiology
L336S
Sitobion avenae
English grain aphid - (species)
Sitobion avenae
English grain aphid - (species) D
Acetylcholinesterase (Ace-1)
Sitobion avenae
English grain aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Zhang LJ; Jing YP; Li XH ; et al. (2015)
Temperature-sensitive fitness cost of insecticide resistance in Chinese populations of the diamondba[...]
1 Additional References
GP00002598
Ace
P07140
Physiology
A441G
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
Acetylcholinesterase (Ace-1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000040
Ace
P07140
Physiology
Gly365Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000041
Ace
P07140
Physiology
Gly262Val
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000043
Ace
P07140
Physiology
Gly262Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
4 Mutations:
Coding
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
2 Additional References
GP00002011
Ace
P07140
Physiology
4 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
GP00002012
Ace
P07140
Physiology
Ile199Thr (position 129 in the corresponding mature Torpedo AChE). Tested in vitro in Xenopus oocytes
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002016
Ace
P07140
Physiology
Gly368Ala (position 328 in the corresponding mature Torpedo AChE). Tested in vitro in Xenopus oocytes - GGC>GCC
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Anthony NM; Brown JK; Markham PG ; et al. (1995
)
Molecular analysis of cyclodiene resistance-associated mutations among populations of the sweetpotat[...]
1 Additional References
GP00002565
Ace
P07140
Physiology
Phe392Trp mutation located in the acyl pocket of the active site gorge and recently shown to confer OP insensitivity in Culex tritaeniorhynchus
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
Acetylcholinesterase (Ace-2)
Bemisia tabaci
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002568
Ace
P07140
Physiology
E73G
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Li Fei; Han Zhaojun (2004
)
Mutations in acetylcholinesterase associated with insecticide resistance in the cotton aphid, Aphis [...]
1 Additional References
GP00002569
Ace
P07140
Physiology
F78L
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
Acetylcholinesterase (Ace-2)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002570
Ace
P07140
Physiology
E81K
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Kozaki T; Shono T; Tomita T ; et al. (2001)
Fenitroxon insensitive acetylcholinesterases of the housefly, Musca domestica associated with point [...]
1 Additional References
GP00002575
Ace
P07140
Physiology
I129V
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Hejazi MJ; Hawkes NJ ; et al. (2002)
Resistance-associated point mutations of organophosphate insensitive acetylcholinesterase, in the ol[...]
1 Additional References
GP00002576
Ace
P07140
Physiology
I129V
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Temeyer KB; Li AY; Lohmeyer KH ; et al. (2008)
Acetylcholinesterase mutation in diazinon-resistant Haematobia irritans (L.) (Diptera: Muscidae).
1 Additional References
GP00002578
Ace
P07140
Physiology
G227A
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
Acetylcholinesterase (Ace-2)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
1 Additional References
GP00002579
Ace
P07140
Physiology
S238G
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace-2)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
1 Additional References
GP00002582
Ace
P07140
Physiology
F290Y
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cochliomyia hominivorax
primary screw-worm - (species) D
Intraspecific
Candidate Gene
da Silva NM; de Carvalho RA; de Azeredo-Espin AM (2011)
Acetylcholinesterase cDNA sequencing and identification of mutations associated with organophosphate[...]
GP00002583
Ace
P07140
Physiology
F466Y
Cochliomyia hominivorax
primary screw-worm - (species)
Cochliomyia hominivorax
primary screw-worm - (species) D
Acetylcholinesterase (Ace-2)
Cochliomyia hominivorax
primary screw-worm - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002585
Ace
P07140
Physiology
F368(290)L
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-2)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002586
Ace
P07140
Physiology
V435(356)A
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-2)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Ceratitis capitata
Mediterranean fruit fly - (species) D
Intraspecific
Candidate Gene
Magaña C; Hernández-Crespo P; Brun-Barale A ; et al. (2008)
Mechanisms of resistance to malathion in the medfly Ceratitis capitata.
1 Additional References
GP00002588
Ace
P07140
Physiology
Gly328Ala
Ceratitis capitata
Mediterranean fruit fly - (species)
Ceratitis capitata
Mediterranean fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Ceratitis capitata
Mediterranean fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Nabeshima T; Mori A; Kozaki T ; et al. (2004)
An amino acid substitution attributable to insecticide-insensitivity of acetylcholinesterase in a Ja[...]
1 Additional References
GP00002596
Ace
P07140
Physiology
F331W - F455W whose homologous position in Torped AChE (Phe331) is located in the vicinity of the catalytic His in the acyl pocket of the active site gorge
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
Acetylcholinesterase (Ace-2)
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitobion avenae
English grain aphid - (species) D
Intraspecific
Candidate Gene
Chen Maohua; Han Zhaojun; Qiao Xianfeng ; et al. (2007
)
Resistance mechanisms and associated mutations in acetylcholinesterase genes in Sitobion avenae (Fab[...]
1 Additional References
GP00002597
Ace
P07140
Physiology
W435R
Sitobion avenae
English grain aphid - (species)
Sitobion avenae
English grain aphid - (species) D
Acetylcholinesterase (Ace-2)
Sitobion avenae
English grain aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Hejazi MJ; Hawkes NJ ; et al. (2002)
Resistance-associated point mutations of organophosphate insensitive acetylcholinesterase, in the ol[...]
GP00000037
Ace
P07140
Physiology
2 mutations
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
Deletion
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Kakani EG; Ioannides IM; Margaritopoulos JT ; et al. (2008)
A small deletion in the olive fly acetylcholinesterase gene associated with high levels of organopho[...]
1 Additional References
GP00000038
Ace
P07140
Physiology
9bp deletion of three glutamine residues at positions 642_644
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00000039
Ace
P07140
Physiology
Ser->Gly at position 238 of the Torpedo AChE
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000042
Ace
P07140
Physiology
Val180Leu
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000044
Ace
P07140
Physiology
Phe327Tyr
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera dorsalis
oriental fruit fly - (species) D
Intraspecific
Candidate Gene
Hsu JC; Haymer DS; Wu WJ ; et al. (2006)
Mutations in the acetylcholinesterase gene of Bactrocera dorsalis associated with resistance to orga[...]
GP00000045
Ace
P07140
Physiology
2 mutations
Bactrocera dorsalis
oriental fruit fly - (species)
Bactrocera dorsalis
oriental fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera dorsalis
oriental fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00002014
Ace
P07140
Physiology
Ser>Gly (238 is the corresponding position in Torpedo)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
ACS11
Plant architecture (petiole-to-leaf-length ratio)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Kooke R; Kruijer W; Bours R ; et al. (2016)
Genome-Wide Association Mapping and Genomic Prediction Elucidate the Genetic Architecture of Morphol[...]
GP00001235
ACS11
Q9S9U6
Morphology
several candidate amino acid changes
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ACS11
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
adenosine deaminase (AgADA)
Pathogen resistance (parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001463
ADA
P00813
Physiology
c.C427T p.R143C
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
adenosine deaminase (AgADA)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
AEP2
Hybrid Incompatibility (F2 sterility)
Coding,
SNP
Saccharomyces bayanus
(species)
Domesticated
Linkage Mapping
Lee HY; Chou JY; Cheong L ; et al. (2008)
Incompatibility of nuclear and mitochondrial genomes causes hybrid sterility between two yeast speci[...]
GP00000051
AEP2
P22136
Physiology
The region between aa 348 and aa 496 plays a critical role. When this region was further dissected in the constructs H-AEP2-bcb and H-AEP2-m3; both failed to restore respiration in the Chromosome 13 line. This result suggests that multiple critical mutations have occurred during the functional diversification of Sc-AEP2 and Sb-AEP2.
Exact causing mutation(s) not determined
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces bayanus
(species)
AEP2
Saccharomyces bayanus
(species)
Published - Accepted by Curator
AFGP multigene - antifreeze glycoproteins
Anti-freezing
Coding,
Unknown
Dissostichus mawsoni
Antarctic toothfish - (species)
Intergeneric or Higher
Candidate Gene
Chen L; DeVries AL; Cheng CH (1997)
Evolution of antifreeze glycoprotein gene from a trypsinogen gene in Antarctic notothenioid fish.
2 Additional References
GP00000052
afgp8
P24856
Physiology
multiple modifications of a pancreatic; secreted trypsinogen; notably via multiplications of small tri-peptidic repeats
Teleostei
teleost fishes - (infraclass)
Dissostichus mawsoni
Antarctic toothfish - (species)
AFGP multigene - antifreeze glycoproteins
Dissostichus mawsoni
Antarctic toothfish - (species)
Published - Accepted by Curator
AGAMOUS-Like6
Plant architecture
Inflorescence architecture
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Huang X; Effgen S; Meyer RC ; et al. (2012)
Epistatic natural allelic variation reveals a function of AGAMOUS-LIKE6 in axillary bud formation in[...]
GP00000053
AGL6
P29386
Morphology
Morphology
Pro201Leu
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AGAMOUS-Like6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
Insertion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Cavanagh JA; Tammen I; Windsor PA ; et al. (2007)
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.
GP00002140
ACAN
P16112
Morphology
2266_2267insGGCA mutation introduces a frameshift and a premature termination codon into exon 11; the frameshift occurs at amino acid position 756 ; the termination codon occurs at position 914 compared to the normal aggrecan product of 2327 amino acids N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
aggrecan
Bos taurus
cattle - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002142
ACAN
P16112
Morphology
g.95257458_95257500del ; p.Phe2017-Asp2023del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Metzger J; Gast AC; Schrimpf R ; et al. (2017)
Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland p[...]
1 Additional References
GP00002143
ACAN
P16112
Morphology
g.95282140C>G ; p.Ala505Pro
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002144
ACAN
P16112
Morphology
g.95284530C>T ; p.Val424Met
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002145
ACAN
P16112
Morphology
g.95291270del ; p.Lys82fs N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Coding,
SNP
N
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Candidate Gene
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00000056
Asip
Q03288
Morphology
Premature stop codon at residue 65 N
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
Agouti
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Intraspecific
Linkage Mapping
Rieder S; Taourit S; Mariat D ; et al. (2001)
Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their associati[...]
1 Additional References
GP00000062
Asip
Q03288
Morphology
11bp deletion in exon 2: g.2174_2184del11 c.191_201del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Agouti
Equus caballus
horse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Eizirik E; Yuhki N; Johnson WE ; et al. (2003)
Molecular genetics and evolution of melanism in the cat family.
GP00000063
Asip
Q03288
Morphology
Deletion of nt 123-124 N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Agouti
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Panthera pardus
leopard - (species) D
Intraspecific
Candidate Gene
Schneider A; David VA; Johnson WE ; et al. (2012)
How the leopard hides its spots: ASIP mutations and melanism in wild cats.
GP00000065
Asip
Q03288
Morphology
nonsense mutation located in exon 4 (C333A) predicted to introduce a stop codon at amino acid position 111 N
Panthera pardus
leopard - (species)
Panthera pardus
leopard - (species) D
Agouti
Panthera pardus
leopard - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
Catopuma temminckii
Asiatic golden cat - (species)
Intraspecific
Candidate Gene
Schneider A; David VA; Johnson WE ; et al. (2012)
How the leopard hides its spots: ASIP mutations and melanism in wild cats.
GP00000066
Asip
Q03288
Morphology
C128W (384C>G)
Catopuma temminckii
Asiatic golden cat - (species)
Catopuma temminckii
Asiatic golden cat - (species)
Agouti
Catopuma temminckii
Asiatic golden cat - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
Deletion
N
Vulpes vulpes
red fox - (species) D
Domesticated
Candidate Gene
Våge DI; Lu D; Klungland H ; et al. (1997)
A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes.
GP00000067
Asip
Q03288
Morphology
166 bp deletion in exon 1 N
Vulpes vulpes
red fox - (species)
Vulpes vulpes
red fox - (species) D
Agouti
Vulpes vulpes
red fox - (species)
Published - Accepted by Curator
Agouti
Coloration (feathers)
Coding,
Deletion
N
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Hiragaki T; Inoue-Murayama M; Miwa M ; et al. (2008)
Recessive black is allelic to the yellow plumage locus in Japanese quail and associated with a frame[...]
GP00000068
Asip
Q03288
Morphology
8bp frameshift deletion N
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Agouti
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Leopardus colocolo
Colocolo - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001731
Asip
Q03288
Morphology
Arg to Cys substitution in the C-terminal region of ASIP (p.R120C) lies in the critical RFF loop (e.g. a triplet motif made of one arginine and two phenylalanine residues) required for binding to the MC1R N
Leopardus colocolo
Colocolo - (species)
Leopardus colocolo
Colocolo - (species) D
Agouti
Leopardus colocolo
Colocolo - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Leopardus guigna
Kodkod - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001732
Asip
Q03288
Morphology
Cys to Tyr substitution in ASIP (p.C126Y) which affects the key disulfide bond that stabilizes the RFF loop N
Leopardus guigna
Kodkod - (species)
Leopardus guigna
Kodkod - (species) D
Agouti
Leopardus guigna
Kodkod - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
5 Mutations:
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Association Mapping
Linnen CR; Poh YP; Peterson BK ; et al. (2013)
Adaptive evolution of multiple traits through multiple mutations at a single gene.
1 Additional References
GP00001974
Asip
Q03288
Morphology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Agouti
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Association Mapping
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00001976
Asip
Q03288
Morphology
recessive mutation at nucleotide position 193 (in exon 3) resulting in a change from glutamine to a stop codon at amino acid position 65 (Q65term) N
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Agouti
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
Sciurus niger
fox squirrel - (species) D
Intraspecific
Candidate Gene
McRobie HR; Moncrief ND; Mundy NI (2019)
Multiple origins of melanism in two species of North American tree squirrel (Sciurus).
GP00002335
Morphology
Gly121Cys
Sciurus niger
fox squirrel - (species)
Sciurus niger
fox squirrel - (species) D
Agouti
Sciurus niger
fox squirrel - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies)
Domesticated
Candidate Gene
Berryere TG; Kerns JA; Barsh GS ; et al. (2005)
Association of an Agouti allele with fawn or sable coat color in domestic dogs.
GP00000060
Asip
Q03288
Morphology
c.244G>T + 248G>A ; p.A82S + p.R83H
A82S and R83H in Linkage Disequilibrium
a G-to-T transversion and a G-to-A transition in exon 4 at positions corresponding to residues 244 and 248 of the cDNA sequence
It is unknown if one or both substitutions alter Agouti protein function
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies)
Agouti (ASIP)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Kerns JA; Newton J; Berryere TG ; et al. (2004)
Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs.
1 Additional References
GP00000061
Asip
Q03288
Morphology
R96C ; g.23393552C>T c.286C>T p.R96C
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
Agouti (ASIP)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Monarcha castaneiventris
Makira monarch - (species) D
Intraspecific
Association Mapping
Uy JA; Cooper EA; Cutie S ; et al. (2016)
Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]
GP00001334
Asip
Q03288
Morphology
Ile55Thr
Monarcha castaneiventris
Makira monarch - (species)
Monarcha castaneiventris
Makira monarch - (species) D
Agouti (ASIP)
Monarcha castaneiventris
Makira monarch - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Abitbol M; Legrand R; Tiret L (2015)
A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light poin[...]
GP00001335
Asip
Q03288
Morphology
c.349T>C p.Cys117Arg
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
Agouti (ASIP)
Equus asinus
ass - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Lifespan
2 Mutations:
Coding
N
Ovis aries
sheep - (species) D
Intraspecific
Linkage Mapping
Gratten J; Pilkington JG; Brown EA ; et al. (2010)
The genetic basis of recessive self-colour pattern in a wild sheep population.
1 Additional References
GP00001356
Asip
Q03288
Morphology
Physiology
2 mutations
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
Insertion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Forestier L; Allain D ; et al. (2010)
Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic an[...]
1 Additional References
GP00001968
Asip
Q03288
Morphology
an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Agouti (ASIP)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
Deletion
N
D
Intraspecific
Candidate Gene
Miller SM; Guthrie AJ; Harper CK (2016)
Single base-pair deletion in ASIP exon 3 associated with recessive black phenotype in impala (Aepyce[...]
GP00001977
Asip
Q03288
Morphology
recessive c.174delA was found in all black phenotype sequences ; premature stop codon (239–241 bp) N
D
Agouti (ASIP)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
Deletion
N
Camelus dromedarius
Arabian camel - (species) D
Domesticated
Candidate Gene
Almathen F; Elbir H; Bahbahani H ; et al. (2018)
Polymorphisms in MC1R and ASIP Genes are Associated with Coat Color Variation in the Arabian Camel.
1 Additional References
GP00001978
Asip
Q03288
Morphology
1-bp deletion at position 23 resulting in frameshift N
Camelus dromedarius
Arabian camel - (species)
Camelus dromedarius
Arabian camel - (species) D
Agouti (ASIP)
Camelus dromedarius
Arabian camel - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Vicugna pacos
alpaca - (species) D
Domesticated
Candidate Gene
Chandramohan B; Renieri C; La Manna V ; et al. (2013)
The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomela[...]
GP00002336
Asip
Q03288
Morphology
p.R98C likely affecting conformation in a cysteine-rich domain
Vicugna pacos
alpaca - (species)
Vicugna pacos
alpaca - (species) D
Agouti (ASIP)
Vicugna pacos
alpaca - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat; dorso-ventral)
Coding,
Insertion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Letko A; Ammann B; Jagannathan V ; et al. (2020)
A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform i[...]
GP00002373
Asip
Q03288
Morphology
"The structural variant represented an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del; Fig. 2). In rabbit, there are currently two ASIP transcript isoforms annotated (NCBI annotation release 102). The deletion removes the entire first 5′-untranslated exon of one of these transcripts (NM_001122939.1). (...) he deletion removed the transcription start site and the first untranslated exon of the presumably hair cycle-specific transcript isoform, suggesting that this is the most likely causative variant for the black and tan phenotype." N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Agouti (ASIP)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
AHR
Xenobiotic resistance (polycyclic aromatic hydrocarbons; TCDD)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Linkage Mapping
Poland A; Palen D; Glover E (1994)
Analysis of the four alleles of the murine aryl hydrocarbon receptor.
GP00001810
Ahr
P30561
Physiology
alanine at position 375 mutated into valine; decreases the affinity 4-fold
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
AHR
Mus musculus
house mouse - (species)
Published - Accepted by Curator
AHR
Xenobiotic resistance (dioxins; polycyclic aromatic hydrocarbons; TCDD)
2 Mutations:
Coding
SNP
Sterna hirundo hirundo
(subspecies) D
Intergeneric or Higher
Candidate Gene
Karchner SI; Franks DG; Kennedy SW ; et al. (2006)
The molecular basis for differential dioxin sensitivity in birds: role of the aryl hydrocarbon recep[...]
1 Additional References
GP00001811
Ahr
P30561
Physiology
2 mutations
Gallus gallus
chicken - (species)
Sterna hirundo hirundo
(subspecies) D
AHR
Sterna hirundo hirundo
(subspecies)
Published - Accepted by Curator
AHR
Xenobiotic resistance (TCDD)
Coding,
SNP
N
Rattus norvegicus
Norway rat - (species) D
Intraspecific
Linkage Mapping
Tuomisto JT; Viluksela M; Pohjanvirta R ; et al. (1999)
The AH receptor and a novel gene determine acute toxic responses to TCDD: segregation of the resista[...]
2 Additional References
GP00001813
Ahr
P30561
Physiology
point mutation in the exon/intron 10 boundary in AHR genomic structure that leads to use of 3 alternative cryptic splice sites; potentially creating 3 alternative transcripts and 2 protein products. At the protein level the mutation leads to a total loss of either 43 or 38 amino acids (with altered sequence for the last seven amino acids in the latter case) toward the carboxyl-terminal end in the trans-activation domain of the AhR. H/W rats also harbor a point mutation in exon 10 that will cause a Val-to-Ala substitution in codon 497, but this occurs in a variable region of the AhR N
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species) D
AHR
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution; polychlorinated biphenyls; PCBs)
Coding,
Deletion
N
Microgadus tomcod
Atlantic tomcod - (species) D
Intraspecific
Candidate Gene
Wirgin I; Roy NK; Loftus M ; et al. (2011)
Mechanistic basis of resistance to PCBs in Atlantic tomcod from the Hudson River.
GP00001809
Ahr
P30561
Physiology
6-bp deletion - (nts 1314 to 1319 in exon 10; TTCCTC) that resulted in a two-amino acid (Phe-Leu) deletion located 43 amino acids downstream of the amino terminal of the AHR2 ligand binding domain N
Microgadus tomcod
Atlantic tomcod - (species)
Microgadus tomcod
Atlantic tomcod - (species) D
AHR2
Microgadus tomcod
Atlantic tomcod - (species)
Published - Accepted by Curator
AIM22
F2 lethality
Coding,
SNP
Saccharomyces bayanus
(species)
Interspecific
Linkage Mapping
Chou JY; Hung YS; Lin KH ; et al. (2010)
Multiple molecular mechanisms cause reproductive isolation between three yeast species.
GP00000073
AIM22
P47051
Physiology
Several candidate non-synonymous changes - exact causing mutation(s) unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces bayanus
(species)
AIM22
Saccharomyces bayanus
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
6 Mutations:
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Choudhary M; Laurie CC (1991)
Use of in vitro mutagenesis to analyze the molecular basis of the difference in Adh expression assoc[...]
4 Additional References
GP00001962
Adh
P00334
Physiology
6 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
4 Mutations:
Drosophila yakuba
(species)
Interspecific
Candidate Gene
Loehlin DW; Ames JR; Vaccaro K ; et al. (2019)
A major role for noncoding regulatory mutations in the evolution of enzyme activity.
GP00001963
Adh
P00334
Physiology
4 mutations
Drosophila santomea
(species)
Drosophila yakuba
(species)
alcohol dehydrogenase (Adh)
Drosophila yakuba
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
4 Mutations:
Drosophila erecta
(species)
Interspecific
Candidate Gene
Loehlin DW; Ames JR; Vaccaro K ; et al. (2019)
A major role for noncoding regulatory mutations in the evolution of enzyme activity.
GP00001964
Adh
P00334
Physiology
4 mutations
Drosophila orena
(species)
Drosophila erecta
(species)
alcohol dehydrogenase (Adh)
Drosophila erecta
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Vigue C; Sofer W (1974)
Adh-n5: a temperature-sensitive mutant at the Adh locus in Drosophila.
GP00001988
Adh
P00334
Physiology
Activity of the purified enzyme is temperature-sensitive; as opposed to the other allele which is not. Exact coding mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Insertion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Freeth AL; Gibson JB; Wilks AV (1990)
Aberrant splicing of a naturally occurring alcohol dehydrogenase null activity allele in Drosophila [...]
1 Additional References
GP00001990
Adh
P00334
Physiology
eight extra nucleotides (in two groups of four) in the second intron commencing six bases 3' from the 5' splice site. A stop codon was also found in exon 2. S1 nuclease protection experiments have shown that the insertions in intron 2 disrupt the correct splicing of intron 2. The null allele produces a transcript approximately 100 bases longer than the normal mature adult transcript, and the amount of the null allele transcript is only about 10% of the normal level. N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Gibson JB; Wilks AV; Agrotis A (1992)
Molecular relationships between alcohol dehydrogenase null-activity alleles from natural populations[...]
GP00001991
Adh
P00334
Physiology
438-bp deletion which removes most of exon 2. Lys to Thr substitution: ACG at the sites 1489--1491 N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (ADH1B)
Xenobiotic resistance (alcohol)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Li H; Mukherjee N; Soundararajan U ; et al. (2007)
Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and [...]
1 Additional References
GP00000077
ADH1B
P00325
Physiology
Arg47His; the derived allele results in 100-fold enzymatic rate increase and shows signs of positive selection in correlation with history of rice domestication
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
alcohol dehydrogenase (ADH1B)
Homo sapiens
human - (species)
Published - Accepted by Curator
Aldehyde dehydrogenase (Aldh)
Xenobiotic resistance (alcohol)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Fry JD; Donlon K; Saweikis M (2008)
A worldwide polymorphism in aldehyde dehydrogenase in Drosophila melanogaster: evidence for selectio[...]
GP00002007
Aldh
Q9VLC5
Physiology
L479F C9391311T
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Aldehyde dehydrogenase (Aldh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Alk / Starch Synthase II
Grain cooking texture
4 Mutations:
Coding
SNP
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Umemoto T; Yano M; Satoh H ; et al. (2002)
Mapping of a gene responsible for the difference in amylopectin structure between japonica-type and [...]
2 Additional References
GP00000078
SSII-3
Q0DDE3
Physiology
4 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Alk / Starch Synthase II
Oryza sativa
rice - (species)
Published - Accepted by Curator
Allantoin permease DAL4
Nitrogen use (growth rate on allantoin)
Coding,
Indel
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Ibstedt S; Stenberg S; Bagés S ; et al. (2015)
Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.
GP00001503
DAL4
Q04895
Physiology
c.1201delA a single nucleotide frameshifting insertion (deletion?) N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Allantoin permease DAL4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Allantoinase DAL1
Nitrogen use (growth rate on allantoin)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Ibstedt S; Stenberg S; Bagés S ; et al. (2015)
Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.
GP00001502
DAL1
P32375
Physiology
c.415C>T p.P139S predicted to be strongly detrimental
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Allantoinase DAL1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001893
ALS
P17597
Physiology
W574L
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001894
ALS
P17597
Physiology
S653N
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001895
ALS
P17597
Physiology
S653T
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
ameloblastin (AMBN)
Tooth absence (no enamel production)
Coding,
Unknown
N
Mysticeti
baleen whales - (suborder) D
Intergeneric or Higher
Candidate Gene
Deméré TA; McGowen MR; Berta A ; et al. (2008)
Morphological and molecular evidence for a stepwise evolutionary transition from teeth to baleen in [...]
1 Additional References
GP00001938
AMBN
Q9NP70
Physiology
multiple frameshift mutations N
Cetacea
whales - (order)
Mysticeti
baleen whales - (suborder) D
ameloblastin (AMBN)
Mysticeti
baleen whales - (suborder)
Published - Accepted by Curator
amelogenin (AMEL)
Tooth absence (no enamel production)
3 Mutations:
Coding
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001933
Amelx
P63277
Physiology
3 mutations
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
amelogenin (AMEL)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
amelogenin (AMEL)
Tooth absence (no enamel production)
Coding,
Unknown
N
Mysticeti
baleen whales - (suborder) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Cheng J ; et al. (2011)
Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]
GP00001937
Amelx
P63277
Physiology
J. Gatesy 2010 unpublished data cited in the main reference N
Cetacea
whales - (order)
Mysticeti
baleen whales - (suborder) D
amelogenin (AMEL)
Mysticeti
baleen whales - (suborder)
Published - Accepted by Curator
Amhr2
Sex determination (female vs male)
Coding,
SNP
Takifugu rubripes
torafugu - (species)
Takifugu poecilonotus
finepatterned puffer - (species)
Takifugu pardalis
panther puffer - (species)
Intraspecific
Linkage Mapping
Kamiya T; Kai W; Tasumi S ; et al. (2012)
A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, [...]
GP00002147
AMHR2
Q16671
Physiology
His/Asp384 heterozygous males have reduced Amrh2 activity due to decreased activity of the kinase signaling domain
Takifugu rubripes
torafugu - (species)
Takifugu poecilonotus
finepatterned puffer - (species)
Takifugu pardalis
panther puffer - (species)
Takifugu rubripes
torafugu - (species)
Takifugu poecilonotus
finepatterned puffer - (species)
Takifugu pardalis
panther puffer - (species)
Amhr2
Takifugu rubripes
torafugu - (species)
Takifugu poecilonotus
finepatterned puffer - (species)
Takifugu pardalis
panther puffer - (species)
Published - Accepted by Curator
Aminopeptidase N (APN)
Xenobiotic resistance (insecticide; Bt Cry2Ac toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Experimental Evolution
Candidate Gene
Yang Y; Zhu YC; Ottea J ; et al. (2010)
Molecular characterization and RNA interference of three midgut aminopeptidase N isozymes from Bacil[...]
GP00002463
apn
Q9VFX3
Physiology
deletion removing 22 amino acids. The mutant form failed to bind Cry1Ac unlike the full-length susceptible form. N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Aminopeptidase N (APN)
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
AMN1
Cell separation
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Yvert G; Brem RB; Whittle J ; et al. (2003)
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors.
GP00000082
AMN1
P38285
Physiology
D368V
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
AMN1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Deletion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000089
AN2
A4GRU8
Morphology
1bp deletion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000090
AN2
A4GRU8
Morphology
4bp insertion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000091
AN2
A4GRU8
Morphology
W196* N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Deletion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000092
AN2
A4GRU8
Morphology
1bp deletion; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Interspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000093
AN2
A4GRU8
Morphology
1 aa substitution; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Interspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000094
AN2
A4GRU8
Morphology
1 aa substitution; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
AOP2
Glucosinolate content
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kliebenstein DJ; Lambrix VM; Reichelt M ; et al. (2001)
Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dio[...]
2 Additional References
GP00000095
AOP2
Q945B5
Physiology
5bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AOP2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AOP3
Glucosinolate content
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kliebenstein DJ; Lambrix VM; Reichelt M ; et al. (2001)
Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dio[...]
2 Additional References
GP00000096
AOP3
Q9ZTA1
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AOP3
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
apicoplast ribosomal protein S10
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001531
PF3D7_1460900.1
Q8IKM3
Physiology
p.Val127Met
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
apicoplast ribosomal protein S10
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
APOE (apolipoprotein E)
Aging
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Joshi PK; Fischer K; Schraut KE ; et al. (2016)
Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.
GP00000099
APOE
P02649
Physiology
Cys112Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species)
APOE (apolipoprotein E)
Homo sapiens
human - (species)
Published - Accepted by Curator
APSR
Sulfate content (shoot)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Loudet O; Saliba-Colombani V; Camilleri C ; et al. (2007)
Natural variation for sulfate content in Arabidopsis thaliana is highly controlled by APR2.
GP00000100
APR2
P92981
Physiology
A399E N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
APSR
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Aquaporin
Water transport (selective accumulation of water or glycerol)
Coding,
SNP
Polypedilum vanderplanki
sleeping chironomid - (species)
Interspecific
Candidate Gene
Finn RN; Chauvigné F; Stavang JA ; et al. (2015)
Insect glycerol transporters evolved by functional co-option and gene replacement.
GP00001421
AQP1
P29972
Physiology
p.His174Ala
Blattella germanica
German cockroach - (species)
Polypedilum vanderplanki
sleeping chironomid - (species)
Aquaporin
Polypedilum vanderplanki
sleeping chironomid - (species)
Published - Accepted by Curator
Aquaporin (AQY1)
Growth rate (environment-dependent)
2 Mutations:
Coding
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001872
AQP1
P29972
Physiology
2 mutations
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY1)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001873
AQP1
P29972
Physiology
aquaporin yeast 1 gene on chromosome 12 - A881 deletion renders AQY1 inactive - size of the deletion not indicated in the paper - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY1)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001874
AQP1
P29972
Physiology
aquaporin yeast 1 gene on chromosome 12 - 955-bp deletion that removes the first 106 bp of AQY1 and its upstream region - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001875
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - 11-bp deletion that creates a stop codon in the middle of the AQY2 gene - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001876
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - deletion of nucleotide G at position 25 (G25) which creates a frameshift the AQY2 gene - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
GP00001877
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - G528 deletion which creates a frameshift the AQY2 gene - tested in assays - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
arcp-1
CO2 avoidance
Aggregation behavior
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Beets I; Zhang G; Fenk LA ; et al. (2019)
Natural Variation in a Dendritic Scaffold Protein Remodels Experience-Dependent Plasticity by Alteri[...]
GP00002067
CELE_F34D10.6
C6KRH4
Behavior
Behavior
8 bp deletion (mfP22) in the open reading frame N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
arcp-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
arginyl-transfer RNA synthetase (RARS)
Heat tolerance
Coding,
SNP
Anolis cristatellus
(species) D
Intraspecific
Association Mapping
Campbell-Staton SC; Winchell KM; Rochette NC ; et al. (2020)
Parallel selection on thermal physiology facilitates repeated adaptation of city lizards to urban he[...]
GP00002620
RARS2
Q5T160
Physiology
C>G threonine>serine at amino acid residue 558 of the RARS gene = adjacent to a predicted protein-binding region22 (AA556–557). There are four non-synonymous polymorphic sites within RARS. Only one shows a significant difference in allele frequency between forest and urban habitats across all populations.
Anolis cristatellus
(species)
Anolis cristatellus
(species) D
arginyl-transfer RNA synthetase (RARS)
Anolis cristatellus
(species)
Published - Accepted by Curator
ARHGAP11B
Neocortex development (basal progenitor amplification)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Florio M; Namba T; Pääbo S ; et al. (2016)
A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification.
GP00001442
ARHGAP11B
Q3KRB8
Morphology
c.661C>G new splice site mutation removing 55nt from exon 5 truncating a GAP domain N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ARHGAP11B
Homo sapiens
human - (species)
Published - Accepted by Curator
ARHGAP15
Pathogen resistance (Trypanosoma)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Noyes H; Brass A; Obara I ; et al. (2011)
Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypa[...]
GP00000103
Arhgap15
Q811M1
Physiology
H282P
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
ARHGAP15
Bos taurus
cattle - (species)
Published - Accepted by Curator
ASP1
Acetic acid production
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Marullo P; Aigle M; Bely M ; et al. (2007)
Single QTL mapping and nucleotide-level resolution of a physiologic trait in wine Saccharomyces cere[...]
GP00000104
APS1
P35181
Physiology
Asp142His
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
ASP1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000107
GA20OX1
Q39110
Morphology
-2bp at +297 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000108
GA20OX1
Q39110
Morphology
-1bp "G" at +324 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000109
GA20OX1
Q39110
Morphology
-5bp "G" at +545 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000110
GA20OX1
Q39110
Morphology
-10bp "G" at +784 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000111
GA20OX1
Q39110
Morphology
-29bp at +426 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000112
GA20OX1
Q39110
Morphology
-444bp at +985 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000113
GA20OX1
Q39110
Morphology
+1bp "G" at +256 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000114
GA20OX1
Q39110
Morphology
+7bp "G" at +961 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000115
GA20OX1
Q39110
Morphology
+1bp at +1270 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000116
GA20OX1
Q39110
Morphology
Transposon insertion at +1355 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000117
GA20OX1
Q39110
Morphology
W46* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
1 Additional References
GP00000118
GA20OX1
Q39110
Morphology
W271* -G816A according to Fig.3 of Xu et al. 1995 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000119
GA20OX1
Q39110
Morphology
E312* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000120
GA20OX1
Q39110
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000121
GA20OX1
Q39110
Morphology
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000122
GA20OX1
Q39110
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000123
GA20OX1
Q39110
Morphology
Splice Site mutation G742A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Luo Y; Dong X; Yu T ; et al. (2015)
A Single Nucleotide Deletion in Gibberellin20-oxidase1 Causes Alpine Dwarfism in Arabidopsis.
GP00001243
GA20OX1
Q39110
Morphology
-1bp at position 184 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00001685
GA20OX1
Q39110
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtMYC1
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Symonds VV; Hatlestad G; Lloyd AM (2011)
Natural allelic variation defines a role for ATMYC1: trichome cell fate determination.
1 Additional References
GP00001268
BHLH12
Q8W2F1
Morphology
P189A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtMYC1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
3 Mutations:
Coding
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001909
ATP4B
P51164
Physiology
3 mutations
Monodelphis domestica
gray short-tailed opossum - (species)
Homo sapiens
human - (species)
Ornithorhynchus anatinus
platypus - (species) D
ATP4B
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
ATR13
Pathogenicity
Coding,
SNP
Hyaloperonospora parasitica
(species)
Intraspecific
Linkage Mapping
Allen RL; Bittner-Eddy PD; Grenville-Briggs LJ ; et al. (2004)
Host-parasite coevolutionary conflict between Arabidopsis and downy mildew.
1 Additional References
GP00000128
Atr13
Q5G7K8
Physiology
Multiple coding changes - the avirulence allele ATR13‐Maks9 and the virulence allele ATR13‐Emoy2 only encode differences in the C‐terminal domain (in 11 amino acids) - domain swaps show that one or more of the amino acids in Region A are required for recognition and one or more in Region B are required to elicit a full recognition phenotype. - exact causing mutations unknown
Hyaloperonospora parasitica
(species)
Hyaloperonospora parasitica
(species)
ATR13
Hyaloperonospora parasitica
(species)
Published - Accepted by Curator
B4GALT7
Body size (dwarfism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Leegwater PA; Vos-Loohuis M; Ducro BJ ; et al. (2016)
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
GP00002151
B4GALT7
Q9UBV7
Morphology
g.3,772,591C>T ; c.50G>A ; p.R17K ; last nucleotide of exon 1 and leads to a splicing deficiency of B4GALT7 transcripts ; All 29 dwarfs of which DNA was available were homozygous for the mutation . . . the 8 obligate carriers were heterozygous
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
B4GALT7
Equus caballus
horse - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Juwattanasomran R; Somta P; Chankaew S ; et al. (2011)
A SNP in GmBADH2 gene associates with fragrance in vegetable soybean variety "Kaori" and SNAP marker[...]
GP00000133
BADH2
Q84LK3
Physiology
1 amino-acid substitution in conserved enzymatic domain
Glycine max
soybean - (species)
Glycine max
soybean - (species)
BADH2
Glycine max
soybean - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Bradbury LM; Fitzgerald TL; Henry RJ ; et al. (2005)
The gene for fragrance in rice.
1 Additional References
GP00000134
BADH2
Q84LK3
Physiology
8bp deletion resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Shi Weiwei; Yang Yi; Chen Saihua ; et al. (2008
)
Discovery of a new fragrance allele and the development of functional markers for the breeding of fr[...]
1 Additional References
GP00001772
BADH2
Q84LK3
Physiology
7-bp deletion in exon 2 resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001773
BADH2
Q84LK3
Physiology
2-bp deletion in exon 1 resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001774
BADH2
Q84LK3
Physiology
insertion of 1 bp (T) in exon 10 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001775
BADH2
Q84LK3
Physiology
G>T substitution in exon 10 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001776
BADH2
Q84LK3
Physiology
G>T substitution in exon 14 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001777
BADH2
Q84LK3
Physiology
C>T substitution in exon 13 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001778
BADH2
Q84LK3
Physiology
1-bp deletion in exon 10 - causes a frameshift N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001779
BADH2
Q84LK3
Physiology
1-bp insertion (G) in exon 14 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001780
BADH2
Q84LK3
Physiology
3-bp insertion (TAT) in exon 13 - causes a frameshift N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BBS9 (+ BMPER)
Growth rate
Coding,
Deletion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Association Mapping
Derks MFL; Lopes MS; Bosse M ; et al. (2018)
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes[...]
GP00002341
Bbs9
Q811G0
Physiology
212kb deletion resulting in truncated BBS9 protein and recessive loss of neighbor gene expression BMPER N
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
BBS9 (+ BMPER)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
BCMA
Glucosinolate content
Herbivore resistance
3 Mutations:
Boechera stricta
(species)
Intraspecific
Linkage Mapping
Prasad KV; Song BH; Olson-Manning C ; et al. (2012)
A gain-of-function polymorphism controlling complex traits and fitness in nature.
GP00000136
J9QWI9
Physiology
Physiology
3 mutations
Boechera stricta
(species)
Boechera stricta
(species)
BCMA
Boechera stricta
(species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow serum)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Berry SD; Davis SR; Beattie EM ; et al. (2009)
Mutation in bovine beta-carotene oxygenase 2 affects milk color.
1 Additional References
GP00000138
BCO2
Q9BYV7
Physiology
c.306G>A ; p.W102* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
BCO2 = beta-carotene oxygenase 2
Bos taurus
cattle - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow fat)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Våge DI; Boman IA (2010)
A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumula[...]
1 Additional References
GP00000140
BCO2
Q9BYV7
Physiology
g.21947481C>T ; c.196C>T ; p.Q66* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BCO2 = beta-carotene oxygenase 2
Ovis aries
sheep - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (bill, legs)
Coding,
SNP
N
Serinus canaria
common canary - (species) D
Domesticated
Association Mapping
Gazda MA; Toomey MB; Araújo PM ; et al. (2020)
GENETIC BASIS OF DE NOVO APPEARANCE OF CAROTENOID ORNAMENTATION IN BARE-PARTS OF CANARIES.
GP00002039
BCO2
Q9BYV7
Morphology
point mutation at nucleotide position 837,806 that is predicted to be a nonsynonymous mutation in the exon 9 of the BCO2 gene. This variant results in the substitution of a histidine for an arginine at residue 413 of the protein (R413H) . In silico analysis suggests that the R413H could cause structural distortion of the protein and lead to a possible loss of activity. In vitro assays with the urucum BCO2 variant show that the enzyme activity is lost. N
Serinus canaria
common canary - (species)
Serinus canaria
common canary - (species) D
BCO2 = beta-carotene oxygenase 2
Serinus canaria
common canary - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow fat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Strychalski J; Brym P; Czarnik U ; et al. (2015)
A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits.
GP00002152
BCO2
Q9BYV7
Physiology
AAT-deletion mutation at Asp codon 248 of the BCO2 gene located at the beginning of exon 6 which results in the removal of an Asp N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
BCO2 = beta-carotene oxygenase 2
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
beta-casein
Milk protein content (casein)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Gallinat JL; Qanbari S; Drögemüller C ; et al. (2013)
DNA-based identification of novel bovine casein gene variants.
GP00002025
CSN2
P02666
Physiology
g.87181619A>C c.245A>C p.H82P CAT>CCT
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
beta-casein
Bos taurus
cattle - (species)
Published - Accepted by Curator
beta-defensin 103 (CBD103)
Coloration (coat)
Coding,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Canis latrans
coyote - (species) D
Canis lupus
gray wolf - (species) D
Domesticated
Linkage Mapping
Candille SI; Kaelin CB; Cattanach BM ; et al. (2007)
A -defensin mutation causes black coat color in domestic dogs.
2 Additional References
GP00000141
CBD103
Q30KV0
Morphology; Physiology
3bp in-frame deletion in exon 2 = deletion of Gly23
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Canis latrans
coyote - (species) D
Canis lupus
gray wolf - (species) D
beta-defensin 103 (CBD103)
Canis lupus familiaris
dog - (subspecies)
Canis latrans
coyote - (species)
Canis lupus
gray wolf - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001263
BGLU6
Q682B4
Physiology
T-> A of a splice site at position 168 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001264
BGLU6
Q682B4
Physiology
1-bp deletion of a splice site at position 395 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001265
BGLU6
Q682B4
Physiology
GAG to stop codon TAG at position 913 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001266
BGLU6
Q682B4
Physiology
A deletion of one nucleotide in the seventh exon (BGLU6 CDS position 678) results in a premature stop codon in the accessions Bor-4, Se-0, Uod-1, and Zdr-1. premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001267
BGLU6
Q682B4
Physiology
GAG to stop codon TAG at position 1138 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Kwa MS; Veenstra JG; Roos MH (1994)
Benzimidazole resistance in Haemonchus contortus is correlated with a conserved mutation at amino ac[...]
1 Additional References
GP00001785
TUB2
P02557
Physiology
Phe200Tyr
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Trichostrongylus colubriformis
(species) D
Intraspecific
Candidate Gene
Kwa MS; Veenstra JG; Roos MH (1994)
Benzimidazole resistance in Haemonchus contortus is correlated with a conserved mutation at amino ac[...]
1 Additional References
GP00001786
TUB2
P02557
Physiology
Phe200Tyr
Trichostrongylus colubriformis
(species)
Trichostrongylus colubriformis
(species) D
beta-tubulin
Trichostrongylus colubriformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001788
TUB2
P02557
Physiology
Phe200Tyr
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001789
TUB2
P02557
Physiology
Phe200Tyr
D
beta-tubulin
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium italicum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001790
TUB2
P02557
Physiology
Phe200Tyr
Penicillium italicum
(species)
Penicillium italicum
(species) D
beta-tubulin
Penicillium italicum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium aurantiogriseum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001791
TUB2
P02557
Physiology
Phe200Tyr
Penicillium aurantiogriseum
(species)
Penicillium aurantiogriseum
(species) D
beta-tubulin
Penicillium aurantiogriseum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium aurantiogriseum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001792
TUB2
P02557
Physiology
Glu198Lys
Penicillium aurantiogriseum
(species)
Penicillium aurantiogriseum
(species) D
beta-tubulin
Penicillium aurantiogriseum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium viridicatum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001793
TUB2
P02557
Physiology
Glu198Lys
Penicillium viridicatum
(species)
Penicillium viridicatum
(species) D
beta-tubulin
Penicillium viridicatum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Clarireedia homoeocarpa
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001794
TUB2
P02557
Physiology
Glu1198Lys
Clarireedia homoeocarpa
(species)
Clarireedia homoeocarpa
(species) D
beta-tubulin
Clarireedia homoeocarpa
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001795
TUB2
P02557
Physiology
Glu1198Lys
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001796
TUB2
P02557
Physiology
Glu1198Ala
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001797
TUB2
P02557
Physiology
Glu1198Ala
D
beta-tubulin
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Monilinia fructicola
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001798
TUB2
P02557
Physiology
Glu1198Lys
Monilinia fructicola
(species)
Monilinia fructicola
(species) D
beta-tubulin
Monilinia fructicola
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium puberulum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001799
TUB2
P02557
Physiology
Glu1198Lys
Penicillium puberulum
(species)
Penicillium puberulum
(species) D
beta-tubulin
Penicillium puberulum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium puberulum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001800
TUB2
P02557
Physiology
Glu1198Ala
Penicillium puberulum
(species)
Penicillium puberulum
(species) D
beta-tubulin
Penicillium puberulum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium digitatum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001801
TUB2
P02557
Physiology
Glu1198Lys
Penicillium digitatum
(species)
Penicillium digitatum
(species) D
beta-tubulin
Penicillium digitatum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium expansum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001802
TUB2
P02557
Physiology
Glu1198Ala
Penicillium expansum
(species)
Penicillium expansum
(species) D
beta-tubulin
Penicillium expansum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium italicum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001803
TUB2
P02557
Physiology
Glu198Lys
Penicillium italicum
(species)
Penicillium italicum
(species) D
beta-tubulin
Penicillium italicum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Teladorsagia circumcincta
(species) D
Intraspecific
Candidate Gene
Elard L; Humbert JF (1999)
Importance of the mutation of amino acid 200 of the isotype 1 beta-tubulin gene in the benzimidazole[...]
GP00001815
TUB2
P02557
Physiology
Phe200Tyr
Teladorsagia circumcincta
(species)
Teladorsagia circumcincta
(species) D
beta-tubulin
Teladorsagia circumcincta
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Prichard R; Oxberry M; Bounhas Y ; et al. (2000
)
Polymerisation and benzimidazole binding assays with recombinant α-and β-tubulins from Haemonchus co[...]
2 Additional References
GP00001816
TUB2
P02557
Physiology
Phe167Tyr - In vitro assays have demonstrated that a Tyr residue in position 167 of b-tubulin impeded BZ binding with recombinant H. contortus b-tubulin (produced in a prokaryote system)
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Cyathostoma
(genus) D
Intraspecific
Candidate Gene
Silvestre A; Cabaret J (2002)
Mutation in position 167 of isotype 1 beta-tubulin gene of Trichostrongylid nematodes: role in benzi[...]
1 Additional References
GP00001817
TUB2
P02557
Physiology
Phe167Tyr - In vitro assays have demonstrated that a Tyr residue in position 167 of b-tubulin impeded BZ binding with recombinant H. contortus and S. cerevisiae b-tubulin (produced in a prokaryote system)
Cyathostoma
(genus)
Cyathostoma
(genus) D
beta-tubulin
Cyathostoma
(genus)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Neurospora crassa
(species) D
Intraspecific
Candidate Gene
Orbach MJ; Porro EB; Yanofsky C (1986)
Cloning and characterization of the gene for beta-tubulin from a benomyl-resistant mutant of Neurosp[...]
GP00001818
TUB2
P02557
Physiology
Phe167Tyr
Neurospora crassa
(species)
Neurospora crassa
(species) D
beta-tubulin
Neurospora crassa
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Teladorsagia circumcincta
(species) D
Intraspecific
Candidate Gene
Silvestre A; Cabaret J (2002)
Mutation in position 167 of isotype 1 beta-tubulin gene of Trichostrongylid nematodes: role in benzi[...]
GP00001819
TUB2
P02557
Physiology
Phe167Tyr
Teladorsagia circumcincta
(species)
Teladorsagia circumcincta
(species) D
beta-tubulin
Teladorsagia circumcincta
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Ghisi M; Kaminsky R; Mäser P (2007)
Phenotyping and genotyping of Haemonchus contortus isolates reveals a new putative candidate mutatio[...]
GP00001820
TUB2
P02557
Physiology
Glu198Ala
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
GP00001821
TUB2
P02557
Physiology
Phe200Tyr
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
GP00001822
TUB2
P02557
Physiology
Phe200Tyr
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001823
TUB2
P02557
Physiology
E198A
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001824
TUB2
P02557
Physiology
E198G
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001825
TUB2
P02557
Physiology
E198K
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001826
TUB2
P02557
Physiology
E198A
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001827
TUB2
P02557
Physiology
E198G
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001828
TUB2
P02557
Physiology
E198Q
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001829
TUB2
P02557
Physiology
L240F
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001830
TUB2
P02557
Physiology
A185P - missense_variant_c.553G>C_3539974 – A185P N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001832
TUB2
P02557
Physiology
stop_gained_HIGH_c.1267C>T_3538394 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001833
TUB2
P02557
Physiology
Trans_3538426_3538832 – insertion of a transposable element = a cut and paste DNA transposon Tc5B - which is part of the TcMar-Tc4 transposon superfamily– 406bp of the reference sequence seem to be disrupted- Steffen Hahnel comment : Since we didn't re-amplify the insertion by PCR; we don't know its exact location; sequence and size. Its identification is only based on the illumina reads of genome sequencing of JU3125. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001834
TUB2
P02557
Physiology
missense_variant_MODERATE_c.1210G>A_3538451 – D404N N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001835
TUB2
P02557
Physiology
Del_3539006_3539808 – 802bp deletion of coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001836
TUB2
P02557
Physiology
stop_gained_HIGH_c.1135A>T_3539335 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001837
TUB2
P02557
Physiology
stop_gained_HIGH_c.1112C>A_3539358 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001838
TUB2
P02557
Physiology
Del_3539375_3539378 – 3bp deletion in coding exon 4 predicted to cause a frameshift in the ben-1 open reading frame N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001839
TUB2
P02557
Physiology
Del_3539470_3539471 – 1bp deletion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001840
TUB2
P02557
Physiology
Del_3539507_3539514 – 7bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001841
TUB2
P02557
Physiology
Del_3539559_3539745 – 186 bp deletion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001842
TUB2
P02557
Physiology
Ins_3539575_3539576 – Steffen Hahnel comment: 1 bp insertion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001843
TUB2
P02557
Physiology
missense_variant_MODERATE_c.771G>A_3539699 – M257I N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001844
TUB2
P02557
Physiology
Del_3539746_3539908 – 162 bp deletion in exon3-4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001845
TUB2
P02557
Physiology
stop_gained_HIGH_c.549C>A_3539978 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001846
TUB2
P02557
Physiology
missense_variant_MODERATE_c.434C>T_3540145 – S145F N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001847
TUB2
P02557
Physiology
missense_variant_MODERATE_c.392A>T_3540187 – comment from Steffen Hahnel: The amino acid change is Q131L. This strain was excluded from the original screen because it was slow growing. We re-phenotyped it later (see Sup Fig. 9) N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001848
TUB2
P02557
Physiology
Del_3540300_3540301 – 1bp deletion in coding exon 2 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Inversion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001849
TUB2
P02557
Physiology
Inv_3540316_3543965 – 3649bp inversion – the text indicates that there is “a 1kb inversion that spans exon 1 and the promoter region” but the nucleotide numbers in the supplemental table indicates that 3.6kb are disrupted. Steffen Hahnel comment: we don't know the exact size of this large structural variation. I estimated conservatively from the BAM files that a region of 3649 bp is messed up in this strain compared to wildtype including one or more inversions. The largest inversion is around 1 kb. If one wants to be sure about size and location you would need to amplify this region by PCR N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Unknown
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001850
TUB2
P02557
Physiology
Del_3540369_3540369 and missense_variant_c.206A>G_3540373 E69G - the amino acid substitution (E69G) co-occurs with a deletion in exon 2 that is predicted to cause a frameshift in the ben-1 open reading frame – not sure which mutation or both are responsible for the phenotype N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001851
TUB2
P02557
Physiology
Del_3540407_3540408 – 1bp deletion in coding exon 2 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001852
TUB2
P02557
Physiology
Del_3540970_3544000 – 3030bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001853
TUB2
P02557
Physiology
Del_3541317_3541856 – 539 bp deletion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001854
TUB2
P02557
Physiology
splice_donor_variant and intron_variant – first coding exon – c.166+1G>A_3541427 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001855
TUB2
P02557
Physiology
stop_gained_HIGH_c.153T>G_3541441 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001856
TUB2
P02557
Physiology
Del_3541499_3541502 – 3bp deletion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001857
TUB2
P02557
Physiology
Ins_3541547_3541548 – 1 bp insertion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben4)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Aspergillus nidulans
(species) D
Intraspecific
Candidate Gene
Jung MK; Wilder IB; Oakley BR (1992)
Amino acid alterations in the benA (beta-tubulin) gene of Aspergillus nidulans that confer benomyl r[...]
1 Additional References
GP00001787
TUB2
P02557
Physiology
Phe200Tyr
Aspergillus nidulans
(species)
Aspergillus nidulans
(species) D
beta-tubulin (ben4)
Aspergillus nidulans
(species)
Published - Accepted by Curator
Bh4
Coloration (seed hull)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Zhu BF; Si L; Wang Z ; et al. (2011)
Genetic control of a transition from black to straw-white seed hull in rice domestication.
1 Additional References
GP00000143
Bh4
A0A0H3ZGK8
Morphology
22-bp deletion N
Oryza rufipogon
(species)
Oryza sativa
rice - (species) D
Bh4
Oryza sativa
rice - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002078
BHLH2
Q9CAD0
Morphology
two copies of 3.9-kb Tip100 integrated into bHLH2 exon 7 and intron 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002085
BHLH2
Q9CAD0
Morphology
only one copy of Tip100 in exon 7 and no apparent footprint of Tip100 in intron 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002086
BHLH2
Q9CAD0
Morphology
insertion of 838 bp IpMu1 in exon 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flowers; seeds)
Coding,
Insertion
N
Ipomoea tricolor
(species) D
Domesticated
Candidate Gene
Park KI; Choi JD; Hoshino A ; et al. (2004)
An intragenic tandem duplication in a transcriptional regulatory gene for anthocyanin biosynthesis c[...]
GP00002091
BHLH2
Q9CAD0
Morphology
intragenic tandem duplication of 3.3 kbp of the bHLH2 gene. Each of the tandem repeats is flanked by a 3-bp sequence AAT; indicating that the 3-bp microhomology is used to generate the tandem duplication. The transcripts in the pale-blue flower buds of the mutant contain an internal 583-bp tandem duplication that results in the production of a truncated polypeptide lacking the bHLH domain. The mRNA accumulation of most of the structural genes encoding enzymes for anthocyanin biosynthesis in the flower buds of the mutant was significantly reduced. The transcripts identical to the wild-type mRNAs for the transcriptional activator were present abundantly in blue spots of the variegated flowers whereas the transcripts containing the 583-bp tandem duplication were predominant in the pale-blue background of the same flowers. The flower and seed variegations studied here are likely to be caused by somatic homologous recombination between an intragenic tandem duplication in the gene encoding a bHLH transcriptional activator for anthocyanin biosynthesis. N
Ipomoea tricolor
(species)
Ipomoea tricolor
(species) D
bHLH2
Ipomoea tricolor
(species)
Published - Accepted by Curator
bHLH2
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Domesticated
Candidate Gene
Spelt C; Quattrocchio F; Mol J ; et al. (2002)
ANTHOCYANIN1 of petunia controls pigment synthesis, vacuolar pH, and seed coat development by geneti[...]
GP00002092
BHLH2
Q9CAD0
Morphology
insertion of a dTph1 transposon in the AN1 gene N
Petunia axillaris
(species)
Petunia axillaris
(species) D
bHLH2
Petunia axillaris
(species)
Published - Accepted by Curator
Bm-iAANAT
Coloration (larva)
Coding,
Deletion
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Zhan S; Guo Q; Li M ; et al. (2010)
Disruption of an N-acetyltransferase gene in the silkworm reveals a novel role in pigmentation.
1 Additional References
GP00000145
Aanat
D6MKR2
Morphology
126-bp deletion overlapping with end of exon 4 and resulting in misplicing. Linkage analysis and genomic studies have shown that Bombyx arylalkamine-N-acetyl transferase, the homologous gene (Dat) that converts dopamine into N-acetyl dopamine, encodes a precursor of N-acetyl dopamine, sclerotin in Drosophila and it is the gene responsible for mln. N
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Bm-iAANAT
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001488
BMH1
P29311
Physiology
C>G p.Y216* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001489
BMH1
P29311
Physiology
G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001490
BMH1
P29311
Physiology
A>T p.K217* (2 times independently). Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001491
BMH1
P29311
Physiology
G>A p.D101N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001492
BMH1
P29311
Physiology
T>G p.L230* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001493
BMH1
P29311
Physiology
C>A p.N178K located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001494
BMH1
P29311
Physiology
G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001495
BMH1
P29311
Physiology
G>T p.G174V homozygous functionally disruptive located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001496
BMH1
P29311
Physiology
G>A p.G174D located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001497
BMH1
P29311
Physiology
A>G p.N178S homozygous functionally disruptive located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001498
BMH1
P29311
Physiology
G>A p.G55D located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMP receptor IB (BMPRIB)
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Mulsant P; Lecerf F; Fabre S ; et al. (2001)
Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Bo[...]
GP00000146
BMPR-IB
Q9BDI4
Physiology
g.29382188A>G c.914A>G p.Q305R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP receptor IB (BMPRIB)
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00000147
Bmp15
Q9Z0L4
Physiology
c.67C>T p.Q23* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00000148
Bmp15
Q9Z0L4
Physiology
A distinct single T>A transition occurs in FecXI carriers at nucleotide position 92 of the mature peptide . . . The mutation substitutes valine (V) with aspartic acid (D) at residue 31 (residue 299 of unprocessed protein) . . . The FecXI mutation is a non-conservative change in a highly conserved region of the protein
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000149
Bmp15
Q9Z0L4
Physiology
c.950C>T p.T317I
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000150
Bmp15
Q9Z0L4
Physiology
c.1009A>C p.N337H
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002155
Bmp15
Q9Z0L4
Physiology
c.718C>T ; p.Q239* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00002156
Bmp15
Q9Z0L4
Physiology
c.G>A p.C321Y missense nonconservative substitution ; in vitro studies showed that the C53Y mutation was responsible for the impairment of the maturation process of the BMP15 protein resulting in a defective secretion of both the precursor and mature peptide
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002157
Bmp15
Q9Z0L4
Physiology
c.1100G>T p.S367I
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Martinez-Royo A; Jurado JJ; Smulders JP ; et al. (2008)
A deletion in the bone morphogenetic protein 15 gene causes sterility and increased prolificacy in R[...]
1 Additional References
GP00002158
Bmp15
Q9Z0L4
Physiology
c.525_541del17 p.Pro45Asnfs*54 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
Insertion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Lassoued N; Benkhlil Z; Woloszyn F ; et al. (2017)
FecX a Novel BMP15 mutation responsible for prolificacy and female sterility in Tunisian Barbarine [...]
GP00002159
Bmp15
Q9Z0L4
Physiology
C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP3 or PRKG2
Cranio-facial morphology
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Schoenebeck JJ; Hutchinson SA; Byers A ; et al. (2012)
Variation of BMP3 contributes to dog breed skull diversity.
GP00000152
Bmp3
Q8BHE5
Morphology
F452L in BMP3 ; this missense mutation is in a conserved position and correlates well with small breeds. However; the functional data (zebrafish BMP3 morpholino knockdown) proposed in this article is inconsistent with the mice BMP3 null-mutation
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
BMP3 or PRKG2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
BRANCHED1a (BRC1a)
Plant architecture
Inflorescence architecture
Coding,
SNP
Solanum
(genus) D
Intergeneric or Higher
Candidate Gene
Nicolas M; Rodríguez-Buey ML; Franco-Zorrilla JM ; et al. (2015)
A Recently Evolved Alternative Splice Site in the BRANCHED1a Gene Controls Potato Plant Architecture[...]
GP00000156
BRC1A
F6KB94
Morphology
Morphology
Evolution of an alternative splice site (G>A) that unlocks a short isoform
Capsicum annuum
(species)
Solanum
(genus) D
BRANCHED1a (BRC1a)
Solanum
(genus)
Published - Accepted by Curator
Brevis radix (BRX)
Root size (shorter)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Mouchel CF; Briggs GC; Hardtke CS (2004)
Natural genetic variation in Arabidopsis identifies BREVIS RADIX, a novel regulator of cell prolifer[...]
GP00000157
BRX
Q17TI5
Morphology
premature stop codon in exon 4; TGG>TGA; truncated protein missing approximately two-thirds of the C terminus N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Brevis radix (BRX)
pH tolerance (acidic soil)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Gujas B; Alonso-Blanco C; Hardtke CS (2012)
Natural Arabidopsis brx loss-of-function alleles confer root adaptation to acidic soil.
GP00001236
BRX
Q17TI5
Physiology
K188* (stop codon) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Brevis radix (BRX)
Root growth
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Beuchat J; Li S; Ragni L ; et al. (2010)
A hyperactive quantitative trait locus allele of Arabidopsis BRX contributes to natural variation in[...]
GP00001262
BRX
Q17TI5
Morphology
21bp deletion at position in spacer 3 (position not given)
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
BTN1A1
Pathogen resistance (virus)
Coding,
SNP
N
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Elleder D; Stepanets V; Melder DC ; et al. (2005)
The receptor for the subgroup C avian sarcoma and leukosis viruses, Tvc, is related to mammalian but[...]
GP00002160
BTN1A1
Q13410
Physiology
g.808011C>A c.165C>A p.C55* N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
BTN1A1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
btr1
Seed shattering (grain dispersal ; retention)
Coding,
Deletion
N
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
Domesticated
Linkage Mapping
Pourkheirandish M; Hensel G; Kilian B ; et al. (2015)
Evolution of the Grain Dispersal System in Barley.
GP00001445
BTR1
A0A0K1RJT0
Physiology
1bp deletion at position 202 inducing a frameshift N
Hordeum vulgare
(species)
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
btr1
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies)
Published - Accepted by Curator
btr2
Seed shattering (grain dispersal ; retention)
Coding,
Deletion
N
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
Domesticated
Linkage Mapping
Pourkheirandish M; Hensel G; Kilian B ; et al. (2015)
Evolution of the Grain Dispersal System in Barley.
GP00001446
BTR2
A0A0K1RKV9
Physiology
11bp deletion at position 254-264 creating a frameshift N
Hordeum vulgare
(species)
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
btr2
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies)
Published - Accepted by Curator
BUL2
Telomere length
Aging
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Kwan EX; Foss E; Kruglyak L ; et al. (2011)
Natural polymorphism in BUL2 links cellular amino acid availability with chronological aging and tel[...]
GP00000166
BUL2
Q03758
Physiology
Physiology
Leu883Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
BUL2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BvCPSF73-Ia
Bolting time
Coding,
Deletion
N
Beta vulgaris
(species) D
Intraspecific
Linkage Mapping
Tränkner C; Lemnian IM; Emrani N ; et al. (2016)
A Detailed Analysis of the BR Locus Suggests a New Mechanism for Bolting after Winter in Sugar Beet [...]
GP00001411
CPSF73-I
Q9C952
Physiology
2bp deletion causing a frameshift resulting in a two third truncated protein N
Beta vulgaris
(species)
Beta vulgaris
(species) D
BvCPSF73-Ia
Beta vulgaris
(species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac)
Coding,
Unknown
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Xu X; Yu L; Wu Y (2005)
Disruption of a cadherin gene associated with resistance to Cry1Ac {delta}-endotoxin of Bacillus thu[...]
GP00000160
BtR
Q19KJ3
Physiology
premature stop codon in exon 4; truncated protein missing approximately two-thirds of the C terminus N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
cadherin
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Insertion
N
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Gahan LJ; Gould F; Heckel DG (2001)
Identification of a gene associated with Bt resistance in Heliothis virescens.
GP00000161
BtR
Q19KJ3
Physiology
Insertion of retrotransposon N
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
cadherin
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000162
BtR
Q19KJ3
Physiology
126bp in-frame deletion N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000163
BtR
Q19KJ3
Physiology
202bp deletion N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000164
BtR
Q19KJ3
Physiology
24bp in-frame deletion
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
SNP
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Zhang H; Tian W; Zhao J ; et al. (2012)
Diverse genetic basis of field-evolved resistance to Bt cotton in cotton bollworm from China.
GP00000165
BtR
Q19KJ3
Physiology
E1266L R1268E and E1270V - whether each mutation has an effect or only one of them is unknown
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac)
Coding,
SNP
N
Helicoverpa punctigera
(species) D
Intraspecific
Candidate Gene
Walsh T; James B; Chakroun M ; et al. (2018)
Isolating, characterising and identifying a Cry1Ac resistance mutation in field populations of Helic[...]
GP00002055
BtR
Q19KJ3
Physiology
splice site GT mutated in GA so that splicing does not occur correctly and a 58 bp insertion is found in the cDNA sequence of the cadherin gene. This insertion disrupts the coding sequence in cadherin domain 9 causing a downstream frameshift and a premature stop codon for the rest of the protein. This would result in a truncated protein of 1243 amino acids without the putative binding domain; the membrane anchoring domain; presumably retained inside the cell and not exposed to the Cry1Ac; or alternatively; exported into the gut where it would be degraded N
Helicoverpa punctigera
(species)
Helicoverpa punctigera
(species) D
cadherin
Helicoverpa punctigera
(species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00002449
A0A1B0RHM4
Physiology
insertion into PgCad1 of an active chicken repeat (CR1) retrotransposon designated CR1-1_Pg. Unlike most other CR1 elements CR1-1_Pg is intact and transcribed by a flanking promoter. It contains target site duplications and has a relatively low number of copies. Examination of transcripts from the PgCad1 locus revealed that CR1-1_Pg disrupts both the cadherin protein and a long noncoding RNA of unknown function. N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
GP00002450
A0A1B0RHM4
Physiology
24-bp deletion in putative exon 21 causing the loss of eight amino acid residues N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
GP00002451
A0A1B0RHM4
Physiology
126-bp deletion spanning a putative intron 15/exon 16 splice site that introduces a premature stop codon and causes loss of the final 929 amino acid residues. N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Deletion
Ostrinia furnacalis
Asian corn borer - (species) D
Intraspecific
Candidate Gene
Jin T; Chang X; Gatehouse AM ; et al. (2014)
Downregulation and mutation of a Cadherin gene associated with Cry1Ac resistance in the Asian Corn B[...]
1 Additional References
GP00002464
A0A1B0RHM4
Physiology
MPR-r2 has a 26-amino acid residue deletion in the TBR which results in reduced binding of Cry1Ac compared to the MPR from the susceptible strain.
Ostrinia furnacalis
Asian corn borer - (species)
Ostrinia furnacalis
Asian corn borer - (species) D
cadherin
Ostrinia furnacalis
Asian corn borer - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
Ostrinia furnacalis
Asian corn borer - (species) D
Intraspecific
Candidate Gene
Jin T; Chang X; Gatehouse AM ; et al. (2014)
Downregulation and mutation of a Cadherin gene associated with Cry1Ac resistance in the Asian Corn B[...]
1 Additional References
GP00002465
A0A1B0RHM4
Physiology
Thr1457Ser
Ostrinia furnacalis
Asian corn borer - (species)
Ostrinia furnacalis
Asian corn borer - (species) D
cadherin
Ostrinia furnacalis
Asian corn borer - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
Insertion
N
Tribolium castaneum
red flour beetle - (species) D
Domesticated
Candidate Gene
Shirai Y; Daimon T (2020)
Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]
GP00002665
cd
Q9VCW2
Morphology
A fragment of a transposable element (about 5 kb - 99% identical in amino acids to a putative retrotransposon (XP_015838217)) is inserted into exon 6. This insertion introduced a premature stop codon just after the insertion site. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species) D
cardinal
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
Deletion
N
Tribolium castaneum
red flour beetle - (species) D
Domesticated
Candidate Gene
Shirai Y; Daimon T (2020)
Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]
GP00002666
cd
Q9VCW2
Morphology
1-bp deletion in exon 6 that causes a frameshift mutation. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species) D
cardinal
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
SNP
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Candidate Gene
Osanai-Futahashi M; Tatematsu KI; Futahashi R ; et al. (2016)
Positional cloning of a Bombyx pink-eyed white egg locus reveals the major role of cardinal in ommoc[...]
GP00002667
cd
Q9VCW2
Morphology
Missense mutation in a conserved motif in exon 9. The tryptophan residue which is converted to arginine in the two pe strains is widely conserved in holometabolous insects. N
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
cardinal
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Catecholamines up
Bristle number
Lifespan
Locomotor activity
Sleep
Coding,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Carbone MA; Jordan KW; Lyman RF ; et al. (2006)
Phenotypic variation and natural selection at catsup, a pleiotropic quantitative trait gene in Droso[...]
1 Additional References
GP00000172
Catsup
Q9V3A4
Morphology
Physiology
Behavior
Behavior
unknown; but most large-effect variants appear to be coding
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Catecholamines up
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cathepsin E
Digestion (absence of stomach)
2 Mutations:
Coding
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001910
CTSE
P14091
Physiology
2 mutations
Monodelphis domestica
gray short-tailed opossum - (species)
Homo sapiens
human - (species)
Ornithorhynchus anatinus
platypus - (species) D
cathepsin E
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
Cauliflower (BoCAL)
Inflorescence morphology
Coding,
SNP
N
Brassica oleracea var. botrytis
(varietas) D
Domesticated
Candidate Gene
Kempin SA; Savidge B; Yanofsky MF (1995)
Molecular basis of the cauliflower phenotype in Arabidopsis.
1 Additional References
GP00000173
CAL
Q39081
Morphology
GAG>TAG; E151*; protein truncated after only 150 of the 255 amino acids of the wild-type protein N
Brassica oleracea
wild cabbage - (species)
Brassica oleracea var. botrytis
(varietas) D
Cauliflower (BoCAL)
Brassica oleracea var. botrytis
(varietas)
Published - Accepted by Curator
CBF12
Temperature tolerance (cold)
Coding,
Unknown
Triticum monococcum
(species)
Domesticated
Linkage Mapping
Knox AK; Li C; Vágújfalvi A ; et al. (2008)
Identification of candidate CBF genes for the frost tolerance locus Fr-Am2 in Triticum monococcum.
GP00000175
B1NSN2
Physiology
possibly 5a.a. deletion in DNA binding domain
Triticum monococcum
(species)
Triticum monococcum
(species)
CBF12
Triticum monococcum
(species)
Published - Accepted by Curator
CDKN2A
Coloration (feathers ; sex-linked dilution)
2 Mutations:
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Schwochow Thalmann D; Ring H; Sundström E ; et al. (2017)
The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes [...]
1 Additional References
GP00000178
CDKN2A
P42771
Morphology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
CDKN2A
Gallus gallus
chicken - (species)
Published - Accepted by Curator
CDKN2A
Coloration (feathers ; sex-linked barring)
2 Mutations:
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Schwochow Thalmann D; Ring H; Sundström E ; et al. (2017)
The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes [...]
1 Additional References
GP00002162
CDKN2A
P42771
Morphology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
CDKN2A
Gallus gallus
chicken - (species)
Published - Accepted by Curator
CENTRORADIALIS (HvCEN)
Flowering time
Seasonal growth
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Comadran J; Kilian B; Russell J ; et al. (2012)
Natural variation in a homolog of Antirrhinum CENTRORADIALIS contributed to spring growth habit and [...]
GP00000179
CEN
Q9ZNV5
Physiology
Physiology
P135A
Hordeum vulgare
(species)
Hordeum vulgare
(species)
CENTRORADIALIS (HvCEN)
Hordeum vulgare
(species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide ; benzoylurea)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Douris V; Steinbach D; Panteleri R ; et al. (2016)
Resistance mutation conserved between insects and mites unravels the benzoylurea insecticide mode of[...]
GP00001600
CHS1
A3KCN0
Physiology
T>G p.I1042M (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
Chitin synthase 1 (CHS1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; benzoylurea)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Douris V; Steinbach D; Panteleri R ; et al. (2016)
Resistance mutation conserved between insects and mites unravels the benzoylurea insecticide mode of[...]
GP00001601
CHS1
A3KCN0
Physiology
A>T p.I1042F (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
Chitin synthase 1 (CHS1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; etoxazole acaricide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species)
Intraspecific
Linkage Mapping
Demaeght P; Osborne EJ; Odman-Naresh J ; et al. (2014)
High resolution genetic mapping uncovers chitin synthase-1 as the target-site of the structurally di[...]
1 Additional References
GP00001602
chs1
H9U0G2
Physiology
A>T p.I1017F (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species)
Chitin synthase 1 (CHS1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; benzoylurea)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Suzuki Y; Shiotsuki T; Jouraku A ; et al. (2017)
Benzoylurea resistance in western flower thrips Frankliniella occidentalis (Thysanoptera: Thripidae)[...]
GP00002628
CHS1
A3KCN0
Physiology
isoleucine to methionine
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
Chitin synthase 1 (CHS1)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
CHKov1
Pathogen resistance
Xenobiotic resistance (insecticide)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Magwire MM; Bayer F; Webster CL ; et al. (2011)
Successive increases in the resistance of Drosophila to viral infection through a transposon inserti[...]
1 Additional References
GP00000182
CHKov1
Q961V7
Physiology
Physiology
Insertion of a Doc TE element resulting in novel; seemingly functional short protein
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
CHKov1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
chloroquine resistance transporter
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001533
CRT
Q9N623
Physiology
p.Ile356Thr
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
chloroquine resistance transporter
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
chordin
Fin morphology (skeleton; dorsal fin; caudal fin; tail; paired fin)
Coding,
SNP
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Abe G; Lee SH; Chang M ; et al. (2014)
The origin of the bifurcated axial skeletal system in the twin-tail goldfish.
1 Additional References
GP00002346
chdA
W8VTE1
Morphology
stop codon in codon 127. GAG (E) -> TAG (STOP). Predicted to result in a truncated protein lacking the second to fourth CR domains. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
chordin
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
2 Mutations:
Coding
SNP
Erinaceus concolor
southern white-breasted hedgehog - (species) D
Erinaceus europaeus
western European hedgehog - (species) D
Intergeneric or Higher
Candidate Gene
Drabeck DH; Dean AM; Jansa SA (2015)
Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]
GP00000183
CHRNA1
P02708
Physiology
2 mutations
Carnivora
carnivores - (order)
Erinaceus concolor
southern white-breasted hedgehog - (species) D
Erinaceus europaeus
western European hedgehog - (species) D
CHRNA1
Erinaceus concolor
southern white-breasted hedgehog - (species)
Erinaceus europaeus
western European hedgehog - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
2 Mutations:
Coding
SNP
Mellivora capensis
ratel - (species) D
Intergeneric or Higher
Candidate Gene
Drabeck DH; Dean AM; Jansa SA (2015)
Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]
GP00000184
CHRNA1
P02708
Physiology
2 mutations
Carnivora
carnivores - (order)
Mellivora capensis
ratel - (species) D
CHRNA1
Mellivora capensis
ratel - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
4 Mutations:
Coding
SNP
Herpestes ichneumon
Egyptian mongoose - (species) D
Intergeneric or Higher
Candidate Gene
Barchan D; Kachalsky S; Neumann D ; et al. (1992)
How the mongoose can fight the snake: the binding site of the mongoose acetylcholine receptor.
2 Additional References
GP00001686
CHRNA1
P02708
Physiology
4 mutations
Carnivora
carnivores - (order)
Herpestes ichneumon
Egyptian mongoose - (species) D
CHRNA1
Herpestes ichneumon
Egyptian mongoose - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
Coding,
SNP
Naja haje
(species) D
Intergeneric or Higher
Candidate Gene
Takacs Z; Wilhelmsen KC; Sorota S (2004)
Cobra ( Naja spp. ) nicotinic acetylcholine receptor exhibits resistance to Erabu sea snake ( Latica[...]
GP00001720
CHRNA1
P02708
Physiology
Phe189Asn - The inhibitory effect on the pharmacological action of the toxin is primarily attributed to the presence of glycosylation at position N189.
Carnivora
carnivores - (order)
Naja haje
(species) D
CHRNA1
Naja haje
(species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
2 Mutations:
Coding
SNP
Sus scrofa
pig - (species) D
Intergeneric or Higher
Candidate Gene
Drabeck DH; Dean AM; Jansa SA (2015)
Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]
GP00001721
CHRNA1
P02708
Physiology
2 mutations
Carnivora
carnivores - (order)
Sus scrofa
pig - (species) D
CHRNA1
Sus scrofa
pig - (species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
3 Mutations:
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Amrad A; Moser M; Mandel T ; et al. (2016)
Gain and Loss of Floral Scent Production through Changes in Structural Genes during Pollinator-Media[...]
GP00001391
CNL
A0A172W603
Physiology
3 mutations
Petunia axillaris
(species)
Petunia exserta
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Petunia exserta
(species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
Coding,
SNP
N
Capsella rubella
(species) D
Interspecific
Linkage Mapping
Sas C; Müller F; Kappel C ; et al. (2016)
Repeated Inactivation of the First Committed Enzyme Underlies the Loss of Benzaldehyde Emission afte[...]
GP00001767
CNL
A0A172W603
Physiology
serine-to-arginine exchange at position 453 (T-to-A nucleotide exchange at genomic position 7 539 424) - this mutation is located immediately next to highly conserved amino acids predicted to be involved in adenosine monophosphate and coenzyme A binding; it involves two biochemically very dissimilar amino acids; and the serine at this position is conserved N
Capsella grandiflora
(species)
Capsella rubella
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Capsella rubella
(species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
Coding,
Deletion
N
Capsella rubella
(species) D
Interspecific
Linkage Mapping
Sas C; Müller F; Kappel C ; et al. (2016)
Repeated Inactivation of the First Committed Enzyme Underlies the Loss of Benzaldehyde Emission afte[...]
GP00001768
CNL
A0A172W603
Physiology
a 4 bp deletion resulting in a frameshift 795 bp downstream of the start codon and causing a premature stop codon N
Capsella grandiflora
(species)
Capsella rubella
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Capsella rubella
(species)
Published - Accepted by Curator
CINNAMOYL CO-A REDUCTASE 1
Fiber content
Coding,
Unknown
N
Brassica napus
rape - (species)
Domesticated
Linkage Mapping
Liu L; Stein A; Wittkop B ; et al. (2012)
A knockout mutation in the lignin biosynthesis gene CCR1 explains a major QTL for acid detergent lig[...]
GP00000186
CCR1
Q9S9N9
Physiology
Frameshift mutation in exon1 N
Brassica napus
rape - (species)
Brassica napus
rape - (species)
CINNAMOYL CO-A REDUCTASE 1
Brassica napus
rape - (species)
Published - Accepted by Curator
CmACS-7
Flower sex determination (male organs)
Coding,
SNP
Cucumis melo
muskmelon - (species)
Domesticated
Linkage Mapping
Boualem A; Fergany M; Fernandez R ; et al. (2008)
A conserved mutation in an ethylene biosynthesis enzyme leads to andromonoecy in melons.
GP00000187
ACS7
Q9STR4
Physiology
A57V
Cucumis melo
muskmelon - (species)
Cucumis melo
muskmelon - (species)
CmACS-7
Cucumis melo
muskmelon - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
1 Additional References
GP00002163
Cmah
Q61419
Physiology
c.179G>T p.G60V
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
1 Additional References
GP00002164
Cmah
Q61419
Physiology
c.364C>T p.P122S
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002165
Cmah
Q61419
Physiology
c.1322delT p.Leu441* N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002166
Cmah
Q61419
Physiology
c.139G>A p.V47M
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002167
Cmah
Q61419
Physiology
c.268T>A p.Y89N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002168
Cmah
Q61419
Physiology
c.1600G>A p.D534N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CNL9 (=Sr35)
Pathogen resistance
Coding,
Complex Change
Triticum monococcum
(species)
Domesticated
Linkage Mapping
Saintenac C; Zhang W; Salcedo A ; et al. (2013)
Identification of wheat gene Sr35 that confers resistance to Ug99 stem rust race group.
GP00000189
Sr35
S5ABD6
Physiology
Coding variation in the LRR domain - a spontaneous gene conversion between CNL4 and CNL9 is the most parsimonious explanation for the three linked mutations in CNL9
Triticum monococcum
(species)
Triticum monococcum
(species)
CNL9 (=Sr35)
Triticum monococcum
(species)
Published - Accepted by Curator
coatomer protein complex subunit alpha (COPA)
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Dorshorst B; Henegar C; Liao X ; et al. (2015)
Dominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Pr[...]
GP00001329
COPA
P53621
Morphology
c.C>T p.Arg160Cys
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
coatomer protein complex subunit alpha (COPA)
Bos taurus
cattle - (species)
Published - Accepted by Curator
CORIN
Coloration (coat)
Coding,
SNP
Panthera tigris
tiger - (species) D
Intraspecific
Linkage Mapping
Xu X; Dong GX; Schmidt-Küntzel A ; et al. (2017)
The genetics of tiger pelage color variations.
GP00002169
Corin
Q9Z319
Morphology
c.1759C >T p.H587Y
Panthera tigris
tiger - (species)
Panthera tigris
tiger - (species) D
CORIN
Panthera tigris
tiger - (species)
Published - Accepted by Curator
Couch potato
Diapause
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Schmidt PS; Zhu CT; Das J ; et al. (2008)
An amino acid polymorphism in the couch potato gene forms the basis for climatic adaptation in Droso[...]
GP00000191
cpo
Q01617
Physiology
Ile462Lys
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Couch potato
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
COX18
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001708
COX18
P53239
Physiology
Leu59His (T>A at position 617107 according to Table 1) - CTY to CAY position 617107
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
COX18
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
SNP
N
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Darboux I; Charles JF; Pauchet Y ; et al. (2007)
Transposon-mediated resistance to Bacillus sphaericus in a field-evolved population of Culex pipiens[...]
GP00002102
Q95WY5
Physiology
Gln396Stop - nonsense mutation which causes the loss of the C-terminal domain required for a proper anchoring of the receptor to the cell surface and thus disrupts a crucial step in the toxic properties of B. sphaericus toxin. N
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Cpm1
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
Insertion
N
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Darboux I; Charles JF; Pauchet Y ; et al. (2007)
Transposon-mediated resistance to Bacillus sphaericus in a field-evolved population of Culex pipiens[...]
GP00002103
Q95WY5
Physiology
Insertion of a 451-bpTE into the exon 2 of the toxin receptor gene. The insertion induces a new mRNA splicing event that creates a shorter transcript. This new transcript encodes an altered receptor unable to interact with the toxin resulting in resistance to this insecticide. The missing portion includes GPI-anchoring signals N
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Cpm1
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
Deletion
N
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Guo QY; Cai QX; Yan JP ; et al. (2013)
Single nucleotide deletion of cqm1 gene results in the development of resistance to Bacillus sphaeri[...]
1 Additional References
GP00002552
Q95WY5
Physiology
one-nucleotide deletion which results in a premature stop codon and leads to production of a truncated protein. N
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
Cpm1
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
CREBRF
Body size (obesity)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Minster RL; Hawley NL; Su CT ; et al. (2016)
A thrifty variant in CREBRF strongly influences body mass index in Samoans.
GP00001444
CREBRF
Q8IUR6
Morphology
c.1370G>A p.Arg457Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
CREBRF
Homo sapiens
human - (species)
Published - Accepted by Curator
Cryptochrome 2 (CRY2) EDI allele
Flowering time
Fruit shape (fruit length)
Flower morphology (ovule number per fruit)
Fertility (percentage of unfertilized ovules)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
El-Din El-Assal S; Alonso-Blanco C; Peeters AJ ; et al. (2001)
A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2.
3 Additional References
GP00000192
CRY2
Q96524
Physiology
Morphology
Morphology
Physiology
V367M
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Cryptochrome 2 (CRY2) EDI allele
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
CXCL16
Pathogen resistance (lymphocyte susceptibility to virus)
Coding,
SNP
Equus caballus
horse - (species)
Intraspecific
Association Mapping
Sarkar S; Bailey E; Go YY ; et al. (2016)
Allelic Variation in CXCL16 Determines CD3+ T Lymphocyte Susceptibility to Equine Arteritis Virus In[...]
GP00001591
CXCL16
F7CTX0
Physiology
4 candidate nonsynonymous substitutions within exon 1(in 2 susceptible variants): (1)c.715A>T p.Tyr40Phe (2)c.801G>C w.Asp49His (3)c.804T>A/G p.Phe50Ile (4)c.810G>A p.Glu52Lys
Equus caballus
horse - (species)
Equus caballus
horse - (species)
CXCL16
Equus caballus
horse - (species)
Published - Accepted by Curator
CYC8
Salt tolerance (experimental evolution)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000195
CYC8
P14922
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
CYC8
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
CYP(T)
Flower morphology (style length)
Coding,
Insertion
N
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001394
CYP734A1
O48786
Morphology
single base insertion in exon 2 introduces a disruptive premature stop codon N
Primula vulgaris
(species)
Primula vulgaris
(species) D
CYP(T)
Primula vulgaris
(species)
Published - Accepted by Curator
CYP(T)
Flower morphology (style length)
Coding,
SNP
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001395
CYP734A1
O48786
Morphology
G>C p.Asp126His in exon 2
Primula vulgaris
(species)
Primula vulgaris
(species) D
CYP(T)
Primula vulgaris
(species)
Published - Accepted by Curator
CYP1A2
Enzymatic activity
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Murayama N; Soyama A; Saito Y ; et al. (2004)
Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring v[...]
GP00000199
CYP1A2
P05177
Physiology
F186L
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
CYP1A2
Homo sapiens
human - (species)
Published - Accepted by Curator
Cyp28d1
Xenobiotic resistance (nicotine ; larval stage)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Chakraborty M; Emerson JJ; Macdonald SJ ; et al. (2019)
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.
GP00002113
Cyp28d1
Q9VMT5
Physiology
insertion of a FW element (4720 bp) into the coding region (exon) of the second copy of the Cyp28d1 (there is still another copy of the gene left due to a duplication). Associated with a decrease in Cyp28d2 gene expression and a decrease in nicotin resistance.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Cyp28d1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CYP2C9
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
1 Additional References
GP00000200
CYP2C9
P11712
Physiology
I359L
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP2C9
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Association Mapping
Joußen N; Agnolet S; Lorenz S ; et al. (2012)
Resistance of Australian Helicoverpa armigera to fenvalerate is due to the chimeric P450 enzyme CYP3[...]
1 Additional References
GP00002477
CYP337B3
A0A0H3V333
Physiology
The unique P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. The exclusive presence of CYP337B3 in resistant insects of this strain confers a 42-fold resistance to fenvalerate.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Rasool Akhtar; Joußen Nicole; Lorenz Sybille ; et al. (2014
)
An independent occurrence of the chimeric P450 enzyme CYP337B3 of Helicoverpa armigera confers cyper[...]
1 Additional References
GP00002478
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. The Pakistani and the Australian CYP337B3 alleles differ by 18 synonymous and three nonsynonymous SNPs and additionally in the length and sequence of the intron.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Han Yangchun; Yu Wanting; Zhang Weiqing ; et al. (2015
)
Variation in P450-mediated fenvalerate resistance levels is not correlated with CYP337B3 genotype in[...]
1 Additional References
GP00002479
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Sequence analysis revealed a distinct CYP337B3 allele (CYP337B3v2) in the Pakistani population and three distinct alleles in the Chinese populations (CYP337B3v2 CYP337B3v3 CYP337B3v4) that differ from the Australian allele (CYP337B3v1) by a number of synonymous and non-synonymous SNPs in addition to variability of the intron sequence and size. This variation may result from different crossing-over positions during recombination of the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-over.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Han Yangchun; Yu Wanting; Zhang Weiqing ; et al. (2015
)
Variation in P450-mediated fenvalerate resistance levels is not correlated with CYP337B3 genotype in[...]
1 Additional References
GP00002480
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Sequence analysis revealed a distinct CYP337B3 allele (CYP337B3v2) in the Pakistani population and three distinct alleles in the Chinese populations (CYP337B3v2 CYP337B3v3 CYP337B3v4) that differ from the Australian allele (CYP337B3v1) by a number of synonymous and non-synonymous SNPs in addition to variability of the intron sequence and size. This variation may result from different crossing-over positions during recombination of the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-over.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Han Yangchun; Yu Wanting; Zhang Weiqing ; et al. (2015
)
Variation in P450-mediated fenvalerate resistance levels is not correlated with CYP337B3 genotype in[...]
1 Additional References
GP00002481
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Sequence analysis revealed a distinct CYP337B3 allele (CYP337B3v2) in the Pakistani population and three distinct alleles in the Chinese populations (CYP337B3v2 CYP337B3v3 CYP337B3v4) that differ from the Australian allele (CYP337B3v1) by a number of synonymous and non-synonymous SNPs in addition to variability of the intron sequence and size. This variation may result from different crossing-over positions during recombination of the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-over.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
GP00002482
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Distinct alleles resulting from different crossing-overs within the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-overs.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
GP00002483
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Distinct alleles resulting from different crossing-overs within the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-overs.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
GP00002484
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Distinct alleles resulting from different crossing-overs within the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-overs.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Insertion
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
1 Additional References
GP00002485
CYP337B3
A0A0H3V333
Physiology
Introgression of the CYP337B3v2 resistant allele from Helicoverpa armigera
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
CYP337B3
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
CYP392A16
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002471
Ace
P07140
Physiology
several non-synonymous SNP - exact causing amino acid change(s) unknown. Functional analysis of the putative promoter region from the resistant and susceptible parental strains revealed a higher reporter gene expression confirming the presence of cis-acting regulatory mechanisms.
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
CYP392A16
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
CYP4F2
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
1 Additional References
GP00000203
CYP4F2
P78329
Physiology
V433M
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP4F2
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP6AB3
Xenobiotic resistance (imperatorin)
Coding,
SNP
Depressaria pastinacella
(species)
Intraspecific
Candidate Gene
Mao W; Rupasinghe SG; Zangerl AR ; et al. (2007)
Allelic variation in the Depressaria pastinacella CYP6AB3 protein enhances metabolism of plant allel[...]
GP00000204
CYP6AB3
Q7YZS3
Physiology
Ala92Val (and potentiallly 4 other a.a. substitutions)
Depressaria pastinacella
(species)
Depressaria pastinacella
(species)
CYP6AB3
Depressaria pastinacella
(species)
Published - Accepted by Curator
CYP6B1
Xenobiotic resistance
Host plant specialization
Coding,
SNP
Papilio polyxenes
black swallowtail - (species)
Interspecific
Candidate Gene
Li W; Schuler MA; Berenbaum MR (2003)
Diversification of furanocoumarin-metabolizing cytochrome P450 monooxygenases in two papilionids: Sp[...]
GP00000205
CYP6B1
Q04552
Physiology
Physiology
Ile484Phe and probably other a.a. substitutions
Nymphalidae
brushfoots - (family)
Papilio polyxenes
black swallowtail - (species)
CYP6B1
Papilio polyxenes
black swallowtail - (species)
Published - Accepted by Curator
CYP6B4
Xenobiotic resistance
Host plant specialization
Coding,
SNP
Papilio glaucus
eastern tiger swallowtail - (species)
Intergeneric or Higher
Candidate Gene
Mao W; Schuler MA; Berenbaum MR (2007)
Cytochrome P450s in Papilio multicaudatus and the transition from oligophagy to polyphagy in the Pap[...]
GP00000206
CYP6B4
Q27902
Physiology
Physiology
Lys484Ser and probably other a.a. substitutions
Nymphalidae
brushfoots - (family)
Papilio glaucus
eastern tiger swallowtail - (species)
CYP6B4
Papilio glaucus
eastern tiger swallowtail - (species)
Published - Accepted by Curator
cyp6d2
Xenobiotic resistance (chemotherapeutic agent, camptothecin)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Thomas AM; Hui C; South A ; et al. (2013)
Common variants of Drosophila melanogaster Cyp6d2 cause camptothecin sensitivity and synergize with [...]
GP00001983
Cyp6g2
Q9V675
Physiology
G>C in CATAGgtaagga...caagCTCT so that intron 3 is not spliced and the codon GCT (spanning the intron) is transformed into CCT. The splicing is defective and intron 3 is transcribed and results in a stop codon and a protein truncated from its native C terminal part.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cyp6d2
Xenobiotic resistance (chemotherapeutic agent, camptothecin)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Thomas AM; Hui C; South A ; et al. (2013)
Common variants of Drosophila melanogaster Cyp6d2 cause camptothecin sensitivity and synergize with [...]
GP00001984
Cyp6g2
Q9V675
Physiology
N438T (A22652974C) and N439T (A22652978G) - exact causing mutation(s) not identified - semiquantitative RT-PCR revealed that this mutant produces little to no Cyp6d2 transcript. The mutation is thus also cis-regulatory.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002472
cyp6er1
A0A2I8B6P1
Physiology
T318S substitution results in a marked (20-fold) and significant increase in resistance compared to the wild-type susceptible variant.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Coding,
Deletion
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002473
cyp6er1
A0A2I8B6P1
Physiology
Deletion of Pro377. This provides a more moderate but significant 4.5-fold increase in resistance.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Coding,
Complex Change
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002474
cyp6er1
A0A2I8B6P1
Physiology
A375del+A376G
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6P9; CYP6P4 cluster
Xenobiotic resistance (insecticide)
5 Mutations:
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Wondji CS; Irving H; Morgan J ; et al. (2009)
Two duplicated P450 genes are associated with pyrethroid resistance in Anopheles funestus, a major m[...]
2 Additional References
GP00000209
Q2YH43
Physiology
5 mutations
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
CYP6P9; CYP6P4 cluster
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
CYP76AD1
Coloration
Coding,
Insertion
N
Beta vulgaris
(species) D
Domesticated
Linkage Mapping
Hatlestad GJ; Sunnadeniya RM; Akhavan NA ; et al. (2012)
The beet R locus encodes a new cytochrome P450 required for red betalain production.
GP00000210
CYP76AD1
I3PFJ5
Morphology
5bp insertion resulting in frameshift N
Beta vulgaris
(species)
Beta vulgaris
(species) D
CYP76AD1
Beta vulgaris
(species)
Published - Accepted by Curator
CYP9A186
Xenobiotic resistance (insecticide; avermectin; emamectin benzoate; abamectin)
Coding,
SNP
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Linkage Mapping
Zuo Y; Shi Y; Zhang F ; et al. (2021)
Genome mapping coupled with CRISPR gene editing reveals a P450 gene confers avermectin resistance in[...]
GP00002393
CYP9A186
A0A8E4AAI2
Physiology
Heterologous expression and in vitro functional assays further confirm that a natural substitution (F116V) found in the substrate recognition site 1 (SRS1) of the CYP9A186 protein results in enhanced metabolism of EB and abamectin
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
CYP9A186
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting; famoxadone)
Coding,
SNP
Plasmopara viticola
(species) D
Intraspecific
Candidate Gene
Chen WJ; Delmotte F; Richard-Cervera S ; et al. (2007)
At least two origins of fungicide resistance in grapevine downy mildew populations.
GP00002041
UQCRFS1
P47985
Physiology
Gly143Ala G1256C
Plasmopara viticola
(species)
Plasmopara viticola
(species) D
cytochrome b
Plasmopara viticola
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting; famoxadone)
Coding,
SNP
Plasmopara viticola
(species) D
Intraspecific
Candidate Gene
Chen WJ; Delmotte F; Richard-Cervera S ; et al. (2007)
At least two origins of fungicide resistance in grapevine downy mildew populations.
GP00002042
UQCRFS1
P47985
Physiology
Gly143Ala G1256C
Plasmopara viticola
(species)
Plasmopara viticola
(species) D
cytochrome b
Plasmopara viticola
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; myxothiazol)
Coding,
SNP
Chlamydomonas reinhardtii
(species) D
Intraspecific
Candidate Gene
Bennoun P; Delosme M; Kück U (1991)
Mitochondrial genetics of Chlamydomonas reinhardtii: resistance mutations marking the cytochrome b g[...]
GP00002043
UQCRFS1
P47985
Physiology
F129L
Chlamydomonas reinhardtii
(species)
Chlamydomonas reinhardtii
(species) D
cytochrome b
Chlamydomonas reinhardtii
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
2 Mutations:
Coding
SNP
Mycena galopus
(species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002044
UQCRFS1
P47985
Physiology
2 mutations
Mycena viridimarginata
(species)
Mycena galopus
(species) D
cytochrome b
Mycena galopus
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
2 Mutations:
Coding
SNP
Strobilurus tenacellus
(species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002045
UQCRFS1
P47985
Physiology
2 mutations
Mycena viridimarginata
(species)
Strobilurus tenacellus
(species) D
cytochrome b
Strobilurus tenacellus
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
Coding,
SNP
Schizosaccharomyces pombe
fission yeast - (species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002046
UQCRFS1
P47985
Physiology
N261D
Saccharomyces cerevisiae
baker's yeast - (species)
Schizosaccharomyces pombe
fission yeast - (species) D
cytochrome b
Schizosaccharomyces pombe
fission yeast - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (insecticide ; bifenazate)
2 Mutations:
Coding
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Interspecific
Candidate Gene
Van Leeuwen T; Vanholme B; Van Pottelberge S ; et al. (2008)
Mitochondrial heteroplasmy and the evolution of insecticide resistance: non-Mendelian inheritance in[...]
GP00002599
UQCRFS1
P47985
Physiology
2 mutations
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
cytochrome b
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (insecticide ; bifenazate)
2 Mutations:
Coding
SNP
Panonychus citri
citrus red mite - (species) D
Interspecific
Candidate Gene
Van Leeuwen T; Van Nieuwenhuyse P; Vanholme B ; et al. (2011)
Parallel evolution of cytochrome b mediated bifenazate resistance in the citrus red mite Panonychus [...]
GP00002600
UQCRFS1
P47985
Physiology
2 mutations
Panonychus citri
citrus red mite - (species)
Panonychus citri
citrus red mite - (species) D
cytochrome b
Panonychus citri
citrus red mite - (species)
Published - Accepted by Curator
cytochrome c oxidase (COX7A)
Fertility
Lifespan
Locomotor activity
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Melvin RG; Katewa SD; Ballard JW (2008)
A candidate complex approach to study functional mitochondrial DNA changes: sequence variation and q[...]
1 Additional References
GP00001980
COX7A
Q9VHS2
Physiology
Physiology
Physiology
Deletion of two amino acids (Trp85 and Val86). The deletion occurs in subunit 7A of the mitochondrial electron trans-port chain protein cytochrome c oxidase (cox7A). The nuclear encoded cox7A gene produces a protein that isimported into the mitochondrion and forms a subunit of complexIV (cytochrome c oxidase) of the electron transport chain.
Drosophila simulans
(species)
Drosophila simulans
(species) D
cytochrome c oxidase (COX7A)
Drosophila simulans
(species)
Published - Accepted by Curator
D14 (KAI2 paralog)
Seed dormancy (strigolactone responsiveness)
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species) D
Intergeneric or Higher
Candidate Gene
Conn CE; Bythell-Douglas R; Neumann D ; et al. (2015)
PLANT EVOLUTION. Convergent evolution of strigolactone perception enabled host detection in parasiti[...]
GP00000213
D14
Q10QA5
Physiology
Ligand-binding pocket tuning
Spermatophyta
(no rank)
Arabidopsis thaliana
thale cress - (species) D
D14 (KAI2 paralog)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
DCAR-032551
Carotenoid content
Coding,
Insertion
N
Daucus carota
carrot - (species) D
Domesticated
Linkage Mapping
Iorizzo M; Ellison S; Senalik D ; et al. (2016)
A high-quality carrot genome assembly provides new insights into carotenoid accumulation and asterid[...]
GP00001568
DCAR_032551
A0A162A3G8
Morphology
A 212-nt insertion in exon 2 that creates a frameshift mutation N
Daucus carota
carrot - (species)
Daucus carota
carrot - (species) D
DCAR-032551
Daucus carota
carrot - (species)
Published - Accepted by Curator
DEEPER ROOTING 1
Drought tolerance
Root growth
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Uga Y; Sugimoto K; Ogawa S ; et al. (2013)
Control of root system architecture by DEEPER ROOTING 1 increases rice yield under drought condition[...]
GP00000215
Dro1
Q69P88
Physiology
Morphology
1bp deletion within exon 4 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
DEEPER ROOTING 1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Delta-1-pyrroline-5-carboxylate synthase A
Drought response (drought-induced proline accumulation)
2 Mutations:
Coding
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kesari R; Lasky JR; Villamor JG ; et al. (2012)
Intron-mediated alternative splicing of Arabidopsis P5CS1 and its association with natural variation[...]
GP00001280
P5CSA
P54887
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Delta-1-pyrroline-5-carboxylate synthase A
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
dentin sialophosphoprotein (DSPP)
Tooth absence (no enamel production)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001936
DSPP
Q9NZW4
Physiology
synteny of the corresponding region - only the N-terminal region of DSPP is present in the genome - 1-bp deletion in exon one leading to a reading frame shift were this sequence to be translated N
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
dentin sialophosphoprotein (DSPP)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
DEP1
Grain yield
Coding,
Indel
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Huang X; Qian Q; Liu Z ; et al. (2009)
Natural variation at the DEP1 locus enhances grain yield in rice.
GP00000218
P0046G12.12-1
Q67UU9
Morphology
replacement of a 637bp stretch of the middle of exon5 by a 12-bp sequence creating a premature stop codon and consequently a loss of 230 residues from the C-terminus N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
DEP1
Oryza sativa
rice - (species)
Published - Accepted by Curator
DEP1 (DENSE AND ERECT PANICLES 1)
Nitrogen use (metabolism)
Coding,
SNP
Oryza sativa Japonica Group
Japanese rice - (no rank)
Domesticated
Linkage Mapping
Sun H; Qian Q; Wu K ; et al. (2014)
Heterotrimeric G proteins regulate nitrogen-use efficiency in rice.
GP00001376
P0046G12.12-1
Q67UU9
Physiology
p.Cys105Tyr affecting affinity interaction between the GGL domain of DEP1 and RGB1 subunit
Oryza sativa Indica Group
long-grained rice - (no rank)
Oryza sativa Japonica Group
Japanese rice - (no rank)
DEP1 (DENSE AND ERECT PANICLES 1)
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
diacylglycerol acyltransferase 1 (DGAT1)
Milk fat content
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Grisart B; Coppieters W; Farnir F ; et al. (2002)
Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the [...]
1 Additional References
GP00000222
Dgat1
Q9Z2A7
Physiology
K232A
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
diacylglycerol acyltransferase 1 (DGAT1)
Bos taurus
cattle - (species)
Published - Accepted by Curator
diacylglycerol acyltransferase 1-2 (DGAT1-2)
Oil composition
Oil yield
Coding,
Deletion
Zea mays
(species) D
Domesticated
Linkage Mapping
Zheng P; Allen WB; Roesler K ; et al. (2008)
A phenylalanine in DGAT is a key determinant of oil content and composition in maize.
GP00000223
DGAT1-2
B0LF77
Physiology
Physiology
Deletion of amino acid F469
Zea mays
(species)
Zea mays
(species) D
diacylglycerol acyltransferase 1-2 (DGAT1-2)
Zea mays
(species)
Published - Accepted by Curator
Dihydroflavonol 4 reductase (MlDfr)
Coloration (flower)
Coding,
Insertion
N
Erythranthe lewisii
(species) D
Intraspecific
Candidate Gene
Wu CA; Streisfeld MA; Nutter LI ; et al. (2013)
The genetic basis of a rare flower color polymorphism in Mimulus lewisii provides insight into the r[...]
GP00001457
DFRA
P51102
Morphology
A 2 nt (TG) insertion at position 265 causing a frameshift and a greatly truncated protein of 106 aa only about one-fourth of its functional length N
Erythranthe lewisii
(species)
Erythranthe lewisii
(species) D
Dihydroflavonol 4 reductase (MlDfr)
Erythranthe lewisii
(species)
Published - Accepted by Curator
dihydroflavonol reductase (DFR)
Coloration (flowers)
Coding,
Deletion
Iochroma calycinum
(species) D
Intraspecific
Candidate Gene
Coburn RA; Griffin RH; Smith SD (2015)
Genetic basis for a rare floral mutant in an Andean species of Solanaceae.
GP00000224
DFRA
P51102
Morphology
33bp (11 a.a) deletion In coding sequence
Iochroma calycinum
(species)
Iochroma calycinum
(species) D
dihydroflavonol reductase (DFR)
Iochroma calycinum
(species)
Published - Accepted by Curator
dihydroflavonol reductase (DFR)
Coloration (flowers)
Coding,
SNP
Iochroma cyaneum
(species)
Intraspecific
Linkage Mapping
Smith SD; Rausher MD (2011)
Gene loss and parallel evolution contribute to species difference in flower color.
GP00000225
DFRA
P51102
Morphology
12 candidate a.a. substitution in cluding one at a residue known to influence substrate specificity
Iochroma cyaneum
(species)
Iochroma cyaneum
(species)
dihydroflavonol reductase (DFR)
Iochroma cyaneum
(species)
Published - Accepted by Curator
dihydroflavonol reductase (DFR)
Coloration (tuber skin)
Coding,
Unknown
Solanum tuberosum
potato - (species)
Domesticated
Linkage Mapping
De Jong WS; De Jong DM; De Jong H ; et al. (2003)
An allele of dihydroflavonol 4-reductase associated with the ability to produce red anthocyanin pigm[...]
1 Additional References
GP00000226
DFRA
P51102
Morphology
unknown; 10 a.a variable positions
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species)
dihydroflavonol reductase (DFR)
Solanum tuberosum
potato - (species)
Published - Accepted by Curator
Diptericin
Pathogen resistance (bacteria)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Unckless RL; Rottschaefer SM; Lazzaro BP (2015)
The complex contributions of genetics and nutrition to immunity in Drosophila melanogaster.
1 Additional References
GP00000227
DptA
P24492
Physiology
Ser>Arg (AGC>AGA)
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Diptericin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Diptericin
Pathogen resistance (bacteria)
Coding,
SNP
Drosophila simulans
(species)
Intraspecific
Candidate Gene
Unckless RL; Howick VM; Lazzaro BP (2016)
Convergent Balancing Selection on an Antimicrobial Peptide in Drosophila.
1 Additional References
GP00000228
DptA
P24492
Physiology
Ser>Arg (AGC>AGG)
Drosophila simulans
(species)
Drosophila simulans
(species)
Diptericin
Drosophila simulans
(species)
Published - Accepted by Curator
Distorter on the X (Dox)
Sex determination (sex ratio distortion)
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Tao Y; Araripe L; Kingan SB ; et al. (2007)
A sex-ratio meiotic drive system in Drosophila simulans. II: an X-linked distorter.
GP00001969
Physiology
Deletion of 105bp, resulting in the loss of exon III, which deletes one of the 42bp elements that is tandemly repeated in wild-type Dsim\Dox.
Drosophila simulans
(species)
Drosophila simulans
(species) D
Distorter on the X (Dox)
Drosophila simulans
(species)
Published - Accepted by Curator
DMRT3
Gait (ability to pace)
Coding,
SNP
N
Equus caballus
horse - (species)
Domesticated
Linkage Mapping
Andersson LS; Larhammar M; Memic F ; et al. (2012)
Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice.
1 Additional References
GP00000230
DMRT3
F6W2R2
Behavior
g.22999655C>A p.S301* Premature stop codon (Ser301Stop) resulting in truncated protein: a single base change at nucleotide position chr23:22999655 causing a premature stop at codon 301 in DMRT3 (DMRT3_Ser301STOP). The allele is expected to encode a truncated protein lacking 1 N
Equus caballus
horse - (species)
Equus caballus
horse - (species)
DMRT3
Equus caballus
horse - (species)
Published - Accepted by Curator
DNA replication factor CDT1
Resistance to UV irradiation
Coding,
SNP
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001507
CDT1
Q9H211
Physiology
p.Ala537Val
Rhinopithecus avunculus
Tonkin snub-nosed monkey - (species)
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
DNA replication factor CDT1
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species)
Rhinopithecus bieti
black snub-nosed monkey - (species)
Published - Accepted by Curator
DNA replication factor CDT1 [[likely pseudo-replicate of other CDT1 entry by introgression]]
Resistance to UV irradiation
Coding,
SNP
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001508
CDT1
Q9H211
Physiology
p.Ala537Val
Rhinopithecus brelichi
Gray snub-nosed monkey - (species)
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
DNA replication factor CDT1 [[likely pseudo-replicate of other CDT1 entry by introgression]]
Rhinopithecus roxellana
golden snub-nosed monkey - (species)
Published - Accepted by Curator
drh-1
Pathogen resistance (viral immunity)
Coding,
Deletion
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Ashe A; Bélicard T; Le Pen J ; et al. (2013)
A deletion polymorphism in the Caenorhabditis elegans RIG-I homolog disables viral RNA dicing and an[...]
GP00001308
drh-1
G5EDI8
Physiology
159 base deletion in CDS resulting in truncated but potentially non-null protein
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
drh-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
DTH2
Flowering time
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Wu W; Zheng XM; Lu G ; et al. (2013)
Association of functional nucleotide polymorphisms at DTH2 with the northward expansion of rice cult[...]
GP00000239
DTH2
O82118
Physiology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
DTH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
Dvl2
Organ size (tail)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Mansour TA; Lucot K; Konopelski SE ; et al. (2018)
Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 [...]
GP00002110
DVL2
O14641
Morphology
single base deletion found on CFA 5(g.32195043_32195044del) that is homozygous in the three screw tail breeds - predicted to lead to a frameshift mutation and cause a premature stop codon that truncates the translated protein by 23 amino acids (p.Pro684LeufsX26) - 26 altered amino acids are predicted to be present in the highly conserved C-terminus of the mutant protein. N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
Dvl2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
dwarf-8 (d8)
Plant size (dwarfism)
Coding,
Deletion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Peng J; Richards DE; Hartley NM ; et al. (1999)
'Green revolution' genes encode mutant gibberellin response modulators.
2 Additional References
GP00000241
D8
Q9ST48
Morphology
330bp deletion to V84 N
Zea mays
(species)
Zea mays
(species) D
dwarf-8 (d8)
Zea mays
(species)
Published - Accepted by Curator
EARLY FLOWERING 3 (here = Mat-a)
Flowering time
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Zakhrabekova S; Gough SP; Braumann I ; et al. (2012)
Induced mutations in circadian clock regulator Mat-a facilitated short-season adaptation and range e[...]
GP00000243
ELF3
O82804
Physiology
4bp deletion resulting in truncated protein ; this deletion seem to have evolved multiple times (fragile site?) N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
EARLY FLOWERING 3 (here = Mat-a)
Hordeum vulgare
(species)
Published - Accepted by Curator
EARLY FLOWERING 3(ELF3)
Flowering time
Coding,
Indel
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Jiménez-Gómez JM; Wallace AD; Maloof JN (2010)
Network analysis identifies ELF3 as a QTL for the shade avoidance response in Arabidopsis.
3 Additional References
GP00000244
ELF3
O82804
Physiology
Background-dependent effects of extensive polyQ coding variation
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
EARLY FLOWERING 3(ELF3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
EARLY FLOWERING 3(ELF3)
Flowering time (latitudinal adaptation)
Coding,
Deletion
N
Glycine max
soybean - (species) D
Domesticated
Linkage Mapping
Lu S; Zhao X; Hu Y ; et al. (2017)
Natural variation at the soybean J locus improves adaptation to the tropics and enhances yield.
GP00001683
CYP75B1
Q9SD85
Physiology
recessive allele responsible for the LJ trait - 10-bp deletion predicted to cause a frameshift resulting in premature termination of translation after 195 amino acids in the 714-amino-acid protein N
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
EARLY FLOWERING 3(ELF3)
Glycine max
soybean - (species)
Published - Accepted by Curator
EARLY FLOWERING 3(ELF3) [possible pseudo-replicate]
Plant growth (hypocotyl elongation ; temperature-dependent)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Raschke A; Ibañez C; Ullrich KK ; et al. (2015)
Natural variants of ELF3 affect thermomorphogenesis by transcriptionally modulating PIF4-dependent a[...]
GP00001245
ELF3
O82804
Morphology
A362V
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
EARLY FLOWERING 3(ELF3) [possible pseudo-replicate]
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
EARLY FLOWERING 3/ EARLY MATURITY 8
Flowering time
Coding,
SNP
N
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Faure S; Turner AS; Gruszka D ; et al. (2012)
Mutation at the circadian clock gene EARLY MATURITY 8 adapts domesticated barley (Hordeum vulgare) t[...]
GP00000245
ELF3
O82804
Physiology
Premature stop codon; C-to-T point mutation in exon 2 N
Hordeum vulgare
(species)
Hordeum vulgare
(species)
EARLY FLOWERING 3/ EARLY MATURITY 8
Hordeum vulgare
(species)
Published - Accepted by Curator
EARLY FLOWERING 3/ EARLYMATURITY8
Flowering time
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Faure S; Turner AS; Gruszka D ; et al. (2012)
Mutation at the circadian clock gene EARLY MATURITY 8 adapts domesticated barley (Hordeum vulgare) t[...]
GP00000246
ELF3
O82804
Physiology
4bp deletion resulting in truncated protein ; this deletion seem to have evolved multiple times (fragile site?) N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
EARLY FLOWERING 3/ EARLYMATURITY8
Hordeum vulgare
(species)
Published - Accepted by Curator
Early flowering1 (EL1)
Flowering time (heading date)
Coding,
SNP
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Linkage Mapping
Kwon CT; Yoo SC; Koo BH ; et al. (2014)
Natural variation in Early flowering1 contributes to early flowering in japonica rice under long day[...]
GP00001636
HD16
Q852L0
Physiology
G476C p.Gly159Ala in the serine/threonine kinase domain leading to non-functional protein
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Early flowering1 (EL1)
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
Early flowering1 (EL1)
Flowering time (heading date)
Coding,
SNP
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Linkage Mapping
Kwon CT; Yoo SC; Koo BH ; et al. (2014)
Natural variation in Early flowering1 contributes to early flowering in japonica rice under long day[...]
GP00001637
HD16
Q852L0
Physiology
G991A p.Ala331Thr in the serine/threonine kinase domain leading to non-functional protein
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Early flowering1 (EL1)
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
Ectodysplasin (EDA)
Scales (loss)
Femoral glands (absent)
Tooth number
Coding,
Insertion
Pogona vitticeps
central bearded dragon - (species) D
Intraspecific
Candidate Gene
Di-Poï N; Milinkovitch MC (2016)
The anatomical placode in reptile scale morphogenesis indicates shared ancestry among skin appendage[...]
GP00002040
Eda
O54693
Morphology
Morphology
Morphology
5′688–bp insertion of a transposon of the LTR-Gypsy family which generates a new splice donor site (gt) 42 bases upstream of the wild-type donor site; thus generating a 14–amino acid deletion in the corresponding transcript
Pogona vitticeps
central bearded dragon - (species)
Pogona vitticeps
central bearded dragon - (species) D
Ectodysplasin (EDA)
Pogona vitticeps
central bearded dragon - (species)
Published - Accepted by Curator
EDAR
Hair thickness
Eccrine gland density
Ear traits = lobe size / lobe attachment / helix rolling / ear protrusion
Tooth morphology (shovel-shaped incisors)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Fujimoto A; Kimura R; Ohashi J ; et al. (2008)
A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickne[...]
4 Additional References
GP00000256
EDAR
Q9UNE0
Morphology
Morphology
Morphology
Morphology
p.Val370Ala; functionally validated in mouse
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EDAR
Homo sapiens
human - (species)
Published - Accepted by Curator
EDAR
Scales (reduced)
Coding,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002359
EDAR
Q9UNE0
Morphology
Several deletions in the EDAR1 coding region. N
Danio rerio
zebrafish - (species)
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
EDAR
Sinocyclocheilus anshuiensis
(species)
Sinocyclocheilus grahami
(species)
Sinocyclocheilus rhinocerous
(species)
Published - Accepted by Curator
EDAR
Scales (reduced)
Coding,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002360
EDAR
Q9UNE0
Morphology; Physiology
Deletion of a large part of the EDAR2 coding region. N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
EDAR
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
3 Additional References
GP00000261
EGLN1
Q9GZT9
Physiology
possibly D4E
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EGLN1
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Panthera uncia
snow leopard - (species) D
Interspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001358
EGLN1
Q9GZT9
Physiology
p.Met39Lys
Panthera
(genus)
Panthera uncia
snow leopard - (species) D
EGLN1
Panthera uncia
snow leopard - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Heterocephalus glaber
naked mole-rat - (species) D
Interspecific
Association Mapping
Kim EB; Fang X; Fushan AA ; et al. (2011)
Genome sequencing reveals insights into physiology and longevity of the naked mole rat.
GP00001759
EGLN1
Q9GZT9
Physiology
unique amino-acid changes in different positions of EGLN1 (Pro15, Arg17 and Arg36)
Rodentia
rodent - (order)
Heterocephalus glaber
naked mole-rat - (species) D
EGLN1
Heterocephalus glaber
naked mole-rat - (species)
Published - Accepted by Curator
Ehd1 (Response regulator)
Flowering time
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Doi K; Izawa T; Fuse T ; et al. (2004)
Ehd1, a B-type response regulator in rice, confers short-day promotion of flowering and controls FT-[...]
GP00000263
EHD1
Q9H4M9
Physiology
G218R in highly conserved region in GARP domain
Oryza glaberrima
African rice - (species)
Oryza sativa
rice - (species)
Ehd1 (Response regulator)
Oryza sativa
rice - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth absence (no enamel production)
Coding,
Deletion
N
Eubalaena glacialis
North Atlantic right whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Eschrichtius robustus
grey whale - (species) D
Caperea marginata
pygmy right whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
1 Additional References
GP00001939
ENAM
Q9NRM1
Physiology
1-bp deletion. Various frameshift mutations were found in the distinct species. N
Cetacea
whales - (order)
Eubalaena glacialis
North Atlantic right whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Eschrichtius robustus
grey whale - (species) D
Caperea marginata
pygmy right whale - (species) D
enamelin (ENAM)
Eubalaena glacialis
North Atlantic right whale - (species)
Megaptera novaeangliae
humpback whale - (species)
Eschrichtius robustus
grey whale - (species)
Caperea marginata
pygmy right whale - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
2 Mutations:
Coding
Deletion
N
Kogia sima
dwarf sperm whale - (species) D
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
1 Additional References
GP00001942
ENAM
Q9NRM1
Physiology
2 mutations
Physeter catodon
sperm whale - (species)
Kogia sima
dwarf sperm whale - (species) D
Kogia breviceps
pygmy sperm whale - (species) D
enamelin (ENAM)
Kogia sima
dwarf sperm whale - (species)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
3 Mutations:
Coding
N
Orycteropus afer
aardvark - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
GP00001943
ENAM
Q9NRM1
Physiology
3 mutations
Elephantulus rufescens
East African long-eared elephant shrew - (species)
Orycteropus afer
aardvark - (species) D
enamelin (ENAM)
Orycteropus afer
aardvark - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
Coding,
Unknown
N
Manis pentadactyla
Chinese pangolin - (species) D
Manis tricuspis
Tree pangolin - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
GP00001944
ENAM
Q9NRM1
Physiology
multiple deletions and insertions less than 9bp causing frameshift N
Canis lupus familiaris
dog - (subspecies)
Manis pentadactyla
Chinese pangolin - (species) D
Manis tricuspis
Tree pangolin - (species) D
enamelin (ENAM)
Manis pentadactyla
Chinese pangolin - (species)
Manis tricuspis
Tree pangolin - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
Coding,
Unknown
N
Bradypus tridactylus
Pale-throated sloth - (species) D
Tamandua tetradactyla
southern tamandua - (species) D
Dasypus novemcinctus
nine-banded armadillo - (species) D
Euphractus sexcinctus
(species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
GP00001945
ENAM
Q9NRM1
Physiology
multiple frameshift insertions and deletions N
Canis lupus familiaris
dog - (subspecies)
Bradypus tridactylus
Pale-throated sloth - (species) D
Tamandua tetradactyla
southern tamandua - (species) D
Dasypus novemcinctus
nine-banded armadillo - (species) D
Euphractus sexcinctus
(species) D
enamelin (ENAM)
Bradypus tridactylus
Pale-throated sloth - (species)
Tamandua tetradactyla
southern tamandua - (species)
Dasypus novemcinctus
nine-banded armadillo - (species)
Euphractus sexcinctus
(species)
Published - Accepted by Curator
enamelysin (MMP20)
Tooth absence (no enamel production)
Coding,
Insertion
N
Balaenoptera physalus
Fin whale - (species) D
Balaena mysticetus
bowhead whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Cheng J ; et al. (2011)
Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]
GP00001940
MMP20
O60882
Physiology
insertion of a CHR-2 SINE retroposon in exon 2 of MMP20 which would result in premature truncation of the MMP20 protein owing to stop codons in all possible reading frames of the CHR-2 SINE. The length of the MMP20 SINE ranges from 302 bp (B. musculus) to 318 bp (B. physalus). This mutation is found in eight investigated species of baleen whales. Other inactivating mutations (nonsense and frameshift mutations) are found in various species N
Physeter catodon
sperm whale - (species)
Balaenoptera physalus
Fin whale - (species) D
Balaena mysticetus
bowhead whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
enamelysin (MMP20)
Balaenoptera physalus
Fin whale - (species)
Balaena mysticetus
bowhead whale - (species)
Megaptera novaeangliae
humpback whale - (species)
Published - Accepted by Curator
enamelysin (MMP20)
Tooth composition (no enamel production)
Coding,
SNP
N
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Cheng J ; et al. (2011)
Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]
GP00001941
MMP20
O60882
Physiology
opal stop codon (TGA) in the propeptide-coding region of MMP20 exon 2 in a single individual of the pygmy sperm whale Kogia breviceps N
Kogia sima
dwarf sperm whale - (species)
Kogia breviceps
pygmy sperm whale - (species) D
enamelysin (MMP20)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000267
END3
P39013
Physiology
Physiology
S258N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000268
END3
P39013
Physiology
Physiology
D268N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Endothelin receptor B
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Metallinos DL; Bowling AT; Rine J (1998)
A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome:[...]
2 Additional References
GP00000269
Ednrb
P48302
Morphology
Ile118Lys
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Endothelin receptor B
Equus caballus
horse - (species)
Published - Accepted by Curator
Endothelin receptor B
Coloration (feathers ; white-spotting)
Coding,
SNP
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Miwa M; Inoue-Murayama M; Aoki H ; et al. (2007)
Endothelin receptor B2 (EDNRB2) is associated with the panda plumage colour mutation in Japanese qua[...]
GP00000270
Ednrb
P48302
Morphology
c.995G>A p.R332H
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Endothelin receptor B
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kinoshita K; Akiyama T; Mizutani M ; et al. (2014)
Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]
GP00001360
EDNRB2
W8VUK4
Morphology
c.1008G>T p.Cys244Phe
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Endothelin receptor B2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kinoshita K; Akiyama T; Mizutani M ; et al. (2014)
Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]
GP00001361
EDNRB2
W8VUK4
Morphology
c.G1272A p.Arg332His
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Endothelin receptor B2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers ; white-spotting)
Coding,
SNP
Anas platyrhynchos
mallard - (species) D
Domesticated
Candidate Gene
Li L; Li D; Liu L ; et al. (2015)
Endothelin Receptor B2 (EDNRB2) Gene Is Associated with Spot Plumage Pattern in Domestic Ducks (Anas[...]
GP00002378
EDNRB2
W8VUK4
Morphology
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
Endothelin receptor B2
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
Enhanced shoot growth under mannitol stress 2 (EGM2)
Plant growth (shoot growth under stress)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Trontin C; Kiani S; Corwin JA ; et al. (2014)
A pair of receptor-like kinases is responsible for natural variation in shoot growth response to man[...]
GP00001630
At1g11300
Q9SXB4
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Enhanced shoot growth under mannitol stress 2 (EGM2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
eosinophil-derived neurotoxin (EDN)
Increase in antiviral ribonuclease activity
Coding,
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Zhang J; Rosenberg HF (2002)
Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates.
GP00000272
RNASE2
P10153
Physiology
Arg64Ser
Primates
(order)
Catarrhini
(parvorder)
eosinophil-derived neurotoxin (EDN)
Catarrhini
(parvorder)
Published - Accepted by Curator
eosinophil-derived neurotoxin (EDN)
Increase in antiviral ribonuclease activity
Coding,
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Zhang J; Rosenberg HF (2002)
Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates.
GP00000273
RNASE2
P10153
Physiology
Thr132Arg
Primates
(order)
Catarrhini
(parvorder)
eosinophil-derived neurotoxin (EDN)
Catarrhini
(parvorder)
Published - Accepted by Curator
EPAS1
Hypoxia response
Coding,
SNP
Panthera uncia
snow leopard - (species) D
Interspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001357
EPAS1
Q99814
Physiology
two species-specific amino acid changes: Val663Ile and Cys794Arg - whether both or only one is affecting the phenotype is unknown
Panthera
(genus)
Panthera uncia
snow leopard - (species) D
EPAS1
Panthera uncia
snow leopard - (species)
Published - Accepted by Curator
EPAS1
Hypoxia response
Coding,
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Association Mapping
Schweizer RM; Velotta JP; Ivy CM ; et al. (2019)
Physiological and genomic evidence that selection on the transcription factor Epas1 has altered card[...]
GP00002062
EPAS1
Q99814
Physiology
non-synonymous polymorphism located at site 755 in the 14th exon that changes threonine to methionine Thr755Met
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
EPAS1
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
EphB2
Feathers (crest morphology)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Shapiro MD; Kronenberg Z; Li C ; et al. (2013)
Genomic diversity and evolution of the head crest in the rock pigeon.
1 Additional References
GP00000275
EPHB2
P28693
Morphology
Arg758Cys (C>T) p.R758C
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
EphB2
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
EphB2
Feathers (crest morphology)
Coding,
SNP
Streptopelia risoria
ringneck dove - (species) D
Domesticated
Candidate Gene
Vickrey AI; Domyan ET; Horvath MP ; et al. (2015)
Convergent Evolution of Head Crests in Two Domesticated Columbids Is Associated with Different Misse[...]
GP00000276
EPHB2
P28693
Morphology
Gly636Arg (G>A)
Streptopelia risoria
ringneck dove - (species)
Streptopelia risoria
ringneck dove - (species) D
EphB2
Streptopelia risoria
ringneck dove - (species)
Published - Accepted by Curator
Epithiospecifier protein (ESP)
Plant secondary metabolite (glucosinolate)
Herbivore resistance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Lambrix V; Reichelt M; Mitchell-Olds T ; et al. (2001)
The Arabidopsis epithiospecifier protein promotes the hydrolysis of glucosinolates to nitriles and i[...]
GP00000279
ESP
Q8RY71
Physiology
Physiology
deletion of 124 bases that eliminates a splice site and 100 nucleotides of the ORF N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Epithiospecifier protein (ESP)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Eleusine indica
goosegrass - (species) D
Intraspecific
Candidate Gene
Baerson SR; Rodriguez DJ; Tran M ; et al. (2002)
Glyphosate-resistant goosegrass. Identification of a mutation in the target enzyme 5-enolpyruvylshik[...]
GP00001888
At2g45300
P05466
Physiology
Pro106Ser leading to 2-4-fold resistance
Eleusine indica
goosegrass - (species)
Eleusine indica
goosegrass - (species) D
EPSPS
Eleusine indica
goosegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001889
At2g45300
P05466
Physiology
Pro106Ser leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001890
At2g45300
P05466
Physiology
Pro106Leu leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001891
At2g45300
P05466
Physiology
Pro106Thr leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Candidate Gene
Bell Michael S; Hager Aaron G; Tranel Patrick J (2013
)
Multiple resistance to herbicides from four site-of-action groups in waterhemp (Amaranthus tubercula[...]
GP00001892
At2g45300
P05466
Physiology
resistance not due to EPSPS amplification; partly due to P106S mutation
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
EPSPS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Jasieniuk Marie; Ahmad Riaz; Sherwood Anna M ; et al. (2008
)
Glyphosate-resistant Italian ryegrass (Lolium multiflorum) in California: distribution, response to [...]
GP00001896
At2g45300
P05466
Physiology
Pro106Ser
Lolium multiflorum
Italian ryegrass - (species)
Lolium multiflorum
Italian ryegrass - (species) D
EPSPS
Lolium multiflorum
Italian ryegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Jasieniuk Marie; Ahmad Riaz; Sherwood Anna M ; et al. (2008
)
Glyphosate-resistant Italian ryegrass (Lolium multiflorum) in California: distribution, response to [...]
GP00001897
At2g45300
P05466
Physiology
Pro106Ala conferring 5-15-fold resistance
Lolium multiflorum
Italian ryegrass - (species)
Lolium multiflorum
Italian ryegrass - (species) D
EPSPS
Lolium multiflorum
Italian ryegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Eleusine indica
goosegrass - (species) D
Intraspecific
Candidate Gene
Ng CH; Wickneswari R; Salmijah S ; et al. (2003
)
Gene polymorphisms in glyphosate‐resistant and‐susceptible biotypes of Eleusine indica from Malaysia[...]
GP00001898
At2g45300
P05466
Physiology
Pro106Thr leading to 3-fold resistance
Eleusine indica
goosegrass - (species)
Eleusine indica
goosegrass - (species) D
EPSPS
Eleusine indica
goosegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Digitaria insularis
(species) D
Intraspecific
Candidate Gene
de Carvalho LB; Alves PL; González-Torralva F ; et al. (2012)
Pool of resistance mechanisms to glyphosate in Digitaria insularis.
GP00001899
At2g45300
P05466
Physiology
Pro106Thr
Digitaria insularis
(species)
Digitaria insularis
(species) D
EPSPS
Digitaria insularis
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Kaundun SS; Dale RP; Zelaya IA ; et al. (2011)
A novel P106L mutation in EPSPS and an unknown mechanism(s) act additively to confer resistance to g[...]
GP00001900
At2g45300
P05466
Physiology
Pro106Leu conferring a 1.7-fold resistance increase to glyphosate at the whole plant level
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Bostamam Yazid; Malone Jenna M; Dolman Fleur C ; et al. (2012
)
Rigid ryegrass (Lolium rigidum) populations containing a target site mutation in EPSPS and reduced g[...]
GP00001901
At2g45300
P05466
Physiology
Pro106Ser
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Bostamam Yazid; Malone Jenna M; Dolman Fleur C ; et al. (2012
)
Rigid ryegrass (Lolium rigidum) populations containing a target site mutation in EPSPS and reduced g[...]
GP00001902
At2g45300
P05466
Physiology
Pro106Thr
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Yu Q; Cairns A; Powles S (2007)
Glyphosate, paraquat and ACCase multiple herbicide resistance evolved in a Lolium rigidum biotype.
GP00001903
At2g45300
P05466
Physiology
Pro106Ala
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000281
ERG11
P10613
Physiology
Y132H
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000282
ERG11
P10613
Physiology
S405F
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000283
ERG11
P10613
Physiology
G464S
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000284
ERG11
P10613
Physiology
R467K
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
Indel
Candida albicans
(species)
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00000285
ERG11
P10613
Physiology
Copy number Variant
Candida albicans
(species)
Candida albicans
(species)
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000286
ERG3
P32353
Physiology
Arg63Stop A187T in line 21 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001744
ERG3
P32353
Physiology
Ser76Stop C227A in line 22 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001745
ERG3
P32353
Physiology
Ser95Stop C284A in line 23 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001746
ERG3
P32353
Physiology
Trp205Stop G615A in line 24 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001747
ERG3
P32353
Physiology
Trp205Stop G615A in line 25 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001748
ERG3
P32353
Physiology
Trp205Stop G615A in line 26 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001749
ERG3
P32353
Physiology
Trp205Stop G615A in line 27 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001750
ERG3
P32353
Physiology
29-bp duplication in line 28 at nucleotide position 641 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001751
ERG3
P32353
Physiology
Trp219Stop G656A in line 29 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001752
ERG3
P32353
Physiology
Gly235Ser G703A in line 30 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001753
ERG3
P32353
Physiology
Tyr299Stop C897A in line 31 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001754
ERG3
P32353
Physiology
Gly300Arg G898C in line 32 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001755
ERG3
P32353
Physiology
Asp307Ala A920C in line 33 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001756
ERG3
P32353
Physiology
1-bp deletion in line 34
A980- N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001757
ERG3
P32353
Physiology
60-bp deletion at position 253 in line 35 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG5
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000287
ERG5
P54781
Physiology
60bp deletion N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG6
Xenobiotic resistance (drug)
Coding,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000288
erg6
O14321
Physiology
7 unique mutations in ERG6 within a total 19 lines ; 4 of these mutations evolved multiple times
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
ERG6
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG7
Xenobiotic resistance (drug)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000289
ERG7
P38604
Physiology
Phe699Leu
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG7
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Newcomb RD; Campbell PM; Ollis DL ; et al. (1997)
A single amino acid substitution converts a carboxylesterase to an organophosphorus hydrolase and co[...]
GP00000294
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Jackson CJ; Liu JW; Carr PD ; et al. (2013)
Structure and function of an insect α-carboxylesterase (αEsterase7) associated with insecticide resi[...]
GP00000295
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species)
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000296
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species)
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000297
LcaE7
Q25252
Physiology
Trp251Ser
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000298
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Cochliomyia hominivorax
primary screw-worm - (species) D
Intraspecific
Candidate Gene
da Silva NM; de Carvalho RA; de Azeredo-Espin AM (2011)
Acetylcholinesterase cDNA sequencing and identification of mutations associated with organophosphate[...]
2 Additional References
GP00002584
alphaE7
A0A0G3Z837
Physiology
G137D
Cochliomyia hominivorax
primary screw-worm - (species)
Cochliomyia hominivorax
primary screw-worm - (species) D
esterase isozyme E3
Cochliomyia hominivorax
primary screw-worm - (species)
Published - Accepted by Curator
esterase isozyme E7 = E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Claudianos C; Russell RJ; Oakeshott JG (1999)
The same amino acid substitution in orthologous esterases confers organophosphate resistance on the [...]
GP00000299
LcaE7
Q25252
Physiology
Gly137Asp
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
esterase isozyme E7 = E3
Musca domestica
house fly - (species)
Published - Accepted by Curator
ETC2
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Hilscher J; Schlötterer C; Hauser MT (2009)
A single amino acid replacement in ETC2 shapes trichome patterning in natural Arabidopsis population[...]
GP00001237
ETC2
Q84RD1
Morphology
K19E
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ETC2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FAAH
Anxiety (fear reduction)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Dincheva I; Drysdale AT; Hartley CA ; et al. (2015)
FAAH genetic variation enhances fronto-amygdala function in mouse and human.
GP00000301
Faah
P97612
Behavior
Pro129Thr (C385A; common variant rs324420)
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FAAH
Homo sapiens
human - (species)
Published - Accepted by Curator
FAD2 (BnaA.FAD2.a)
Oil composition
Oil yield
Coding,
Insertion
N
Brassica napus
rape - (species) D
Domesticated
Linkage Mapping
Yang Q; Fan C; Guo Z ; et al. (2012)
Identification of FAD2 and FAD3 genes in Brassica napus genome and development of allele-specific ma[...]
GP00000302
FAD2
P46313
Physiology
Physiology
4bp insertion resulting in frameshift and premature stop codon N
Brassica napus
rape - (species)
Brassica napus
rape - (species) D
FAD2 (BnaA.FAD2.a)
Brassica napus
rape - (species)
Published - Accepted by Curator
FAD2A
Oil composition (oleate levels)
Coding,
SNP
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Jung S; Powell G; Moore K ; et al. (2000)
The high oleate trait in the cultivated peanut [Arachis hypogaea L]. II. Molecular basis and genetic[...]
GP00002075
FAD2A
E2GJC1
Physiology
D150N in a residue that is absolutely conserved among other desaturases N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2A
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
FAD2B
Oil composition (oleate levels)
Coding,
Insertion
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Patel M; Jung S; Moore K ; et al. (2004)
High-oleate peanut mutants result from a MITE insertion into the FAD2 gene.
GP00002073
FAD2B
Q9LKK6
Physiology
insertion of 205-bp miniature inverted-repeat transposable element (MITE) called ahMITE1 at position 665 near the center of the coding region in the case of MF; which causes a frameshift N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2B
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
FAD2B
Oil composition (oleate levels)
Coding,
Insertion
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Patel M; Jung S; Moore K ; et al. (2004)
High-oleate peanut mutants result from a MITE insertion into the FAD2 gene.
GP00002074
FAD2B
Q9LKK6
Physiology
insertion of 205-bp miniature inverted-repeat transposable element (MITE) called ahMITE1 at position 997 of the coding region; which causes a frameshift N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2B
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
FAR (pheromone gland FAR)
Pheromone production (isomeric/chirality divergence)
Coding,
Unknown
Ostrinia nubilalis
European corn borer - (species)
Intraspecific
Linkage Mapping
Lassance JM; Groot AT; Liénard MA ; et al. (2010)
Allelic variation in a fatty-acyl reductase gene causes divergence in moth sex pheromones.
2 Additional References
GP00000304
pgFAR
D3U9W3
Physiology
Candidate a.a. substitutions with effect validated in vitro
Ostrinia nubilalis
European corn borer - (species)
Ostrinia nubilalis
European corn borer - (species)
FAR (pheromone gland FAR)
Ostrinia nubilalis
European corn borer - (species)
Published - Accepted by Curator
ferredoxin
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001530
PF3D7_1318100
Q8IED5
Physiology
p.Asp193Tyr
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
ferredoxin
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
FGF20
Organ loss (feathers ; scales)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Wells KL; Hadad Y; Ben-Avraham D ; et al. (2012)
Genome-wide SNP scan of pooled DNA reveals nonsense mutation in FGF20 in the scaleless line of feath[...]
GP00002171
FGF20
Q9NP95
Morphology
g.62878803A>T c.535A>T p.R179* N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
FGF20
Gallus gallus
chicken - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000310
Fgf5
P15656
Morphology
Cys95Phe
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length (length)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007)
Mutations within the FGF5 gene are associated with hair length in cats.
1 Additional References
GP00000311
Fgf5
P15656
Morphology
c.474delT resulting in frameshift N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
FGF5
Felis catus
domestic cat - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
N
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Legrand R; Tiret L; Abitbol M (2014)
Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.
GP00001369
Fgf5
P15656
Morphology
c.433_434delAT frameshift deletion leading to a stop codon at position 159 N
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
FGF5
Equus asinus
ass - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Legrand R; Tiret L; Abitbol M (2014)
Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.
GP00001370
Fgf5
P15656
Morphology
c.245G>A p.W82* nonsense mutation leading to stop codon at position 82 N
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
FGF5
Equus asinus
ass - (species)
Published - Accepted by Curator
FGF5
Hair length (length)
Coding,
Insertion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007)
Mutations within the FGF5 gene are associated with hair length in cats.
1 Additional References
GP00002172
Fgf5
P15656
Morphology
c.ins356T resulting in frameshift N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
FGF5
Felis catus
domestic cat - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
N
Mesocricetus auratus
golden hamster - (species) D
Domesticated
Candidate Gene
Yoshizawa Y; Wada K; Shimoi G ; et al. (2015)
A 1-bp deletion in Fgf5 causes male-dominant long hair in the Syrian hamster.
GP00002173
Fgf5
P15656
Morphology
c.546delG p.Arg184GlyfsX6 N
Mesocricetus auratus
golden hamster - (species)
Mesocricetus auratus
golden hamster - (species) D
FGF5
Mesocricetus auratus
golden hamster - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dierks C; Mömke S; Philipp U ; et al. (2013)
Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
1 Additional References
GP00002174
Fgf5
P15656
Morphology
g.4528639C>T c.578C>T p.A193V
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dierks C; Mömke S; Philipp U ; et al. (2013)
Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
1 Additional References
GP00002175
Fgf5
P15656
Morphology
g.8193T>A splice site
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dierks C; Mömke S; Philipp U ; et al. (2013)
Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
1 Additional References
GP00002176
Fgf5
P15656
Morphology
c.559_560dupGG p.R188Afs*73
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dierks C; Mömke S; Philipp U ; et al. (2013)
Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
1 Additional References
GP00002177
Fgf5
P15656
Morphology
c.556_571del16 p.A186Tfs*69
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Cavia porcellus
domestic guinea pig - (species) D
Domesticated
Candidate Gene
Yu F; Liu Z; Jiao S ; et al. (2018)
A nonsense mutation in the FGF5 gene is associated with the long-haired phenotype in domestic guinea[...]
GP00002178
Fgf5
P15656
Morphology
c.403C>T p.Arg135* N
Cavia porcellus
domestic guinea pig - (species)
Cavia porcellus
domestic guinea pig - (species) D
FGF5
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Indel
N
Lama glama
llama - (species) D
Domesticated
Candidate Gene
Daverio MS; Vidal-Rioja L; Frank EN ; et al. (2017)
Molecular characterization of the llama FGF5 gene and identification of putative loss of function mu[...]
GP00002179
Fgf5
P15656
Morphology
a single base deletion (c.348delA) + a 12-bp insertion (c.351_352insCATATAACATAG) N
Lama guanicoe
guanaco - (species)
Lama glama
llama - (species) D
FGF5
Lama glama
llama - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Lama glama
llama - (species) D
Vicugna pacos
alpaca - (species) D
Domesticated
Candidate Gene
Daverio MS; Vidal-Rioja L; Frank EN ; et al. (2017)
Molecular characterization of the llama FGF5 gene and identification of putative loss of function mu[...]
2 Additional References
GP00002180
Fgf5
P15656
Morphology
transition C>T at position 499 downstream of the ATG codon with transcriptional readthrough ; difference in post-transcriptional readthrough may underlie the different fleece types of the alpaca suri and huacaya breeds ; derived allele was introgressed from lamas to alpacas N
Lama guanicoe
guanaco - (species)
Lama glama
llama - (species) D
Vicugna pacos
alpaca - (species) D
FGF5
Lama glama
llama - (species)
Vicugna pacos
alpaca - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
N
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Hébert JM; Rosenquist T; Götz J ; et al. (1994)
FGF5 as a regulator of the hair growth cycle: evidence from targeted and spontaneous mutations.
1 Additional References
GP00002441
Fgf5
P15656
Morphology
Deletion which extends at least 2kb upstream of the Fgf5 translational start site and terminates at the end of the first exon or beginning of the first intron. N
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
FGF5
Mus musculus
house mouse - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
N
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Mizuno S; Iijima S; Okano T ; et al. (2011)
Retrotransposon-mediated Fgf5(go-Utr) mutant mice with long pelage hair.
GP00002442
Fgf5
P15656
Morphology
Deletion of a 9.3-kb region in the Fgf5 gene including exon 3 and its 5' and 3' flanking sequences. The genomic deletion site also shows insertion of a 498-bp early transposon element long terminal repeat. N
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
FGF5
Mus musculus
house mouse - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Housley DJ; Venta PJ (2006)
The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability.
GP00002443
Fgf5
P15656
Morphology
Presence of a duplication in a relatively non-conserved region of the gene and a missense mutation resulting in the substitution of Phe for Cys in a highly conserved region. Genotyping of 218 dogs from three breeds fixed for long hair; eight breeds fixed for short hair and five breeds in which long hair is segregating provided evidence that the missense mutation is associated with the hair-length differences among these breeds.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Fgfr1a1
Scales (loss)
Coding,
Deletion
N
Cyprinus carpio
common carp - (species) D
Domesticated
Candidate Gene
Rohner N; Bercsényi M; Orbán L ; et al. (2009)
Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.
GP00000312
fgfr1a
Q90Z00
Morphology
deletion of 310 bp N
Cyprinus carpio
common carp - (species)
Cyprinus carpio
common carp - (species) D
Fgfr1a1
Cyprinus carpio
common carp - (species)
Published - Accepted by Curator
Fgfr1a1
Scales (loss)
Coding,
SNP
Cyprinus carpio
common carp - (species) D
Domesticated
Candidate Gene
Rohner N; Bercsényi M; Orbán L ; et al. (2009)
Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.
GP00000313
fgfr1a
Q90Z00
Morphology
Glu664Lys
Cyprinus carpio
common carp - (species)
Cyprinus carpio
common carp - (species) D
Fgfr1a1
Cyprinus carpio
common carp - (species)
Published - Accepted by Curator
FGFR3
Body size (bone length)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Beever JE; Smit MA; Meyers SN ; et al. (2006)
A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodyspla[...]
1 Additional References
GP00002184
FGFR3
P22607
Morphology
c.1719T>A p.V700E
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
FGFR3
Ovis aries
sheep - (species)
Published - Accepted by Curator
fibrinogen-related protein 1 (FREP1)
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001465
3290292
Q5TWN1
Physiology
c.T1325A p.Q442L
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
fibrinogen-related protein 1 (FREP1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
fibrinogen-related protein 30 (FBN30)
Pathogen resistance (parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001464
1270165
Q7QIK0
Physiology
c.T28C p.F10L
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
fibrinogen-related protein 30 (FBN30)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Deletion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000315
CYP75B1
Q9SD85
Morphology
-1bp at +973 resulting in premature stop codon N
Glycine max
soybean - (species)
Glycine soja
(species) D
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Deletion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000316
CYP75B1
Q9SD85
Morphology
-1bp at +1164 resulting in premature stop codon N
Glycine max
soybean - (species)
Glycine soja
(species) D
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Indel
Glycine soja
(species)
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000317
CYP75B1
Q9SD85
Morphology
a single base insertion of an adenine at position 965 as well as a single base deletion of adenine at position 973 resulting in N322K and Q324T - exact causing mutation(s) unknown
Glycine max
soybean - (species)
Glycine soja
(species)
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Zufall RA; Rausher MD (2003 Nov-Dec)
The genetic basis of a flower color polymorphism in the common morning glory (Ipomoea purpurea).
3 Additional References
GP00000319
CYP75B1
Q9SD85
Morphology
insertion of the 0.55-kb DNA transposable element Tip201 belonging to the Ac/Ds superfamily. No excision of Tip201 from the F3'H gene could be detected. Both splicing and polyadenylation patterns of the F3'H transcripts were affected by the Tip201 integration. N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
flavonoid 3'-hydroxylase (F3'H)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (seed; pods)
Coding,
Deletion
N
Glycine max
soybean - (species) D
Domesticated
Linkage Mapping
Toda K; Yang D; Yamanaka N ; et al. (2002)
A single-base deletion in soybean flavonoid 3'-hydroxylase gene is associated with gray pubescence c[...]
1 Additional References
GP00000321
CYP75B1
Q9SD85
Morphology
1bp deletion resulting in frameshift N
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
flavonoid 3'-hydroxylase (F3'H)
Glycine max
soybean - (species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers)
Coding,
SNP
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Hoshino A; Morita Y; Choi JD ; et al. (2003)
Spontaneous mutations of the flavonoid 3'-hydroxylase gene conferring reddish flowers in the three m[...]
GP00002087
CYP75B1
Q9SD85
Morphology
nonsense mutation caused by a single C to T base transition generating the stop codon TGA. N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
flavonoid 3'-hydroxylase (F3'H)
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers)
Coding,
Insertion
N
Ipomoea tricolor
(species) D
Domesticated
Candidate Gene
Hoshino A; Morita Y; Choi JD ; et al. (2003)
Spontaneous mutations of the flavonoid 3'-hydroxylase gene conferring reddish flowers in the three m[...]
GP00002088
CYP75B1
Q9SD85
Morphology
a single T insertion generating the stop codon TAG. The accumulation of the F3'H transcripts is drastically reduced by the nonsense-mediated RNA decay. N
Ipomoea tricolor
(species)
Ipomoea tricolor
(species) D
flavonoid 3'-hydroxylase (F3'H)
Ipomoea tricolor
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers; pubescence; seeds)
Coding,
Insertion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000322
CYP75A2
P37120
Morphology
53bp insertion at +1352 N
Glycine max
soybean - (species)
Glycine soja
(species) D
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
SNP
Glycine soja
(species)
Intraspecific
Linkage Mapping
Takahashi R; Dubouzet JG; Matsumura H ; et al. (2010)
A new allele of flower color gene W1 encoding flavonoid 3'5'-hydroxylase is responsible for light pu[...]
GP00000323
CYP75A2
P37120
Morphology
V210M (uncertain); no expression level differences detected
Glycine soja
(species)
Glycine soja
(species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
SNP
Pisum sativum
pea - (species)
Domesticated
Candidate Gene
Moreau C; Ambrose MJ; Turner L ; et al. (2012)
The B gene of pea encodes a defective flavonoid 3',5'-hydroxylase, and confers pink flower color.
GP00000326
CYP75A2
P37120
Morphology
G111E
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Pisum sativum
pea - (species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
Deletion
N
Pisum sativum
pea - (species) D
Domesticated
Linkage Mapping
Moreau C; Ambrose MJ; Turner L ; et al. (2012)
The B gene of pea encodes a defective flavonoid 3',5'-hydroxylase, and confers pink flower color.
GP00000327
CYP75A2
P37120
Morphology
23bp deletion reuslting in frameshift and truncated protein N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species) D
flavonoid 3';5'-hydroxylase (F3'5'H)
Pisum sativum
pea - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000330
FLC
Q9S7Q7
Physiology
Substitution creating premature Stop (codon 158) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000335
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Capsella rubella
(species)
Intraspecific
Linkage Mapping
Guo YL; Todesco M; Hagmann J ; et al. (2012)
Independent FLC mutations as causes of flowering-time variation in Arabidopsis thaliana and Capsella[...]
GP00000337
FLC
Q9S7Q7
Physiology
Splice site mutation introducing frameshift; removing the last 35 of 198 amino acids
Capsella rubella
(species)
Capsella rubella
(species)
FLC (Flowering Locus C)
Capsella rubella
(species)
Published - Accepted by Curator
FLC-1
Flowering time
Coding,
SNP
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Yuan YX; Wu J; Sun RF ; et al. (2009)
A naturally occurring splicing site mutation in the Brassica rapa FLC1 gene is associated with varia[...]
GP00000338
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
FLC-1
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
FLC-2
Flowering time
Coding,
Deletion
N
Brassica oleracea
wild cabbage - (species) D
Domesticated
Linkage Mapping
Okazaki K; Sakamoto K; Kikuchi R ; et al. (2007)
Mapping and characterization of FLC homologs and QTL analysis of flowering time in Brassica oleracea[...]
GP00000339
FLC
Q9S7Q7
Physiology
1bp deletion resulting in frameshift N
Brassica oleracea
wild cabbage - (species)
Brassica oleracea
wild cabbage - (species) D
FLC-2
Brassica oleracea
wild cabbage - (species)
Published - Accepted by Curator
Flowering locus T (FT1)
Flowering time
Coding,
Deletion
N
Helianthus annuus
common sunflower - (species) D
Domesticated
Linkage Mapping
Blackman BK; Strasburg JL; Raduski AR ; et al. (2010)
The role of recently derived FT paralogs in sunflower domestication.
GP00000346
FT
Q9SXZ2
Physiology
1bp deletion; frameshift N
Helianthus annuus
common sunflower - (species)
Helianthus annuus
common sunflower - (species) D
Flowering locus T (FT1)
Helianthus annuus
common sunflower - (species)
Published - Accepted by Curator
FOXI3
Hair (hypotrichosis)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Drögemüller C; Karlsson EK; Hytönen MK ; et al. (2008)
A mutation in hairless dogs implicates FOXI3 in ectodermal development.
GP00000351
FOXI3
B5RHS5
Morphology
Frameshift; 7-bp duplication within exon 1 N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FOXI3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FoxP2
Gene expression change (transcriptional targets)
Coding,
SNP
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Konopka G; Bomar JM; Winden K ; et al. (2009)
Human-specific transcriptional regulation of CNS development genes by FOXP2.
1 Additional References
GP00000353
FOXP2
O15409
Behavior
2 aa changes (T303N and N325S) resulting in changes of the regulated transcriptional targets in a human neuron cell line. Speculatively; these changes could be associated with language skills but these connections with null-mutant phenotypes are dubious - whether one or both mutations are required is unknown
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
FoxP2
Homo sapiens
human - (species)
Published - Accepted by Curator
FPN2
Metal tolerance
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Morrissey J; Baxter IR; Lee J ; et al. (2009)
The ferroportin metal efflux proteins function in iron and cobalt homeostasis in Arabidopsis.
GP00000354
IREG2
F4KGN5
Physiology
1bp insertion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FPN2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Metal tolerance
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Pineau C; Loubet S; Lefoulon C ; et al. (2012)
Natural variation at the FRD3 MATE transporter locus reveals cross-talk between Fe homeostasis and Z[...]
GP00000355
DTX43
Q9SFB0
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Johanson U; West J; Lister C ; et al. (2000)
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering tim[...]
GP00000357
FRI
P0DH90
Physiology
16bp deletion aa313-318 in exon 2 and premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Indel
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Johanson U; West J; Lister C ; et al. (2000)
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering tim[...]
1 Additional References
GP00000358
FRI
P0DH90
Physiology
376 bp deletion and 31 bp insertion that delete amino acid 1-15 and at best produce a 45-aa protein N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Indel
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000359
FRI
P0DH90
Physiology
Del 2257-2355 in exon 3; deletion of 99 bp combined with an insertion of 61 bp N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000360
FRI
P0DH90
Physiology
1bp deletion at 1487 in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000361
FRI
P0DH90
Physiology
1bp insertion at 766 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
1 Additional References
GP00000362
FRI
P0DH90
Physiology
Insertion 1 bp at 1454 in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000363
FRI
P0DH90
Physiology
Trp240* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000364
FRI
P0DH90
Physiology
Glu361* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Gazzani S; Gendall AR; Lister C ; et al. (2003)
Analysis of the molecular basis of flowering time variation in Arabidopsis accessions.
GP00000365
FRI
P0DH90
Physiology
K232* in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000366
FRI
P0DH90
Physiology
deletion; E430* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000367
FRI
P0DH90
Physiology
deletion of 6 amino acids; LQLDKE422-427*
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000368
FRI
P0DH90
Physiology
deletion aa 1-12
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000369
FRI
P0DH90
Physiology
deletion resulting in S121* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000370
FRI
P0DH90
Physiology
deletion; AF375-6* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000371
FRI
P0DH90
Physiology
insertion; I490* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000372
FRI
P0DH90
Physiology
insertion; T258* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000373
FRI
P0DH90
Physiology
Y162* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000374
FRI
P0DH90
Physiology
K170* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida like 1 (FRL1)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Schläppi MR (2006)
FRIGIDA LIKE 2 is a functional allele in Landsberg erecta and compensates for a nonsense allele of F[...]
GP00000376
FRL1
Q9FFF1
Physiology
E279* in the middle of the conceptual protein sequence N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida like 1 (FRL1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida like 2 (FRL2)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Schläppi MR (2006)
FRIGIDA LIKE 2 is a functional allele in Landsberg erecta and compensates for a nonsense allele of F[...]
GP00000377
FRL2
Q9C6S2
Physiology
A132P and/or L401Q
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida like 2 (FRL2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000379
FUT2
Q10981
Physiology
9.3 kb deletion mediated by recombination between Alu sequences N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
2 Additional References
GP00000380
FUT2
Q10981
Physiology
10 kb deletion mediated by recombination between Alu sequences N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000381
FUT2
Q10981
Physiology
premature stop at codon 143: TGG>TGA N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000382
FUT2
Q10981
Physiology
Ile129Phe
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
GCNF (NR6A1)
Vertebrae number
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Mikawa S; Morozumi T; Shimanuki S ; et al. (2007)
Fine mapping of a swine quantitative trait locus for number of vertebrae and analysis of an orphan n[...]
GP00000386
Nr6a1
Q64249
Morphology
Pro192Leu
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
GCNF (NR6A1)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Silva BD; Castro EA; Souza CJ ; et al. (2011)
A new polymorphism in the Growth and Differentiation Factor 9 (GDF9) gene is associated with increas[...]
GP00000390
GDF9
O60383
Physiology
F345C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Nicol L; Bishop SC; Pong-Wong R ; et al. (2009)
Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility i[...]
GP00000391
GDF9
O60383
Physiology
g.41841117A>C c.1279A>C p.S427R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Våge DI; Husdal M; Kent MP ; et al. (2013)
A missense mutation in growth differentiation factor 9 (GDF9) is strongly associated with litter siz[...]
1 Additional References
GP00002186
GDF9
O60383
Physiology
g.41841285G>A c.1111G>A p.V371M
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002187
GDF9
O60383
Physiology
g.41841212C>T c.1184C>T p.S395F
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Souza CJ; McNeilly AS; Benavides MV ; et al. (2014)
Mutation in the protease cleavage site of GDF9 increases ovulation rate and litter size in heterozyg[...]
GP00002188
GDF9
O60383
Physiology
g.41841453C>T c.943C>T p.R315C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
Ge-1
Pathogen resistance (sigma virus)
Coding,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Cao C; Magwire MM; Bayer F ; et al. (2016)
A Polymorphism in the Processing Body Component Ge-1 Controls Resistance to a Naturally Occurring Rh[...]
GP00001993
Ge-1
Q9VKK1
Physiology
78bp deletion ( 2L:11097925 ..11098002 in both Release 5 and Release 6 coordinates) in the fifth exon of Ge-1 which reduces the length of the serine-rich linker region by 26 amino acid residues
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Ge-1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
GH
Body size (dwarfism)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
McCormack BL; Chase CC; Olson TA ; et al. (2009)
A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the g[...]
GP00002037
GH1
P01241
Morphology
g.48768780C>T c.593C>T p.T198M
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
GH
Bos taurus
cattle - (species)
Published - Accepted by Curator
GIGANTEA
Photoperiod response
Circadian rhythm
Coding,
SNP
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Xie Q; Lou P; Hermand V ; et al. (2015)
Allelic polymorphism of GIGANTEA is responsible for naturally occurring variation in circadian perio[...]
GP00000396
GI
Q9SQI2
Physiology
Physiology
Ser264Ala
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
GIGANTEA
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
GL3.1
Grain size
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Qi P; Lin YS; Song XJ ; et al. (2012)
The novel quantitative trait locus GL3.1 controls rice grain size and yield by regulating Cyclin-T1;[...]
GP00000397
GL3
Q9FN69
Morphology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GL3.1
Oryza sativa
rice - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001239
GL1
P27900
Morphology
S92F
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001240
GL1
P27900
Morphology
+1bp at position 352 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001241
GL1
P27900
Morphology
-1bp at position 203 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
glb-5
CO2 avoidance
Aggregation behavior
Coding,
Indel
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
McGrath PT; Rockman MV; Zimmer M ; et al. (2009)
Quantitative mapping of a digenic behavioral trait implicates globin variation in C. elegans sensory[...]
2 Additional References
GP00000399
glb-5
A3RMS5
Behavior
Behavior
765bp insertion/duplication resulting in a truncation of the last 179 amino acids of the protein and the inclusion of 40 different residues N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
glb-5
Caenorhabditis elegans
(species)
Published - Accepted by Curator
GLC-1
Xenobiotic resistance (antihelmintics)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Ghosh R; Andersen EC; Shapiro JA ; et al. (2012)
Natural variation in a chloride channel subunit confers avermectin resistance in C. elegans.
GP00000400
glc-1
G5EBR3
Physiology
4aa deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
GLC-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
GLO(T)
Flower morphology (anther elevation)
Coding,
Insertion
N
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001393
GLO
Q03378
Morphology
A 2.5 kb retrotransposon in exon 2 severely truncates the protein N
Primula vulgaris
(species)
Primula vulgaris
(species) D
GLO(T)
Primula vulgaris
(species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000401
G6PD
P11413
Physiology
Ser188Phe C>T
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Louicharoen C; Patin E; Paul R ; et al. (2009)
Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.
GP00000402
G6PD
P11413
Physiology
Ser163Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000403
G6PD
P11413
Physiology
Val68Met G>A at nucleotide position 376 in exon 5 - OMIM code +305900.0002
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-dependent insulinotropic polypeptide
Glycemia
Adipolysis rate
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Chang CL; Cai JJ; Lo C ; et al. (2011)
Adaptive selection of an incretin gene in Eurasian populations.
GP00000404
GIP
P09681
Physiology
Physiology
Ser103Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-dependent insulinotropic polypeptide
Homo sapiens
human - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; abamectin)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Dermauw W; Ilias A; Riga M ; et al. (2012)
The cys-loop ligand-gated ion channel gene family of Tetranychus urticae: implications for acaricide[...]
GP00002601
GluClalpha
Q94900
Physiology
G326E inTu_GluCl3
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
glutamate-gated chloride channel (GluCl)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; nodulisporic acid)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Kane NS; Hirschberg B; Qian S ; et al. (2000)
Drug-resistant Drosophila indicate glutamate-gated chloride channels are targets for the antiparasit[...]
GP00002602
GluClalpha
Q94900
Physiology
P299S
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glutamate-gated chloride channel (GluCl)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; ivermectin)
Coding,
SNP
Cooperia oncophora
(species) D
Intraspecific
Candidate Gene
Njue AI; Hayashi J; Kinne L ; et al. (2004)
Mutations in the extracellular domains of glutamate-gated chloride channel alpha3 and beta subunits [...]
GP00002603
GluClalpha
Q94900
Physiology
E114G V235A L256F in the GluCla3 ortholog and V60A R101Hin the GluClb ortholog.
Cooperia oncophora
(species)
Cooperia oncophora
(species) D
glutamate-gated chloride channel (GluCl)
Cooperia oncophora
(species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; ivermectin)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Kwon DH; Yoon KS; Clark JM ; et al. (2010)
A point mutation in a glutamate-gated chloride channel confers abamectin resistance in the two-spott[...]
1 Additional References
GP00002604
GluClalpha
Q94900
Physiology
G323D in the highly conserved TM2 region of Tu_GluCl
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
glutamate-gated chloride channel (GluCl)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; abamectin)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Wang X; Wang R; Yang Y ; et al. (2016)
A point mutation in the glutamate-gated chloride channel of Plutella xylostella is associated with r[...]
GP00002634
GluClalpha
Q94900
Physiology
A309V
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
glutamate-gated chloride channel (GluCl)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
GmHs1-1 (Glyma02g43700.1)
Seed hardness
Seed coat permeability
Coding,
SNP
Glycine max
soybean - (species) D
Domesticated
Linkage Mapping
Sun L; Miao Z; Cai C ; et al. (2015)
GmHs1-1, encoding a calcineurin-like protein, controls hard-seededness in soybean.
GP00001543
Hs1
I1JIK2
Physiology
Physiology
C>T p.Thr>Met predicted to affect the alpha-helix of the protein
Glycine soja
(species)
Glycine max
soybean - (species) D
GmHs1-1 (Glyma02g43700.1)
Glycine max
soybean - (species)
Published - Accepted by Curator
GPA1
Pheromone response
Cell elongation
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Yvert G; Brem RB; Whittle J ; et al. (2003)
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors.
1 Additional References
GP00000410
GPA1
P08539
Physiology
Physiology
Ser469Ile
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
GPA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Insertion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001669
GPRC6A
Q5T6X5
Physiology
insertion of KL (6 bp) resulting in sequence KGKKLY in the third intracellular loop (ICL3) with surface expression and function greatly reduced
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Deletion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001670
GPRC6A
Q5T6X5
Physiology
KGRKLP>KGRK-Y in the third intracellular loop (ICL3) with surface expression and function greatly reduced
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001671
GPRC6A
Q5T6X5
Physiology
KGRKLP>KGK--Y in the third intracellular loop (ICL3) responsible for the intracellular retention and lack of function N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001672
GPRC6A
Q5T6X5
Physiology
C>T (aa57) located in the first exon resulting in a premature Stop-codon and non-functional protein N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
Gr5a
Taste sensitivity (sugar; trehalose)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Ueno K; Ohta M; Morita H ; et al. (2001)
Trehalose sensitivity in Drosophila correlates with mutations in and expression of the gustatory rec[...]
2 Additional References
GP00001997
Gr5a
Q9W497
Physiology
Nucleotide change: A5681571G - Amino acid change: T218A
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Gr5a
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Green-sensitive opsin (RH2)
Color vision (blue shift)
Coding,
SNP
Thunnus orientalis
Pacific bluefin tuna - (species) D
Intergeneric or Higher
Candidate Gene
Nakamura Y; Mori K; Saitoh K ; et al. (2013)
Evolutionary changes of multiple visual pigment genes in the complete genome of Pacific bluefin tuna[...]
GP00001469
opn1mw1
Q9W6A5
Physiology
p.E122Q (G>C) in four of five genes
Percomorphaceae
(no rank)
Thunnus orientalis
Pacific bluefin tuna - (species) D
Green-sensitive opsin (RH2)
Thunnus orientalis
Pacific bluefin tuna - (species)
Published - Accepted by Curator
Growth Hormone Receptor
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Viitala S; Szyda J; Blott S ; et al. (2006)
The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...]
1 Additional References
GP00000416
Ghr
P16882
Physiology
Phe279Tyr
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
Growth Hormone Receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
Growth Hormone Receptor (GHR)
Body size (height)
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015)
Height-reducing variants and selection for short stature in Sardinia.
GP00000415
GHR
P10912
Morphology
Arg61* N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Growth Hormone Receptor (GHR)
Homo sapiens
human - (species)
Published - Accepted by Curator
growth hormone receptor (GHR)
Body size (weight)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001475
GHR
Q9TU69
Morphology
G>A in exon 5 p.E191K in extracellular domain
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
growth hormone receptor (GHR)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
growth hormone receptor (GHR)
Body size (weight)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001476
GHR
Q9TU69
Morphology
C>T in exon 5 p.P177L in extracellular domain
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
growth hormone receptor (GHR)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Growth Hormone Receptor (GHR)
Body size (dwarfism)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Agarwal SK; Cogburn LA; Burnside J (1994)
Dysfunctional growth hormone receptor in a strain of sex-linked dwarf chicken: evidence for a mutati[...]
GP00002189
GHR
P10912
Morphology
deletion of 1773 bp in the 3' end of the coding region N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Growth Hormone Receptor (GHR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
GS3
Grain size
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Fan C; Xing Y; Mao H ; et al. (2006)
GS3, a major QTL for grain length and weight and minor QTL for grain width and thickness in rice, en[...]
1 Additional References
GP00000417
GS3
C6L686
Morphology
C55*;TGC>TGA causing a 178-aa truncation in the C-terminus of the predicted protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GS3
Oryza sativa
rice - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Anopheles funestus
African malaria mosquito - (species)
Intraspecific
Candidate Gene
Riveron JM; Yunta C; Ibrahim SS ; et al. (2014)
A single mutation in the GSTe2 gene allows tracking of metabolically based insecticide resistance in[...]
GP00002455
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species)
GSTe
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Spodoptera litura
(species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002456
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Spodoptera litura
(species)
Spodoptera litura
(species)
GSTe
Spodoptera litura
(species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Spodoptera frugiperda
fall armyworm - (species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002457
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species)
GSTe
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Spodoptera exigua
beet armyworm - (species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002458
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species)
GSTe
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Spodoptera littoralis
African cotton leafworm - (species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002459
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Spodoptera littoralis
African cotton leafworm - (species)
Spodoptera littoralis
African cotton leafworm - (species)
GSTe
Spodoptera littoralis
African cotton leafworm - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Anopheles funestus
African malaria mosquito - (species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002460
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species)
GSTe
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000420
Gulo
P58710
Physiology
pseudogenization involving invalidating mutations at most exons N
Mammalia
mammals - (class)
Cavia porcellus
domestic guinea pig - (species)
Gulo
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Myotis lucifugus
little brown bat - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000421
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Myotis lucifugus
little brown bat - (species)
Gulo
Myotis lucifugus
little brown bat - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Primates
(order)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000422
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Primates
(order)
Gulo
Primates
(order)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Pteropus vampyrus
large flying fox - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000423
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Pteropus vampyrus
large flying fox - (species)
Gulo
Pteropus vampyrus
large flying fox - (species)
Published - Accepted by Curator
GW2
Grain size
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Song XJ; Huang W; Shi M ; et al. (2007)
A QTL for rice grain width and weight encodes a previously unknown RING-type E3 ubiquitin ligase.
GP00000424
GW2
A4GWX9
Morphology
1bp deletion resulting in a premature stop codon in exon 4; the premature stop codon led to truncation of 310 amino acid residues N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
GW2
Oryza sativa
rice - (species)
Published - Accepted by Curator
GW2
Grain size
Coding,
Insertion
N
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Yang Z; Bai Z; Li X ; et al. (2012)
SNP identification and allelic-specific PCR markers development for TaGW2, a gene linked to wheat ke[...]
GP00000425
GW2
A4GWX9
Morphology
1bp insertion resulting in premature stop codon N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
GW2
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000426
ABCA2
A0A0S0G7V0
Physiology
Pro53* (161T>A) N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Xu X; Yu L; Wu Y (2005)
Disruption of a cadherin gene associated with resistance to Cry1Ac {delta}-endotoxin of Bacillus thu[...]
2 Additional References
GP00000427
ABCA2
A0A0S0G7V0
Physiology
10kb deletion N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Yang Y; Chen H; Wu S ; et al. (2006)
Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]
1 Additional References
GP00000428
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Yang Y; Chen H; Wu S ; et al. (2006)
Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]
1 Additional References
GP00000429
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000430
ABCA2
A0A0S0G7V0
Physiology
Insertion of an incomplete RNA transposon (1498bp) N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000431
ABCA2
A0A0S0G7V0
Physiology
Insertion of a DNA transposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000432
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000433
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
HAC1 (=ATQ1)
Xenobiotic resistance (soil contamination; arsenate)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Chen Y; Chen J ; et al. (2014)
Genome-wide association mapping identifies a new arsenate reductase enzyme critical for limiting ars[...]
GP00000435
HAC1
Q9C5X9
Physiology
1bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HAC1 (=ATQ1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Doi K; Izawa T; Fuse T ; et al. (2004)
Ehd1, a B-type response regulator in rice, confers short-day promotion of flowering and controls FT-[...]
GP00000439
HD1
Q9FDX8
Physiology
Retro-element-like inserted in exon 2 N
Oryza glaberrima
African rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Yano M; Katayose Y; Ashikari M ; et al. (2000)
Hd1, a major photoperiod sensitivity quantitative trait locus in rice, is closely related to the Ara[...]
1 Additional References
GP00000441
HD1
Q9FDX8
Physiology
2bp deletion in the putative exon 2 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Takahashi Y; Teshima KM; Yokoi S ; et al. (2009)
Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]
GP00001722
HD1
Q9FDX8
Physiology
1bp deletion at position 606 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Takahashi Y; Teshima KM; Yokoi S ; et al. (2009)
Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]
GP00001723
HD1
Q9FDX8
Physiology
1bp deletion at position 321 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Takahashi Y; Teshima KM; Yokoi S ; et al. (2009)
Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]
GP00001724
HD1
Q9FDX8
Physiology
4bp deletion at position 1089 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Takahashi Y; Teshima KM; Yokoi S ; et al. (2009)
Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]
GP00001725
HD1
Q9FDX8
Physiology
C to T – stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd6a
Flowering time
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Takahashi Y; Shomura A; Sasaki T ; et al. (2001)
Hd6, a rice quantitative trait locus involved in photoperiod sensitivity, encodes the alpha subunit [...]
GP00000442
HD6
Q9AR27
Physiology
K91*; AAG>TAG N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Hd6a
Oryza sativa
rice - (species)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
Deletion
N
Sorghum virgatum
(species) D
Domesticated
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001408
CO
Q39057
Physiology
5bp deletion in the coding sequence leading to gene frameshift N
Sorghum bicolor
sorghum - (species)
Sorghum virgatum
(species) D
Heading Date 1 (HD1)
Sorghum virgatum
(species)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
Deletion
N
Sorghum
(genus) D
Interspecific
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001409
CO
Q39057
Physiology
80bp deletion in first exon leading to gene frameshift N
Sorghum
(genus)
Sorghum
(genus) D
Heading Date 1 (HD1)
Sorghum
(genus)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
SNP
N
Setaria italica
foxtail millet - (species) D
Domesticated
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001410
CO
Q39057
Physiology
splicing variant at position 787 GT>AT resulting in a splicing shift to position 754 introducing a deletion of 33 bp in the transcript and 11 aa in the protein N
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Heading Date 1 (HD1)
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000443
HMA3
P0CW78
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000444
HMA3
P0CW78
Physiology
1-bp deletion resulting in a premature stop codon resulting in hypofunctional transporter. This is a high-frequency allele; suggesting the hyper-functional alleles are only selected in Cd-rich soils N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ueno D; Yamaji N; Kono I ; et al. (2010)
Gene limiting cadmium accumulation in rice.
GP00000445
HMA3
P0CW78
Physiology
H80R
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
heavy metal atpase3 (HMA3)
Oryza sativa
rice - (species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000450
HMA5
Q9SH30
Physiology
P626L
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000451
HMA5
Q9SH30
Physiology
N923T
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000452
hecw-1
G5EEJ0
Behavior
Y322C
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000453
hecw-1
G5EEJ0
Behavior
Q325P
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
hemoglobin; HBA
Hypoxia response
Coding,
SNP
Lama
(genus)
Interspecific
Candidate Gene
Kleinschmidt T; März J; Jürgens KD ; et al. (1986)
Interaction of allosteric effectors with alpha-globin chains and high altitude respiration of mammal[...]
GP00000454
HBA1
P69905
Physiology
Asp122His
Mammalia
mammals - (class)
Lama
(genus)
hemoglobin; HBA
Lama
(genus)
Published - Accepted by Curator
hemoglobin; HBA and HBB
Hypoxia response
Coding,
SNP
Crocodylus niloticus
Nile crocodile - (species)
Intergeneric or Higher
Candidate Gene
Komiyama NH; Miyazaki G; Tame J ; et al. (1995)
Transplanting a unique allosteric effect from crocodile into human haemoglobin.
GP00000455
HBA1
P69905
Physiology
No more than 12 amino acid substitutions required for providing crocodile-like properties in engineered human Hb - effect of single amino acid changes not tested
Homo sapiens
human - (species)
Crocodylus niloticus
Nile crocodile - (species)
hemoglobin; HBA and HBB
Crocodylus niloticus
Nile crocodile - (species)
Published - Accepted by Curator
hemoglobin; HBA-T1 and T2 paralogues
Hypoxia response
5 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Sabatino SJ; Hoffmann FG ; et al. (2007)
The molecular basis of high-altitude adaptation in deer mice.
2 Additional References
GP00000456
HBA1
P69905
Physiology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBA-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000457
HBA1
P69905
Physiology
Asn9Ser
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
hemoglobin; HBA2
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000458
HBA1
P69905
Physiology
Ala77Thr
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000459
HBAD
P02001
Physiology
Ser130Phe
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000460
HBA1
P69905
Physiology
Ala77Thr
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000461
HBAD
P02001
Physiology
Val96Ala
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anser indicus
bar-headed goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
2 Additional References
GP00000462
HBA1
P69905
Physiology
Pro119Ala
Anser anser
domestic goose - (species)
Anser indicus
bar-headed goose - (species) D
hemoglobin; HBA2
Anser indicus
bar-headed goose - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000463
HBA1
P69905
Physiology
Ala5Thr
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBA2
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Merganetta armata
(species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000464
HBA1
P69905
Physiology
Ala77Thr
Merganetta armata
(species)
Merganetta armata
(species) D
hemoglobin; HBA2
Merganetta armata
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
2 Mutations:
Coding
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000465
HBAD
P02001
Physiology
2 mutations
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBA2
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Jallow M; Teo YY; Small KS ; et al. (2009)
Genome-wide and fine-resolution association analysis of malaria in West Africa.
GP00000466
HBB
P68871
Physiology
Glu6Val
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
hemoglobin; HBB
Homo sapiens
human - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000467
HBB
P68871
Physiology
2 mutations
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBB
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas georgica
yellow-billed pintail - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000468
HBB
P68871
Physiology
2 mutations
Anas georgica
yellow-billed pintail - (species)
Anas georgica
yellow-billed pintail - (species) D
hemoglobin; HBB
Anas georgica
yellow-billed pintail - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000469
HBB
P68871
Physiology
2 mutations
Anas
ducks - (genus)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Lophonetta specularioides
crested duck - (species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000470
HBB
P68871
Physiology
2 mutations
Anatidae
waterfowl - (family)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000471
HBB
P68871
Physiology
Asp94Glu
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000472
HBB
P68871
Physiology
Asp94Glu
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
2 Additional References
GP00000473
HBB
P68871
Physiology
Leu55Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000474
HBB
P68871
Physiology
Ala86Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
3 Mutations:
Coding
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000475
HBA1
P69905
Physiology
3 mutations
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB-T1 and T2 paralogues
Hypoxia response
4 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Runck AM; Sabatino SJ ; et al. (2009)
Evolutionary and functional insights into the mechanism underlying high-altitude adaptation of deer [...]
1 Additional References
GP00000476
HBB
P68871
Physiology
4 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBB-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBB/HBD fusion gene
Temperature tolerance (cold)
3 Mutations:
Coding
SNP
Mammuthus primigenius
woolly mammoth - (species)
Intergeneric or Higher
Candidate Gene
Campbell KL; Roberts JE; Watson LN ; et al. (2010)
Substitutions in woolly mammoth hemoglobin confer biochemical properties adaptive for cold tolerance[...]
GP00000477
HBB
P68871
Physiology
3 mutations
Elephantidae
elephants - (family)
Mammuthus primigenius
woolly mammoth - (species)
hemoglobin; HBB/HBD fusion gene
Mammuthus primigenius
woolly mammoth - (species)
Published - Accepted by Curator
HES7
Organ size (tail; short)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Lyons LA; Creighton EK; Alhaddad H ; et al. (2016)
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentatio[...]
1 Additional References
GP00002190
HES7
Q9BYE0
Morphology
g.2819475A>G c.5A>G p.V2A
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
HES7
Felis catus
domestic cat - (species)
Published - Accepted by Curator
HM1 = HC toxin reductase (HCTR) [possible pseudo-replicate from other Maize entry]
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Johal GS; Briggs SP (1992)
Reductase activity encoded by the HM1 disease resistance gene in maize.
1 Additional References
GP00000481
hm1
O49163
Physiology
256-bp transposable element insertion in exon 4 N
Zea mays
(species)
Zea mays
(species) D
HM1 = HC toxin reductase (HCTR) [possible pseudo-replicate from other Maize entry]
Zea mays
(species)
Published - Accepted by Curator
HM2 = HC toxin reductase (HCTR)
Pathogen resistance
Coding,
Deletion
N
Zea mays
(species) D
Domesticated
Candidate Gene
Chintamanani S; Multani DS; Ruess H ; et al. (2008)
Distinct mechanisms govern the dosage-dependent and developmentally regulated resistance conferred b[...]
GP00000482
hm2
B8QWA3
Physiology
deletion from exon 2 (nucleotide 420) to beyond the confines of the hm2 gene into an unknown genomic region. N
Zea mays
(species)
Zea mays
(species) D
HM2 = HC toxin reductase (HCTR)
Zea mays
(species)
Published - Accepted by Curator
HM2 = HC toxin reductase (HCTR)
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Candidate Gene
Chintamanani S; Multani DS; Ruess H ; et al. (2008)
Distinct mechanisms govern the dosage-dependent and developmentally regulated resistance conferred b[...]
GP00000483
hm2
B8QWA3
Physiology
8-bp insertion in exon 1 that disrupt the reading frame and introduces a stop codon shortly after the beginning of the gene N
Zea mays
(species)
Zea mays
(species) D
HM2 = HC toxin reductase (HCTR)
Zea mays
(species)
Published - Accepted by Curator
HMGA2
Body size (dwarfism)
Cranio-facial morphology
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Association Mapping
Carneiro M; Hu D; Archer J ; et al. (2017)
Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA[...]
GP00001675
HMGA2
P52926
Morphology
Morphology
deletion of 12.1 kb overlapping the promoter region and first three exons leading to inactivation of the gene. The 5'-end of this deletion overlaps a CSINE2 element N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
HMGA2
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
HP1D2
Sex determination (sex ratio distortion)
Coding,
Deletion
N
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Helleu Q; Gérard PR; Dubruille R ; et al. (2016)
Rapid evolution of a Y-chromosome heterochromatin protein underlies sex chromosome meiotic drive.
GP00001467
HP1D2
B4R6K0
Physiology
deletion of 371bp that removes one-half (371bp) of the HP1D2 coding sequence resulting in a frameshift that prevents the translation of the C-terminal chromo shadow domain (CSD) mediating protein N
Drosophila simulans
(species)
Drosophila simulans
(species) D
HP1D2
Drosophila simulans
(species)
Published - Accepted by Curator
Hps4
Coloration (albinism)
Coding,
Deletion
N
Ictalurus punctatus
channel catfish - (species) D
Intraspecific
Association Mapping
Li Y; Geng X; Bao L ; et al. (2017)
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in [...]
GP00002122
Hps4
Q99KG7
Morphology
A 99‐bp deletion was identified spanning intron 2 and exon 3 junction of the Hps4 gene N
Ictalurus punctatus
channel catfish - (species)
Ictalurus punctatus
channel catfish - (species) D
Hps4
Ictalurus punctatus
channel catfish - (species)
Published - Accepted by Curator
HUA2
Flowering time
Shoot morphology
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Wang Q; Sajja U; Rosloski S ; et al. (2007)
HUA2 caused natural variation in shoot morphology of A. thaliana.
GP00000491
HUA2
Q9XER9
Physiology
Morphology
K525E N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HUA2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HUA2
Flowering time
Coloration (temperature-dependent)
Coding,
Unknown
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ilk N; Ding J; Ihnatowicz A ; et al. (2015)
Natural variation for anthocyanin accumulation under high-light and low-temperature stress is attrib[...]
1 Additional References
GP00001230
HUA2
Q9XER9
Physiology
Morphology
Premature stop codon resulting in truncation of 290 C-terminal amino-acids (hua-2-5 Ler allele) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
HUA2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Human Leukocyte Antigen-B (HLA-B)
Pathogen resistance (HIV control)
5 Mutations:
Coding
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
; Pereyra F; Jia X ; et al. (2010)
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
GP00000492
HLA-B
P01889
Physiology
5 mutations
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Human Leukocyte Antigen-B (HLA-B)
Homo sapiens
human - (species)
Published - Accepted by Curator
HvbHLH1
Coloration
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Association Mapping
Cockram J; White J; Zuluaga DL ; et al. (2010)
Genome-wide association mapping to candidate polymorphism resolution in the unsequenced barley genom[...]
GP00000493
bHLH1
E5FCX3
Morphology
16bp deletion resulting in premature stop codon N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
HvbHLH1
Hordeum vulgare
(species)
Published - Accepted by Curator
ICARUS1
Plant growth (leaf morphology ; temperature-dependent)
Hypersensitive to DNA damage
2 Mutations:
Coding
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Zhu W; Ausin I; Seleznev A ; et al. (2015)
Natural Variation Identifies ICARUS1, a Universal Gene Required for Cell Proliferation and Growth at[...]
GP00002066
ICA1
A0A0F7PXK5
Physiology
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
ICARUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
IME1
Sporulation efficiency
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00000498
IME1
P21190
Physiology
L325M and/or 1bp synonymous substitution
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
IME1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Inhibitor of DNA binding 3 (id3)
Lifespan
Coding,
Deletion
Nothobranchius pienaari
(species) D
Interspecific
Association Mapping
Reichwald K; Petzold A; Koch P ; et al. (2015)
Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish.
GP00001677
ID3
Q02535
Physiology
One evolutionarily conserved aa (E) is deleted in id3 C-terminus
Nothobranchius rachovii
bluefin notho - (species)
Nothobranchius pienaari
(species) D
Inhibitor of DNA binding 3 (id3)
Nothobranchius pienaari
(species)
Published - Accepted by Curator
InR
Fertility
Developmental time
Body size
Stress response
Lifespan
Coding,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Paaby AB; Bergland AO; Behrman EL ; et al. (2014)
A highly pleiotropic amino acid polymorphism in the Drosophila insulin receptor contributes to life-[...]
1 Additional References
GP00002663
InR
P09208
Morphology
Morphology; Physiology
Physiology
Physiology
Physiology
Deletion of 9 nucleotides in the first exon. The two alleles differ by presence/absence of the three amino acids QHH.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
InR
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Insulin-like growth factor receptor 1 (IGF1R)
Body size (weight)
Coding,
SNP
Homo sapiens
human - (species) D
Domesticated
Candidate Gene
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001479
IGF1R
P08069
Morphology
G>A p.R204H in exon 2
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
Insulin-like growth factor receptor 1 (IGF1R)
Homo sapiens
human - (species)
Published - Accepted by Curator
Ir75a
Olfaction
Coding,
SNP
Drosophila sechellia
(species) D
Interspecific
Candidate Gene
Prieto-Godino LL; Rytz R; Bargeton B ; et al. (2016)
Olfactory receptor pseudo-pseudogenes.
GP00001701
Ir75a
Q9VVL1
Physiology
T289S and/or Q536K and/or F538L - introduction of these three amino acid changes in the D. melanogaster protein is sufficient to confer response indistinguishable from the one of D. sechellia
Drosophila melanogaster
fruit fly - (species)
Drosophila sechellia
(species) D
Ir75a
Drosophila sechellia
(species)
Published - Accepted by Curator
Ir75b
Olfaction
Oviposition site preference
Coding,
SNP
Drosophila sechellia
(species) D
Interspecific
Candidate Gene
Prieto-Godino LL; Rytz R; Cruchet S ; et al. (2017)
Evolution of Acid-Sensing Olfactory Circuits in Drosophilids.
2 Additional References
GP00001702
Ir75b
B7Z069
Physiology
Behavior; Physiology
T523S in the LBD domain - caused by C1568G
Drosophila melanogaster
fruit fly - (species)
Drosophila sechellia
(species) D
Ir75b
Drosophila sechellia
(species)
Published - Accepted by Curator
IRA1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001709
IRA1
P18963
Physiology
Arg1583Lys (G>A at position 521875 according to Table 1) - AGR to AAR position 521875
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
IRA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
IRA2
Growth rate (environment-dependent)
Coding,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Smith EN; Kruglyak L (2008)
Gene-environment interaction in yeast gene expression.
GP00000505
IRA2
P19158
Physiology
unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
IRA2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Isocitrate dehydrogenase (NADP) (IDH)
Temperature tolerance (temperature range)
2 Mutations:
Coding
SNP
Mytilus trossulus
common blue mussel - (species)
Interspecific
Candidate Gene
Lockwood BL; Somero GN (2012)
Functional determinants of temperature adaptation in enzymes of cold- versus warm-adapted mussels (G[...]
GP00000506
I1VYX2
Physiology
2 mutations
Mytilus galloprovincialis
Mediterranean mussel - (species)
Mytilus trossulus
common blue mussel - (species)
Isocitrate dehydrogenase (NADP) (IDH)
Mytilus trossulus
common blue mussel - (species)
Published - Accepted by Curator
KAI2 paralogs
Seed dormancy (strigolactone responsiveness)
Coding,
Unknown
Orobancheae
(tribe) D
Intergeneric or Higher
Candidate Gene
Conn CE; Bythell-Douglas R; Neumann D ; et al. (2015)
PLANT EVOLUTION. Convergent evolution of strigolactone perception enabled host detection in parasiti[...]
GP00000509
D14
Q10QA5
Physiology
Ligand-binding pocket tuning in duplicated gene
Orobanchaceae
(family)
Orobancheae
(tribe) D
KAI2 paralogs
Orobancheae
(tribe)
Published - Accepted by Curator
KCS18
Oil composition
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Jasinski S; Lécureuil A; Miquel M ; et al. (2012)
Natural variation in seed very long chain fatty acid content is controlled by a new isoform of KCS18[...]
GP00000512
FAE1
Q38860
Physiology
L407V N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
KCS18
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001510
PF3D7_1343700
Q8IDQ2
Physiology
D353Y affecting the BTB/POZ domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001511
PF3D7_1343700
Q8IDQ2
Physiology
P441L affecting the BTB/POZ domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001512
PF3D7_1343700
Q8IDQ2
Physiology
F446I affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001513
PF3D7_1343700
Q8IDQ2
Physiology
G449A affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001514
PF3D7_1343700
Q8IDQ2
Physiology
N458Y affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001515
PF3D7_1343700
Q8IDQ2
Physiology
A481V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001516
PF3D7_1343700
Q8IDQ2
Physiology
p.Tyr493His affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001517
PF3D7_1343700
Q8IDQ2
Physiology
N525D affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001518
PF3D7_1343700
Q8IDQ2
Physiology
N537I affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001519
PF3D7_1343700
Q8IDQ2
Physiology
p.Arg539Thr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001520
PF3D7_1343700
Q8IDQ2
Physiology
p.Ile543Thr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001521
PF3D7_1343700
Q8IDQ2
Physiology
p.Pro553Leu affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001522
PF3D7_1343700
Q8IDQ2
Physiology
R561H affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001523
PF3D7_1343700
Q8IDQ2
Physiology
V568G affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001524
PF3D7_1343700
Q8IDQ2
Physiology
P574L affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001525
PF3D7_1343700
Q8IDQ2
Physiology
p.Cys580Tyr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001526
PF3D7_1343700
Q8IDQ2
Physiology
D584V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001527
PF3D7_1343700
Q8IDQ2
Physiology
F673I affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001528
PF3D7_1343700
Q8IDQ2
Physiology
A675V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001529
PF3D7_1343700
Q8IDQ2
Physiology
H719N affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13 (K13)
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Candidate Gene
Straimer J; Gnädig NF; Witkowski B ; et al. (2015)
Drug resistance. K13-propeller mutations confer artemisinin resistance in Plasmodium falciparum clin[...]
GP00001388
PF13_0238
A0A077LQB4
Physiology
M476I
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13 (K13)
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
Kit
Coloration (coat ; white-spotting)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Wong AK; Ruhe AL; Robertson KR ; et al. (2013)
A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs.
GP00002228
Kit
P05532
Morphology
a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2 resulting in frameshift N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Kit
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Brooks SA; Bailey E (2005)
Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.
GP00000515
Kit
P05532
Morphology
T->A in intron 16; leads to skipping of exon 17
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
N
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00000516
Kit
P05532
Morphology
c.2151C>G pY717* N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Indel
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
Montague MJ; Li G; Gandolfi B ; et al. (2014)
Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology[...]
GP00000518
Kit
P05532
Morphology
Two nucleotide changes affecting site 3 of codon 345 and site 1 of codon 346 - resulting in Glu345Asp + His346Asn
c. 1035_1036delinsCA GAGCAY > GACAAY
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
2 Mutations:
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Marklund S; Kijas J; Rodriguez-Martinez H ; et al. (1998)
Molecular basis for the dominant white phenotype in the domestic pig.
3 Additional References
GP00000520
Kit
P05532
Morphology
2 mutations
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Kit (type III receptor protein-tyrosine kinase)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (skin; coat)
Coding,
SNP
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Leeb T (2015)
Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]
GP00001340
Kit
P05532
Morphology
c.662A>C p.Tyr221Ser
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus asinus
ass - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (skin; coat)
Coding,
SNP
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Leeb T (2015)
Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]
GP00001341
Kit
P05532
Morphology
c.1978+2T>A in splice donor site
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus asinus
ass - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00001344
Kit
P05532
Morphology
c.1789G>A p.G597R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002198
Kit
P05532
Morphology
c.706A>T p.K236* N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002199
Kit
P05532
Morphology
c.1805C>T p.A602V
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002200
Kit
P05532
Morphology
c.1960G>A p.G654R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002201
Kit
P05532
Morphology
c.2222-1G>A (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002202
Kit
P05532
Morphology
c.1126_1129delGAAC p.E376FfsX3 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002203
Kit
P05532
Morphology
c.2684+1G>A (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002204
Kit
P05532
Morphology
c.338-1G>C (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002205
Kit
P05532
Morphology
c.2193delG p.T732QfsX9 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002206
Kit
P05532
Morphology
c.856G>A p.G286R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002207
Kit
P05532
Morphology
c.1597T>C p.C533R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002208
Kit
P05532
Morphology
c.2021T>C p.L674P
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002209
Kit
P05532
Morphology
c.2001A>T p.E667D
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002210
Kit
P05532
Morphology
c.2472+5G>C (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002211
Kit
P05532
Morphology
c.2489A>T p.K830I
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002212
Kit
P05532
Morphology
c.2392_2445del p.H798_N815del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002213
Kit
P05532
Morphology
c.2045G>A p.R682H
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002214
Kit
P05532
Morphology
c.1322A>G p.Y441C
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002215
Kit
P05532
Morphology
c.1346 + 1G>A (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Jagannathan V; Rieder S ; et al. (2015)
A novel KIT variant in an Icelandic horse with white-spotted coat colour.
GP00002216
Kit
P05532
Morphology
c.2369delC p.Ala790Glufs*20 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Dürig N; Jude R; Holl H ; et al. (2017)
Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotte[...]
GP00002219
Kit
P05532
Morphology
g.77;740;239_77;742;136del1898insTATAT ~1.9-kb deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002220
Kit
P05532
Morphology
c.1473T>G p.Cys491Trp
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002221
Kit
P05532
Morphology
c.2536delA p.Ser846Valfs*15
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002222
Kit
P05532
Morphology
c.668T>C p.Leu223Pro
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hug P; Jude R; Henkel J ; et al. (2019)
A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.
GP00002223
Kit
P05532
Morphology
g.79;579;925-79;581;197del 1273bp deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat ; white-spotting)
Coding,
Deletion
N
Camelus dromedarius
Arabian camel - (species) D
Domesticated
Candidate Gene
Holl H; Isaza R; Mohamoud Y ; et al. (2017)
A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel.
GP00002229
Kit
P05532
Morphology
c.1842delG p.M614IfsX5 N
Camelus dromedarius
Arabian camel - (species)
Camelus dromedarius
Arabian camel - (species) D
Kit (type III receptor protein-tyrosine kinase)
Camelus dromedarius
Arabian camel - (species)
Published - Accepted by Curator
Kit ligand
Coloration (coat)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Seitz JJ; Schmutz SM; Thue TD ; et al. (1999)
A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and[...]
1 Additional References
GP00000101
KITLG
P21583
Morphology
Ala193Asp ; missense mutation at position 654 - according to OMIA: c.572C>A p.A191N N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Kit ligand
Bos taurus
cattle - (species)
Published - Accepted by Curator
KRT25
Hair type (curly)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Morgenthaler C; Diribarne M; Capitan A ; et al. (2017)
A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly[...]
1 Additional References
GP00002230
Krt25
Q8VCW2
Morphology
c.266G>A p.Arg89His
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
KRT25
Equus caballus
horse - (species)
Published - Accepted by Curator
KRT25
Hair type (curly)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Thomer A; Gottschalk M; Christmann A ; et al. (2018)
An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.
GP00002288
Sp6
Q9ESX2
Morphology
c.1090G>A p.Asp364Asn
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
KRT25
Equus caballus
horse - (species)
Published - Accepted by Curator
KRT27
Hair type (curly)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Daetwyler HD; Capitan A; Pausch H ; et al. (2014)
Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.
GP00002026
KRT27
Q0P5J6
Morphology
g.41636961C>G c.276C>G p.Asn92Lys
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
KRT27
Bos taurus
cattle - (species)
Published - Accepted by Curator
KRT6A
Feathers
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Ng CS; Wu P; Foley J ; et al. (2012)
The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis.
GP00000527
Krt6a
P50446
Morphology
69bp deletion partially overlapping with exon 5
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
KRT6A
Gallus gallus
chicken - (species)
Published - Accepted by Curator
KRT71
Hair type (curly)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000524
Krt71
Q9R0H5
Morphology
c.451A>T in exon 2 - Arg151Trp
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
KRT71
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
KRT71
Hair type (curly and hairless)
2 Mutations:
Coding
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010)
The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.
GP00000525
Krt71
Q9R0H5
Morphology
2 mutations
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
KRT71
Felis catus
domestic cat - (species)
Published - Accepted by Curator
KRT71
Hair type (curly and hairless)
Coding,
Deletion
N
Rattus norvegicus
Norway rat - (species) D
Domesticated
Linkage Mapping
Kuramoto T; Hirano R; Kuwamura M ; et al. (2010)
Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gen[...]
GP00001729
Krt71
Q9R0H5
Morphology
a 7-bp deletion at the splicing acceptor site of intron 1. The deletion provoked a 6-amino acid in-frame deletion (p.Val149_Gln154del) in the alpha-helical rod domain of KRT71 protein N
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species) D
KRT71
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
KRT71
Hair type (curly and hairless)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010)
The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.
GP00001730
Krt71
Q9R0H5
Morphology
eight base pair deletion mutation in exon one of the keratin 71 (KRT71) c.334delTGTGCCCA p.Met93AsnfsX14 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
KRT71
Bos taurus
cattle - (species)
Published - Accepted by Curator
KRT71
Hair type (curly)
Coding,
Indel
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Bauer A; Hadji Rasouliha S; Brunner MT ; et al. (2019)
A second KRT71 allele in curly coated dogs.
1 Additional References
GP00002231
Krt71
Q9R0H5
Morphology
c.1266_1273delinsACA p.Ser422ArgfsTer?
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
KRT71
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
KRT71
Hair type (curly)
Coding,
SNP
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gandolfi B; Alhaddad H; Joslin SE ; et al. (2013)
A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.
GP00002232
Krt71
Q9R0H5
Morphology
c.445-1G>C in splice site likely disrupts the highly conserved acceptor splicing site of intron one. Sequence of the complete RNA transcript revealed that an alternative downstream acceptor was employed N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
KRT71
Felis catus
domestic cat - (species)
Published - Accepted by Curator
KRT75L4
Feathers
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Guo X; Li YQ; Wang MS ; et al. (2018)
A parallel mechanism underlying frizzle in domestic chickens.
GP00002334
KRT75L4
A0A1L1RKR4
Morphology
15bp deletion resulting in loss of 5 conserved amino-acids
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
KRT75L4
Gallus gallus
chicken - (species)
Published - Accepted by Curator
KUK
Root development
2 Mutations:
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Meijón M; Satbhai SB; Tsuchimatsu T ; et al. (2014)
Genome-wide association study using cellular traits identifies a new regulator of root development i[...]
GP00001233
At1g60370
O80758
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
KUK
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
L6
Pathogen resistance
Coding,
Insertion
N
Linum usitatissimum
flax - (species)
Intraspecific
Linkage Mapping
Lawrence GJ; Finnegan EJ; Ayliffe MA ; et al. (1995)
The L6 gene for flax rust resistance is related to the Arabidopsis bacterial resistance gene RPS2 an[...]
GP00000528
L6
Q40253
Physiology
Truncated protein due to insertion of a transposable element. Reversion to resistance among descendants of mutant X75 was associated with excision of the newly transposable element Ac. N
Linum usitatissimum
flax - (species)
Linum usitatissimum
flax - (species)
L6
Linum usitatissimum
flax - (species)
Published - Accepted by Curator
lbh (limb bud and heart homolog)
Cranio-facial morphology (mandible)
Coding,
SNP
Labeotropheus fuelleborni
blue mbuna - (species) D
Interspecific
Linkage Mapping
Powder KE; Cousin H; McLinden GP ; et al. (2014)
A nonsynonymous mutation in the transcriptional regulator lbh is associated with cichlid craniofacia[...]
GP00001387
LBH
Q53QV2
Morphology
G>A p.R17Q
Maylandia zebra
zebra mbuna - (species)
Labeotropheus fuelleborni
blue mbuna - (species) D
lbh (limb bud and heart homolog)
Labeotropheus fuelleborni
blue mbuna - (species)
Published - Accepted by Curator
Ldia2 - Diaphanous-related formin
Shell chirality (coiling)
Coding,
Deletion
N
Lymnaea stagnalis
great pond snail - (species) D
Intraspecific
Association Mapping
Davison A; McDowell GS; Holden JM ; et al. (2016)
Formin Is Associated with Left-Right Asymmetry in the Pond Snail and the Frog.
GP00000538
DIAPH1
O60610
Morphology
1bp deletion resulting in frame-shift (pseudogenization) N
Lymnaea stagnalis
great pond snail - (species)
Lymnaea stagnalis
great pond snail - (species) D
Ldia2 - Diaphanous-related formin
Lymnaea stagnalis
great pond snail - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002656
lectin-24A
Q9VQU4
Physiology
a 165bp deletion in the protein coding sequence that results in a shift in the reading frame and a premature stop codon (p.Phe217_Glu273del*) N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
SNP
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002657
Physiology
L81 >STOP - point mutation that introduces a premature stop codon N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
SNP
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002658
lectin-24A
Q9VQU4
Physiology
Q254 >STOP - point mutation that introduces a premature stop codon N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
SNP
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002659
lectin-24A
Q9VQU4
Physiology
F217 >STOP - point mutation that introduces a premature stop codon N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Lethal Hybrid rescue
Hybrid incompatibility (F1 male lethality)
Coding,
Insertion
Drosophila simulans
(species) D
Interspecific
Linkage Mapping
Brideau NJ; Flores HA; Wang J ; et al. (2006)
Two Dobzhansky-Muller genes interact to cause hybrid lethality in Drosophila.
2 Additional References
GP00000540
Lhr
Q95RV3
Physiology
16a.a. insertion with effect in sensitive background only (Maheshwari and Barbash 2012)
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species) D
Lethal Hybrid rescue
Drosophila simulans
(species)
Published - Accepted by Curator
Lethal Hybrid rescue
Hybrid incompatibility (F1 male lethality)
Coding,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Maheshwari S; Barbash DA (2012)
An indel polymorphism in the hybrid incompatibility gene lethal hybrid rescue of Drosophila is funct[...]
GP00000541
Lhr
Q95RV3
Physiology
Coding divergence in a conserved stretch of 10 C-terminal amino-acids
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Lethal Hybrid rescue
Drosophila simulans
(species)
Published - Accepted by Curator
LIMONENE-MYRCENE SYNTHASE (LMS)
Fragrance (floral terpenoid volatiles; D -limonene and beta-myrcene)
Coding,
SNP
N
Erythranthe cardinalis
(species) D
Interspecific
Linkage Mapping
Byers KJ; Vela JP; Peng F ; et al. (2014)
Floral volatile alleles can contribute to pollinator-mediated reproductive isolation in monkeyflower[...]
GP00001761
LMS
W6A2K5
Physiology
G66T transversion mutation in exon 3 of McLMS (KM659024) that results in a nonsense mutation in the McLMS protein (G201X) N
Erythranthe lewisii
(species)
Erythranthe cardinalis
(species) D
LIMONENE-MYRCENE SYNTHASE (LMS)
Erythranthe cardinalis
(species)
Published - Accepted by Curator
LIPH
Hair length
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Linkage Mapping
Diribarne M; Mata X; Chantry-Darmon C ; et al. (2011)
A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Ory[...]
GP00000550
Liph
Q8CIV3
Morphology
1bp deletion resulting in frameshift N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
LIPH
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
Low-density lipoprotein receptor-related protein 2
Organ size (eye; enlarged)
3 Mutations:
Coding
N
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002349
LRP2
P98164
Morphology
3 mutations
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Low-density lipoprotein receptor-related protein 2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Lr21
Pathogen resistance
Coding,
Complex Change
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Huang L; Brooks S; Li W ; et al. (2009)
Evolution of new disease specificity at a simple resistance locus in a crop-weed complex: reconstitu[...]
GP00000551
C5ID17
Physiology
Novel pathogen specificity resulting from chimerism of the parental alleles after intragenic recombination
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Lr21
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Lr67
Pathogen resistance (rust ; mildew)
Coding,
SNP
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Moore JW; Herrera-Foessel S; Lan C ; et al. (2015)
A recently evolved hexose transporter variant confers resistance to multiple pathogens in wheat.
GP00001535
A0A0S1LH45
Physiology
Gly144Arg (exon 2) leads to a protein incapable of glucose import; LR67res exerts a dominant-negative effect through heterodimerization with these functional transporters to reduce glucose uptake.; alterations in hexose transport in infected leaves may explain its ability to reduce the growth of multiple biotrophic pathogen species
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
Lr67
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intergeneric or Higher
Candidate Gene
Wood KV; Lam YA; Seliger HH ; et al. (1989)
Complementary DNA coding click beetle luciferases can elicit bioluminescence of different colors.
GP00000552
P08659
Physiology
several nucleotide substitutions leading to several amino acid changes -exact amino acid changes unknown
Photinus pyralis
common eastern firefly - (species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intraspecific
Candidate Gene
Stolz U; Velez S; Wood KV ; et al. (2003)
Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle.
2 Additional References
GP00000553
P08659
Physiology
T739G and C740G in exon 4; leading to one amino acid change - colour difference between the yellow- and orange-emitting luciferases is due entirely to S247G
Pyrophorus plagiophthalamus
(species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
2 Mutations:
Coding
SNP
Pyrophorus plagiophthalamus
(species)
Intraspecific
Candidate Gene
Stolz U; Velez S; Wood KV ; et al. (2003)
Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle.
2 Additional References
GP00000554
P08659
Physiology
2 mutations
Pyrophorus plagiophthalamus
(species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intraspecific
Candidate Gene
Stolz U; Velez S; Wood KV ; et al. (2003)
Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle.
2 Additional References
GP00001758
P08659
Physiology
exact causing amino acid change(s) unknown
Pyrophorus plagiophthalamus
(species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
Lysine histidine transporter 1
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Zhao Y; Lu X; Liu C ; et al. (2012)
Identification and fine mapping of rhm1 locus for resistance to Southern corn leaf blight in maize.
GP00000555
LHT1
Q9FKS8
Physiology
354bp insertioin resulting in premature stop codon N
Zea mays
(species)
Zea mays
(species) D
Lysine histidine transporter 1
Zea mays
(species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
5 Mutations:
Coding
SNP
Opisthocomus hoazin
(species) D
Intergeneric or Higher
Candidate Gene
Kornegay JR; Schilling JW; Wilson AC (1994)
Molecular adaptation of a leaf-eating bird: stomach lysozyme of the hoatzin.
GP00000556
LYZ1
P04421
Physiology
5 mutations
Aves
birds - (class)
Opisthocomus hoazin
(species) D
lysozyme
Opisthocomus hoazin
(species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
5 Mutations:
Coding
SNP
Bos taurus
cattle - (species)
Intergeneric or Higher
Candidate Gene
Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2)
Adaptive evolution in the stomach lysozymes of foregut fermenters.
1 Additional References
GP00000557
LYZ1
P04421
Physiology
5 mutations
Mammalia
mammals - (class)
Bos taurus
cattle - (species)
lysozyme
Bos taurus
cattle - (species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
5 Mutations:
Coding
SNP
Colobinae
(subfamily)
Intergeneric or Higher
Candidate Gene
Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2)
Adaptive evolution in the stomach lysozymes of foregut fermenters.
3 Additional References
GP00000558
LYZ1
P04421
Physiology
5 mutations
Primates
(order)
Colobinae
(subfamily)
lysozyme
Colobinae
(subfamily)
Published - Accepted by Curator
M
Pathogen resistance
Coding,
Deletion
Linum usitatissimum
flax - (species) D
Intraspecific
Linkage Mapping
Anderson PA; Lawrence GJ; Morrish BC ; et al. (1997)
Inactivation of the flax rust resistance gene M associated with loss of a repeated unit within the l[...]
GP00000559
P93244
Physiology
426bp deletion, probably by unequal recombination
Linum usitatissimum
flax - (species)
Linum usitatissimum
flax - (species) D
M
Linum usitatissimum
flax - (species)
Published - Accepted by Curator
mab-23
Male genitalia
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Lints R; Emmons SW (2002)
Regulation of sex-specific differentiation and mating behavior in C. elegans by a new member of the [...]
1 Additional References
GP00001323
mab-23
G5ECK3
Morphology
TGC>TTC - cysteine of the DM motif transformed into phenylalanine; so is likely to disrupt DNA-binding function N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
mab-23
Caenorhabditis elegans
(species)
Published - Accepted by Curator
MAM1
Glucosinolate content
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kroymann J; Textor S; Tokuhisa JG ; et al. (2001)
A gene controlling variation in Arabidopsis glucosinolate composition is part of the methionine chai[...]
3 Additional References
GP00000562
MAM1
Q9FG67
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
MAM1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001303
PMA1
P05030
Physiology
C>G (Gly > Arg) @ position 250
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001304
PMA1
P05030
Physiology
C>T (Val > Ile) @ position 1120
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001305
PMA1
P05030
Physiology
C>T (Ser > Asn) @ position 806
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MC1R
Coloration (albinism)
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Gross JB; Borowsky R; Tabin CJ (2009)
A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]
GP00000567
MC1R
Q01726
Morphology
2bp deletion resulting in frameshift N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
MC1R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MC1R
Coloration (albinism)
Coding,
SNP
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Gross JB; Borowsky R; Tabin CJ (2009)
A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]
GP00000568
MC1R
Q01726
Morphology
Arg164Cys (position 160 in human; so this mutation resembles the human R160W hypomorphic human mutation)
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
MC1R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
2 Mutations:
Coding
SNP
Vulpes lagopus
Arctic fox - (species)
Interspecific
Candidate Gene
Våge DI; Fuglei E; Snipstad K ; et al. (2005)
Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...]
1 Additional References
GP00000569
MC1R
Q01726
Morphology
2 mutations
Vulpes vulpes
red fox - (species)
Vulpes lagopus
Arctic fox - (species)
MC1R
Vulpes lagopus
Arctic fox - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Klungland H; Våge DI; Gomez-Raya L ; et al. (1995)
The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.
1 Additional References
GP00000571
MC1R
Q01726
Morphology
1 bp deletion at 104: frameshift and premature stop at amino acid 156 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MC1R
Bos taurus
cattle - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Klungland H; Våge DI; Gomez-Raya L ; et al. (1995)
The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.
GP00000572
MC1R
Q01726
Morphology
L99P ; presumably constitutively active - g.14757910T>C c.296T>C p.L99P
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MC1R
Bos taurus
cattle - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Newton JM; Wilkie AL; He L ; et al. (2000)
Melanocortin 1 receptor variation in the domestic dog.
1 Additional References
GP00000573
MC1R
Q01726
Morphology
R306ter; deletes 12 of 17 a.a. from C-terminus
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Ellinwood NM ; et al. (2003 Jan-Feb)
MC1R studies in dogs with melanistic mask or brindle patterns.
GP00000574
MC1R
Q01726
Morphology
M264V
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000576
MC1R
Q01726
Morphology
R18C
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000577
MC1R
Q01726
Morphology
R109W
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000578
MC1R
Q01726
Morphology
R160W
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000579
MC1R
Q01726
Morphology
Q233H
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species)
Intraspecific
Candidate Gene
Marklund L; Moller MJ; Sandberg K ; et al. (1996)
A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated wit[...]
1 Additional References
GP00000580
MC1R
Q01726
Morphology
S83F
Equus caballus
horse - (species)
Equus caballus
horse - (species)
MC1R
Equus caballus
horse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Puma yagouaroundi
jaguarundi - (species) D
Intraspecific
Candidate Gene
Eizirik E; Yuhki N; Johnson WE ; et al. (2003)
Molecular genetics and evolution of melanism in the cat family.
GP00000581
MC1R
Q01726
Morphology
Deletion of aa 95-102
Puma yagouaroundi
jaguarundi - (species)
Puma yagouaroundi
jaguarundi - (species) D
MC1R
Puma yagouaroundi
jaguarundi - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
N
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000582
MC1R
Q01726
Morphology
1bp deletion at 183; frameshift & premature stop N
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus poschiavinus
(species)
Interspecific
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000583
MC1R
Q01726
Morphology
S69L
Mus musculus
house mouse - (species)
Mus poschiavinus
(species)
MC1R
Mus poschiavinus
(species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000584
MC1R
Q01726
Morphology
E92K
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000585
MC1R
Q01726
Morphology
L98P
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Candidate Gene
Wada A; Kunieda T; Nishimura M ; et al. (2005 Mar-Apr)
A nucleotide substitution responsible for the tawny coat color mutation carried by the MSKR inbred s[...]
GP00000586
MC1R
Q01726
Morphology
W252C
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
Deletion
Numida meleagris
helmeted guineafowl - (species) D
Domesticated
Candidate Gene
Vidal O; Araguas RM; Fernández E ; et al. (2010)
Melanism in guinea fowl (Numida meleagris) is associated with a deletion of Phenylalanine-256 in the[...]
GP00000587
MC1R
Q01726
Morphology
Phe256del
Numida meleagris
helmeted guineafowl - (species)
Numida meleagris
helmeted guineafowl - (species) D
MC1R
Numida meleagris
helmeted guineafowl - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Tazzoli M; Beretti F ; et al. (2006)
Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]
GP00000588
MC1R
Q01726
Morphology
6bp in-frame del of 94-95
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
MC1R
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Tazzoli M; Beretti F ; et al. (2006)
Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]
GP00000589
MC1R
Q01726
Morphology
30bp in-frame del of 102-111
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
MC1R
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Scotti E; Colombo M ; et al. (2010)
A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with t[...]
GP00000590
MC1R
Q01726
Morphology
6bp in frame deletion c.[124G>A;125_130del6] + L44T (homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits )
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
MC1R
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
Våge DI; Klungland H; Lu D ; et al. (1999)
Molecular and pharmacological characterization of dominant black coat color in sheep.
1 Additional References
GP00000591
MC1R
Q01726
Morphology
D121N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
MC1R
Ovis aries
sheep - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
Våge DI; Klungland H; Lu D ; et al. (1999)
Molecular and pharmacological characterization of dominant black coat color in sheep.
1 Additional References
GP00000592
MC1R
Q01726
Morphology
M73K
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
MC1R
Ovis aries
sheep - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Panthera onca
jaguar - (species) D
Intraspecific
Candidate Gene
Eizirik E; Yuhki N; Johnson WE ; et al. (2003)
Molecular genetics and evolution of melanism in the cat family.
GP00000593
MC1R
Q01726
Morphology
Deletion of aa 101-105 and L106T
Panthera onca
jaguar - (species)
Panthera onca
jaguar - (species) D
MC1R
Panthera onca
jaguar - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Linkage Mapping
Hoekstra HE; Hirschmann RJ; Bundey RA ; et al. (2006)
A single amino acid mutation contributes to adaptive beach mouse color pattern.
GP00000594
MC1R
Q01726
Morphology
R65C
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
MC1R
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Rattus rattus
black rat - (species)
Interspecific
Candidate Gene
Kambe Y; Tanikawa T; Matsumoto Y ; et al. (2011)
Origin of agouti-melanistic polymorphism in Wild Black Rats (Rattus rattus) inferred from Mc1r gene [...]
GP00000595
MC1R
Q01726
Morphology
Glu93Lys
Rattus tanezumi
Oriental house rat - (species)
Rattus rattus
black rat - (species)
MC1R
Rattus rattus
black rat - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Sciurus carolinensis
gray squirrel - (species) D
Sciurus niger
fox squirrel - (species) D
Intraspecific
Candidate Gene
McRobie H; Thomas A; Kelly J (2009 Nov-Dec)
The genetic basis of melanism in the gray squirrel (Sciurus carolinensis).
1 Additional References
GP00000596
MC1R
Q01726
Morphology
Deletion of 8 a.a.
Sciurus carolinensis
gray squirrel - (species)
Sciurus niger
fox squirrel - (species)
Sciurus carolinensis
gray squirrel - (species) D
Sciurus niger
fox squirrel - (species) D
MC1R
Sciurus carolinensis
gray squirrel - (species)
Sciurus niger
fox squirrel - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Ursus americanus
American black bear - (species)
Intraspecific
Candidate Gene
Ritland K; Newton C; Marshall HD (2001)
Inheritance and population structure of the white-phased "Kermode" black bear.
GP00000597
MC1R
Q01726
Morphology
Y298C
Ursus americanus
American black bear - (species)
Ursus americanus
American black bear - (species)
MC1R
Ursus americanus
American black bear - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Vulpes vulpes
red fox - (species)
Domesticated
Candidate Gene
Våge DI; Lu D; Klungland H ; et al. (1997)
A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes.
1 Additional References
GP00000598
MC1R
Q01726
Morphology
C125R; constitutively active receptor
Vulpes vulpes
red fox - (species)
Vulpes vulpes
red fox - (species)
MC1R
Vulpes vulpes
red fox - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Anser caerulescens
snow goose - (species)
Intraspecific
Candidate Gene
Mundy NI; Badcock NS; Hart T ; et al. (2004)
Conserved genetic basis of a quantitative plumage trait involved in mate choice.
GP00000599
MC1R
Q01726
Morphology
V85M
Anser caerulescens
snow goose - (species)
Anser caerulescens
snow goose - (species)
MC1R
Anser caerulescens
snow goose - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Coereba flaveola
Bananaquit - (species) D
Intraspecific
Candidate Gene
Theron E; Hawkins K; Bermingham E ; et al. (2001)
The molecular basis of an avian plumage polymorphism in the wild: a melanocortin-1-receptor point mu[...]
GP00000600
MC1R
Q01726
Morphology
E92K
Coereba flaveola
Bananaquit - (species)
Coereba flaveola
Bananaquit - (species) D
MC1R
Coereba flaveola
Bananaquit - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species)
Domesticated
Candidate Gene
Guernsey MW; Ritscher L; Miller MA ; et al. (2013)
A Val85Met mutation in melanocortin-1 receptor is associated with reductions in eumelanic pigmentati[...]
GP00000601
MC1R
Q01726
Morphology
Val85Met (G253A)
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species)
MC1R
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Nadeau NJ; Minvielle F; Mundy NI (2006)
Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japon[...]
GP00000602
MC1R
Q01726
Morphology
E92K
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
MC1R
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
Deletion
Falco eleonorae
(species) D
Intraspecific
Candidate Gene
Gangoso L; Grande JM; Ducrest AL ; et al. (2011)
MC1R-dependent, melanin-based colour polymorphism is associated with cell-mediated response in the E[...]
GP00000603
MC1R
Q01726
Morphology
Deletion of 3 a.a.
Falco eleonorae
(species)
Falco eleonorae
(species) D
MC1R
Falco eleonorae
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Falco rusticolus
gyrfalcon - (species)
Intraspecific
Candidate Gene
Johnson JA; Ambers AD; Burnham KK (2012 May-Jun)
Genetics of plumage color in the Gyrfalcon (Falco rusticolus): analysis of the melanocortin-1 recept[...]
GP00000604
MC1R
Q01726
Morphology
Val128Ile
Falco rusticolus
gyrfalcon - (species)
Falco rusticolus
gyrfalcon - (species)
MC1R
Falco rusticolus
gyrfalcon - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers; eyes)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
2 Additional References
GP00000605
MC1R
Q01726
Morphology
E92K; constitutive activation
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
GP00000606
MC1R
Q01726
Morphology
C33W
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
GP00000607
MC1R
Q01726
Morphology
D37G
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
GP00000608
MC1R
Q01726
Morphology
L244P
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Kerje S; Lind J; Schütz K ; et al. (2003)
Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken.
1 Additional References
GP00000609
MC1R
Q01726
Morphology
H215P
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Malurus leucopterus
white-winged fairy-wren - (species)
Intraspecific
Candidate Gene
Doucet SM; Shawkey MD; Rathburn MK ; et al. (2004)
Concordant evolution of plumage colour, feather microstructure and a melanocortin receptor gene betw[...]
GP00000610
MC1R
Q01726
Morphology
A16T caused by guanine-to-adenine (G_A) transition at site 46; and/or I38N cause by a tyrosine-to-adenine (T_A) transition at site 113; and/or V11N caused by a G_A transition at site 331; and/or Q157R caused by an A_G substitution at site 470; Val166Ileu - exact causing amino acid change(s) unknown
Malurus leucopterus
white-winged fairy-wren - (species)
Malurus leucopterus
white-winged fairy-wren - (species)
MC1R
Malurus leucopterus
white-winged fairy-wren - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Stercorarius parasiticus
(species)
Intraspecific
Candidate Gene
Mundy NI; Badcock NS; Hart T ; et al. (2004)
Conserved genetic basis of a quantitative plumage trait involved in mate choice.
GP00000611
MC1R
Q01726
Morphology
R230H
Stercorarius parasiticus
(species)
Stercorarius parasiticus
(species)
MC1R
Stercorarius parasiticus
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Sula leucogaster
(species)
Intraspecific
Candidate Gene
Baião PC; Parker PG (2012 May-Jun)
Evolution of the melanocortin-1 receptor (MC1R) in Boobies and Gannets (Aves, Suliformes).
GP00000612
MC1R
Q01726
Morphology
R112H
Sula leucogaster
(species)
Sula leucogaster
(species)
MC1R
Sula leucogaster
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Sula sula
red-footed booby - (species)
Intraspecific
Candidate Gene
Baião PC; Schreiber E; Parker PG (2007 Jul-Aug)
The genetic basis of the plumage polymorphism in red-footed boobies (Sula sula): a melanocortin-1 re[...]
GP00000613
MC1R
Q01726
Morphology
V85M and/or H207R; current data cannot determine which one or if both these substitutions are underlying the phenotypic variation
Sula sula
red-footed booby - (species)
Sula sula
red-footed booby - (species)
MC1R
Sula sula
red-footed booby - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
1 Additional References
GP00000615
MC1R
Q01726
Morphology
R151C
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
1 Additional References
GP00000616
MC1R
Q01726
Morphology
D294H
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
1 Additional References
GP00000617
MC1R
Q01726
Morphology
R160W
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Box NF; Wyeth JR; O'Gorman LE ; et al. (1997)
Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.
3 Additional References
GP00000618
MC1R
Q01726
Morphology
Val60Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000619
MC1R
Q01726
Morphology
Asp84Glu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000620
MC1R
Q01726
Morphology
Val92Met
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000621
MC1R
Q01726
Morphology
Arg142His
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000622
MC1R
Q01726
Morphology
Arg151Cys
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000623
MC1R
Q01726
Morphology
Ile155Thr
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000624
MC1R
Q01726
Morphology
Arg160Trp
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000625
MC1R
Q01726
Morphology
Arg163Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000626
MC1R
Q01726
Morphology
Asp294His
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Aspidoscelis inornatus
Little striped whiptail - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Hoekstra HE; Nachman MW (2004)
Adaptive reptile color variation and the evolution of the Mc1r gene.
1 Additional References
GP00000627
MC1R
Q01726
Morphology
I170T
Aspidoscelis inornatus
Little striped whiptail - (species)
Aspidoscelis inornatus
Little striped whiptail - (species)
MC1R
Aspidoscelis inornatus
Little striped whiptail - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Holbrookia maculata
lesser earless lizard - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Hoekstra HE; Nachman MW (2004)
Adaptive reptile color variation and the evolution of the Mc1r gene.
1 Additional References
GP00000628
MC1R
Q01726
Morphology
V168I; but failed functional validation in Rosenblum et al. 2010
Holbrookia maculata
lesser earless lizard - (species)
Holbrookia maculata
lesser earless lizard - (species)
MC1R
Holbrookia maculata
lesser earless lizard - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Sceloporus undulatus
fence lizard - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Römpler H; Schöneberg T ; et al. (2010)
Molecular and functional basis of phenotypic convergence in white lizards at White Sands.
GP00000629
MC1R
Q01726
Morphology
H208Y
Sceloporus undulatus
fence lizard - (species)
Sceloporus undulatus
fence lizard - (species)
MC1R
Sceloporus undulatus
fence lizard - (species)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007)
A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.
GP00000630
MC1R
Q01726
Morphology
Arg307Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
Insertion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Kijas JM; Moller M; Plastow G ; et al. (2001)
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pig[...]
1 Additional References
GP00000631
MC1R
Q01726
Morphology
2bp insertion at 23 generates early stop @ 56 & D"121"N ? N
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000632
MC1R
Q01726
Morphology
V"92"M actually at 95
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000633
MC1R
Q01726
Morphology
D"121"N Actually 124
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000634
MC1R
Q01726
Morphology
A"161"V actually 164
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000635
MC1R
Q01726
Morphology
L"99" P Actually 102
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000636
MC1R
Q01726
Morphology
A"240"T actually 243
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gustafson NA; Gandolfi B; Lyons LA (2017)
Not another type of potato: MC1R and the russet coloration of Burmese cats.
GP00001330
MC1R
Q01726
Morphology
3bp deletion at c.439-441del (p.Phe146del)
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
MC1R
Felis catus
domestic cat - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Monarcha castaneiventris
Makira monarch - (species) D
Intraspecific
Association Mapping
Uy JA; Cooper EA; Cutie S ; et al. (2016)
Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]
GP00001333
MC1R
Q01726
Morphology
Asp119Asn
Monarcha castaneiventris
Makira monarch - (species)
Monarcha castaneiventris
Makira monarch - (species) D
MC1R
Monarcha castaneiventris
Makira monarch - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012)
Strong signatures of selection in the domestic pig genome.
1 Additional References
GP00001337
MC1R
Q01726
Morphology
c.G>A p.Asp124Asn
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Arctocephalus gazella
antarctic fur seal - (species) D
Intraspecific
Candidate Gene
Norris BJ; Whan VA (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]
GP00001338
MC1R
Q01726
Morphology
c.C>T p.Ser291Phe
Arctocephalus gazella
antarctic fur seal - (species)
Arctocephalus gazella
antarctic fur seal - (species) D
MC1R
Arctocephalus gazella
antarctic fur seal - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Tyto alba
Barn owl - (species) D
Intraspecific
Candidate Gene
San-Jose LM; Ducrest AL; Ducret V ; et al. (2015)
Effect of the MC1R gene on sexual dimorphism in melanin-based colorations.
3 Additional References
GP00001339
MC1R
Q01726
Morphology
p.Val126Ile
Tyto alba
Barn owl - (species)
Tyto alba
Barn owl - (species) D
R
MC1R
Tyto alba
Barn owl - (species)
Reviewed
September 26, 2019 17:00
MC1R
Coloration (coat)
2 Mutations:
Coding
SNP
Rangifer tarandus
reindeer - (species) D
Domesticated
Candidate Gene
Våge DI; Nieminen M; Anderson DG ; et al. (2014)
Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral c[...]
GP00001350
Mc1r
Q01727
Morphology
2 mutations
Rangifer tarandus
reindeer - (species)
Rangifer tarandus
reindeer - (species) D
MC1R
Rangifer tarandus
reindeer - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Abitbol M; Legrand R; Tiret L (2014)
A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys.
GP00001351
Mc1r
Q01727
Morphology
c.629T>C p.Met210Thr
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
MC1R
Equus asinus
ass - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Anas platyrhynchos
mallard - (species) D
Domesticated
Candidate Gene
Yu W; Wang C; Xin Q ; et al. (2013)
Non-synonymous SNPs in MC1R gene are associated with the extended black variant in domestic ducks (A[...]
GP00001352
Mc1r
Q01727
Morphology
c.52G>A p.Glu18Lys
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
MC1R
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Fontanesi L; Beretti F; Riggio V ; et al. (2009)
Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: ass[...]
GP00001353
Mc1r
Q01727
Morphology
c.801C>G p.Cys267Trp
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
MC1R
Capra hircus
goat - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
N
Bos grunniens
domestic yak - (species) D
Domesticated
Candidate Gene
Zhang MQ; Xu X; Luo SJ (2014)
The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).
GP00001354
Mc1r
Q01727
Morphology
p.Gln34* and p.Met73Leu and p.Arg142Pro - p.Met73Leu and p.Arg142Pro were only found in heterozygous and their association with phenotype is supposed but not sure N
Bos grunniens
domestic yak - (species)
Bos grunniens
domestic yak - (species) D
MC1R
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Stercorarius parasiticus
(species)
Intraspecific
Candidate Gene
Janssen K; Mundy NI (2013)
Molecular population genetics of the melanic plumage polymorphism in Arctic skuas (Stercorarius para[...]
GP00001355
Mc1r
Q01727
Morphology
Melanic and nonmelanic haplotypes in the Arctic skua are defined by three amino acid changes: nonmelanic: His8-Glu12-Arg230; melanic: Arg8-Lys12-His230. The effect of each single amino acid change has not been tested
Stercorarius parasiticus
(species)
Stercorarius parasiticus
(species)
MC1R
Stercorarius parasiticus
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
3 Mutations:
Coding
SNP
Ramphastos dicolorus
(species) D
Ramphastos vitellinus
(species) D
Ramphastos tucanus
(species) D
Ramphastos toco
(species) D
Interspecific
Candidate Gene
Corso J; Mundy NI; Fagundes NJ ; et al. (2016)
Evolution of dark colour in toucans (Ramphastidae): a case of molecular adaptation?
GP00001367
Mc1r
Q01727
Morphology
3 mutations
Ramphastidae
(family)
Ramphastos dicolorus
(species) D
Ramphastos vitellinus
(species) D
Ramphastos tucanus
(species) D
Ramphastos toco
(species) D
MC1R
Ramphastos dicolorus
(species)
Ramphastos vitellinus
(species)
Ramphastos tucanus
(species)
Ramphastos toco
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Calidris pugnax
ruff - (species) D
Intraspecific
Association Mapping
Lamichhaney S; Fan G; Widemo F ; et al. (2016)
Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pug[...]
1 Additional References
GP00001466
MC1R
Q01726
Morphology
Several amino acid changes. The His207Arg substitution most likely has functional consequences because the same variant is associated with light color in the red-footed booby.
Calidris pugnax
ruff - (species)
Calidris pugnax
ruff - (species) D
MC1R
Calidris pugnax
ruff - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Leopardus geoffroyi
Geoffroy's cat - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001733
MC1R
Q01726
Morphology
All melanistic individuals were heterozygous for four variants that predicted three nonsynonymous substitutions, p.C125R, p.T177I, and p.G194S - In the laboratory mouse a Cys to Arg substitution at the site homologous to felid residue 125 causes constitutive activation of the receptor and the exact same change is thought to be responsible for melanism in the Alaska silver fox - therefore C125R is considered to be the likely causative alteration in the Geoffroy’s cat.
Leopardus geoffroyi
Geoffroy's cat - (species)
Leopardus geoffroyi
Geoffroy's cat - (species) D
MC1R
Leopardus geoffroyi
Geoffroy's cat - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Candidate Gene
Vidal O; Viñas J; Pla C (2010)
Variability of the melanocortin 1 receptor (MC1R) gene explains the segregation of the bronze locus [...]
GP00002299
MC1R
Q01726
Morphology
c.364A>T p.I122F
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
MC1R
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
MC1R
Coloration (feathers)
2 Mutations:
Coding
SNP
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Candidate Gene
Vidal O; Viñas J; Pla C (2010)
Variability of the melanocortin 1 receptor (MC1R) gene explains the segregation of the bronze locus [...]
GP00002300
MC1R
Q01726
Morphology
2 mutations
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
MC1R
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dürig N; Letko A; Lepori V ; et al. (2018)
Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.
GP00002301
MC1R
Q01726
Morphology
2-bp deletion in the coding sequence c.816_817delCT N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dreger DL; Schmutz SM (2010 Sep-Oct)
A new mutation in MC1R explains a coat color phenotype in 2 "old" breeds: Saluki and Afghan hound.
GP00002303
MC1R
Q01726
Morphology
c.233G>T p.G78V N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (feathers; eyes)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Dávila SG; Gil MG; Resino-Talaván P ; et al. (2014)
Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color pheno[...]
GP00002390
MC1R
Q01726
Morphology
the Arg213Cys mutation may be the cause of the loss or the decrease of function of the receptor to produce eumelanin
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC4R
Feeding behavior
Coding,
SNP
Astyanax mexicanus
Mexican tetra - (species)
Intraspecific
Linkage Mapping
Aspiras AC; Rohner N; Martineau B ; et al. (2015)
Melanocortin 4 receptor mutations contribute to the adaptation of cavefish to nutrient-poor conditio[...]
GP00000637
mc4r
B0V1P1
Behavior
Gly145Ser (candidate mutation)
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species)
MC4R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MDR1
Xenobiotic resistance
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Kimchi-Sarfaty C; Oh JM; Kim IW ; et al. (2007)
A "silent" polymorphism in the MDR1 gene changes substrate specificity.
GP00001858
ABCB1
P08183
Physiology
C3435T - synonymous mutation Ile - The SNP at position 26/3435 that changes the codon from ATC to ATT (Ile) reduces the codon usage from 47% to 35% (RSCU values change from 20.9 to 15.8). Leads to similar mRNA and protein levels but altered conformation of the protein.
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MDR1
Homo sapiens
human - (species)
Published - Accepted by Curator
MDS3
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000641
MDS3
P53094
Physiology
Phe - Val substitution
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MDS3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Li W; Sartelet A; Tamma N ; et al. (2016)
Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melan[...]
GP00000642
Mlph
Q91V27
Morphology
10bp deletion in exon1 ; c.87_96del p.Glu32Aspfs*1 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Melanophilin (MLPH)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Bauer A; Kehl A; Jagannathan V ; et al. (2018)
A novel MLPH variant in dogs with coat colour dilution.
GP00000643
Mlph
Q91V27
Morphology
c.705G>C p.Gln235His
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Ishida Y; David VA; Eizirik E ; et al. (2006)
A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat[...]
GP00000644
Mlph
Q91V27
Morphology
1bp deletion resulting in frameshift c.83delT N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Melanophilin (MLPH)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Vaez M; Follett SA; Bed'hom B ; et al. (2008)
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phe[...]
GP00000645
Mlph
Q91V27
Morphology
c.103C>T p.R35W
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Melanophilin (MLPH)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Christensen K ; et al. (2013)
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
GP00000646
Mlph
Q91V27
Morphology
deletion including intron 7 and exon 8 N
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
Melanophilin (MLPH)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Christensen K ; et al. (2013)
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
1 Additional References
GP00000647
Mlph
Q91V27
Morphology
Splice donor site variation in exon 8 resulting in a premature stop codon c.901+1G>A
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
Melanophilin (MLPH)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus
(genus) D
Domesticated
Candidate Gene
Fontanesi L; Scotti E; Allain D ; et al. (2014)
A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus [...]
GP00000648
Mlph
Q91V27
Morphology
1bp deletion resulting in frameshift N
Oryctolagus
(genus)
Oryctolagus
(genus) D
Melanophilin (MLPH)
Oryctolagus
(genus)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Oryctolagus
(genus) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00000649
Mlph
Q91V27
Morphology
c.111-5C>A (exon skipping resulting in frameshift and truncated protein)
Oryctolagus
(genus)
Oryctolagus
(genus) D
Melanophilin (MLPH)
Oryctolagus
(genus)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Linkage Mapping
Drögemüller C; Philipp U; Haase B ; et al. (2007)
A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal[...]
GP00002330
Mlph
Q91V27
Morphology
GA substitution at splice donor site causing Splicing defect
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Van Buren SL; Minor KM; Grahn RA ; et al. (2020)
A Third MLPH Variant Causing Coat Color Dilution in Dogs.
GP00002331
Mlph
Q91V27
Morphology
c.667_668insC p.(His223Profs*41) N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00002332
Mlph
Q91V27
Morphology
c.585delG p.L195LfsX123* N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Melanophilin (MLPH)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
Insertion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Tanaka J; Leeb T; Rushton J ; et al. (2019)
Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.
GP00002243
MFSD12
Q6NUT3
Morphology
p.(Asp201fs) due to c.600Cins N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
MFSD12
Equus caballus
horse - (species)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Hédan B; Cadieu E; Botherel N ; et al. (2019)
Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White[...]
GP00002244
MFSD12
Q6NUT3
Morphology
c.151C>T p.Arg51Cys N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
MFSD12
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MFSD12
Coloration (skin)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Adhikari K; Mendoza-Revilla J; Sohail A ; et al. (2019)
A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasi[...]
1 Additional References
GP00002245
MFSD12
Q6NUT3
Morphology
Y182H N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MFSD12
Homo sapiens
human - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00000659
Mitf
Q08874
Morphology
c.629A>G N310S yielding defective DNA-binding
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (feathers)
Coding,
Deletion
N
Coturnix japonica
Japanese quail - (species) D
Domesticated
Candidate Gene
Minvielle F; Bed'hom B; Coville JL ; et al. (2010)
The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with [...]
1 Additional References
GP00000660
Mitf
Q08874
Morphology
2bp deletion N
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Microphtalmia-associated transcription factor
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00002322
Mitf
Q08874
Morphology
c.519_523delGTGTC p.C174Sfs*20 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Dürig N; Jude R; Jagannathan V ; et al. (2017)
A novel MITF variant in a white American Standardbred foal.
GP00002323
Mitf
Q08874
Morphology
c.731G>A p.G244E
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Henkel J; Lafayette C; Brooks SA ; et al. (2019)
Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat [...]
GP00002324
Mitf
Q08874
Morphology
~63-kb deletion spanning exons 6-9 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Magdesian KG; Tanaka J; Bellone RR (2020)
A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse.
GP00002325
Mitf
Q08874
Morphology
8.7 kb deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
N
Bubalus bubalis
water buffalo - (species) D
Domesticated
Candidate Gene
Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015)
Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]
GP00002327
Mitf
Q08874
Morphology
c.328C>T p.R110* N
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Microphtalmia-associated transcription factor
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
N
Bubalus bubalis
water buffalo - (species) D
Domesticated
Candidate Gene
Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015)
Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]
GP00002328
Mitf
Q08874
Morphology
donor splice-site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of MITF N
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Microphtalmia-associated transcription factor
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Papio anubis
olive baboon - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001452
MAVS
Q7Z434
Physiology
Cys508Arg disrupting the protease cleavage site
Miopithecus talapoin
talapoin - (species)
Papio anubis
olive baboon - (species) D
Mitochondrial antiviral signaling (MAVS)
Papio anubis
olive baboon - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Macaca mulatta
Rhesus monkey - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001453
MAVS
Q7Z434
Physiology
Val506Gly resistant to cleavage
Miopithecus talapoin
talapoin - (species)
Macaca mulatta
Rhesus monkey - (species) D
Mitochondrial antiviral signaling (MAVS)
Macaca mulatta
Rhesus monkey - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Ateles geoffroyi
black-handed spider monkey - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001454
MAVS
Q7Z434
Physiology
Val506Ala resistant to cleavage
Lagothrix lagotricha
brown woolly monkey - (species)
Ateles geoffroyi
black-handed spider monkey - (species) D
Mitochondrial antiviral signaling (MAVS)
Ateles geoffroyi
black-handed spider monkey - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Plecturocebus moloch
red-bellied titi - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001455
MAVS
Q7Z434
Physiology
Val506Ala resistant to cleavage
Lagothrix lagotricha
brown woolly monkey - (species)
Plecturocebus moloch
red-bellied titi - (species) D
Mitochondrial antiviral signaling (MAVS)
Plecturocebus moloch
red-bellied titi - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Allenopithecus nigroviridis
Allen's swamp monkey - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001456
MAVS
Q7Z434
Physiology
Val506Met less susceptible to cleavage
Erythrocebus patas
red guenon - (species)
Allenopithecus nigroviridis
Allen's swamp monkey - (species) D
Mitochondrial antiviral signaling (MAVS)
Allenopithecus nigroviridis
Allen's swamp monkey - (species)
Published - Accepted by Curator
mitochondrial tyrosine tRNA
Hybrid incompatibility (F1 hybrid viability; F1 hybrid sterility)
Coding,
SNP
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Meiklejohn CD; Holmbeck MA; Siddiq MA ; et al. (2013)
An Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises [...]
1 Additional References
GP00001971
Physiology
C to T mutation at the base of the anticodon stem, so that G:C becomes G:U in the folded mRNA (see Fig. 1 of Hoekstra et al 2013)
Drosophila simulans
(species)
Drosophila simulans
(species) D
mitochondrial tyrosine tRNA
Drosophila simulans
(species)
Published - Accepted by Curator
MITOGEN-ACTIVATED PROTEIN KINASE 12 (MPK12)
Ozone sensitivity (stomata opening and stomatal CO2-sensitivity)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Jakobson L; Vaahtera L; Tõldsepp K ; et al. (2016)
Natural Variation in Arabidopsis Cvi-0 Accession Reveals an Important Role of MPK12 in Guard Cell CO[...]
GP00001383
MPK12
Q8GYQ5
Physiology
G53R
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
MITOGEN-ACTIVATED PROTEIN KINASE 12 (MPK12)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MKT1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000662
MKT1
P40850
Physiology
D30G (reversion; functionally verified); evolved independently in 3 lines
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MKT1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MKT1
Temperature tolerance
Virulence
Sporulation efficiency
Sporulation efficiency
Xenobiotic resistance (alcohol; ethanol)
Xenobiotic resistance (genotoxic DNA-damage agent)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
5 Additional References
GP00000666
MKT1
P40850
Physiology
Physiology
Physiology
Physiology
Physiology
Physiology
G30D (functionally verified); or haplotype including G30D (functionally verified)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
MKT1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Mla (=Sr33/AetRGA1e)
Pathogen resistance
Coding,
Unknown
Aegilops tauschii
(species)
Domesticated
Linkage Mapping
Periyannan S; Moore J; Ayliffe M ; et al. (2013)
The gene Sr33, an ortholog of barley Mla genes, encodes resistance to wheat stem rust race Ug99.
GP00000667
Mla1
Q7EXP5
Physiology
Unknown
Triticum aestivum
bread wheat - (species)
Aegilops tauschii
(species)
Mla (=Sr33/AetRGA1e)
Aegilops tauschii
(species)
Published - Accepted by Curator
Mla1
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
3 Additional References
GP00000668
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain - exact amino acid change unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla1
Hordeum vulgare
(species)
Published - Accepted by Curator
Mla1
Pathogen resistance
Coding,
Unknown
Triticum monococcum
(species)
Domesticated
Candidate Gene
Halterman D; Zhou F; Wei F ; et al. (2001)
The MLA6 coiled-coil, NBS-LRR protein confers AvrMla6-dependent resistance specificity to Blumeria g[...]
1 Additional References
GP00000669
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain
Triticum monococcum
(species)
Triticum monococcum
(species)
Mla1
Triticum monococcum
(species)
Published - Accepted by Curator
Mla13
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
2 Additional References
GP00000670
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain - exact amino acid change unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla13
Hordeum vulgare
(species)
Published - Accepted by Curator
Mla6
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
2 Additional References
GP00000671
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain - exact amino acid change(s) unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla6
Hordeum vulgare
(species)
Published - Accepted by Curator
MLO1
Pathogen resistance
Coding,
SNP
N
Pisum sativum
pea - (species)
Domesticated
Linkage Mapping
Pavan S; Schiavulli A; Appiano M ; et al. (2011)
Pea powdery mildew er1 resistance is associated to loss-of-function mutations at a MLO homologous lo[...]
GP00000673
MLO
P93766
Physiology
1bp substitution resulting in premature stop codon N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
MLO1
Pisum sativum
pea - (species)
Published - Accepted by Curator
MLO1
Pathogen resistance
Coding,
Deletion
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Bai Y; Pavan S; Zheng Z ; et al. (2008)
Naturally occurring broad-spectrum powdery mildew resistance in a Central American tomato accession [...]
GP00000674
MLO
P93766
Physiology
19bp deletion resulting in frameshift N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
MLO1
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
MNN4
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001711
MNN4
P36044
Physiology
Lys924Glu (A>G at position 64698 according to Table 1) - AAR to GAR position 64698
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MNN4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Molybdenum transporter1 (MOT1)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Poormohammad Kiani S; Trontin C; Andreatta M ; et al. (2012)
Allelic heterogeneity and trade-off shape natural variation for response to soil micronutrient.
GP00001270
MOT1
Q9SL95
Physiology
D104Y
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Molybdenum transporter1 (MOT1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MPK12
Water absorption (water use efficiency)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Des Marais DL; Auchincloss LC; Sukamtoh E ; et al. (2014)
Variation in MPK12 affects water use efficiency in Arabidopsis and reveals a pleiotropic link betwee[...]
GP00001283
MPK12
Q8GYQ5
Physiology
GGT to CGT @position 53
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
MPK12
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Mpv17
Coloration (albinism; iridophores)
Coding,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002358
mpv17
Q5TZ51
Morphology; Physiology
Deletion which removes 16 amino acids in a conserved region. The Mpv17 mutant in zebrafish displays a strong reduction of iridophores throughout larval and adult stages. N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
Mpv17
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
MRC2
Muscular mass
Tail shape (crooked ; defect)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Fasquelle C; Sartelet A; Li W ; et al. (2009)
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...]
2 Additional References
GP00002264
MRC2
Q9UBG0
Physiology
Morphology
c.2904-2905delAG p.Gly934X N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MRC2
Bos taurus
cattle - (species)
Published - Accepted by Curator
MRC2
Muscular mass
Tail shape (crooked ; defect)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Fasquelle C; Sartelet A; Li W ; et al. (2009)
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...]
2 Additional References
GP00002265
MRC2
Q9UBG0
Physiology
Morphology
c.1906T>G p.C636G
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MRC2
Bos taurus
cattle - (species)
Published - Accepted by Curator
MRS1
F2 lethality
3 Mutations:
Coding
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Interspecific
Linkage Mapping
Chou JY; Hung YS; Lin KH ; et al. (2010)
Multiple molecular mechanisms cause reproductive isolation between three yeast species.
GP00000678
MRS1
P07266
Physiology
3 mutations
Saccharomyces paradoxus
(species)
Saccharomyces bayanus
(species)
Saccharomyces kudriavzevii
(species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MRS1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MTH1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00000679
CUP1-1
P0CX80
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MTH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MTH1
Low-glucose adaptation (experimental evolution)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000680
CUP1-1
P0CX80
Physiology
Ty retrotranposition resulting in a coding frameshift N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MTH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Macquet A; Ralet MC; Loudet O ; et al. (2007)
A naturally occurring mutation in an Arabidopsis accession affects a beta-D-galactosidase that incre[...]
GP00000681
BGAL6
Q9FFN4
Physiology
44bp deletion in exon 15; from Leu-662 onwards. This deletion causes a frame-shift mutation changing the next 23 amino acids followed by the introduction of a stop codon. N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001274
BGAL6
Q9FFN4
Physiology
C->T @position 2223 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001275
BGAL6
Q9FFN4
Physiology
G->C @position 2240 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001276
BGAL6
Q9FFN4
Physiology
G->T @position 3425 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001277
BGAL6
Q9FFN4
Physiology
TACA insertion @position 4906 causing frame shift + Stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MUK1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001713
MUK1
Q02866
Physiology
Ser441STP(C>A at position 422266 according to Table 1) - TCR to TAR position 422266
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MUK1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
multidrug resistance protein 2
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001532
PF3D7_1447900
Q8IKZ6
Physiology
p.Thr484Ile
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
multidrug resistance protein 2
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
MuPKS
Coloration (psittacofulvin; feathers)
Coding,
SNP
Melopsittacus undulatus
budgerigar - (species) D
Domesticated
Association Mapping
Cooke TF; Fischer CR; Wu P ; et al. (2017)
Genetic Mapping and Biochemical Basis of Yellow Feather Pigmentation in Budgerigars.
GP00002121
PKS15
A0A218V6J0
Morphology
Melopsittacus undulatus
budgerigar - (species)
Melopsittacus undulatus
budgerigar - (species) D
MuPKS
Melopsittacus undulatus
budgerigar - (species)
Published - Accepted by Curator
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Glycogen content (muscles)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Milan D; Jeon JT; Looft C ; et al. (2000)
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle.
GP00000682
Prkag3
Q8BGM7
Physiology
R200Q in CBS1; which is the most conserved region among AMPK g chain isoforms; and R200 is conserved in mammalian and Drosophila AMPK g isoforms
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Glycogen content (muscles)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Ciobanu D; Bastiaansen J; Malek M ; et al. (2001)
Evidence for new alleles in the protein kinase adenosine monophosphate-activated gamma(3)-subunit ge[...]
GP00002333
Prkag3
Q8BGM7
Physiology
p.(I249V)
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MX1
Pathogen resistance (myxovirus)
Coding,
SNP
Gallus gallus
chicken - (species) D
Intraspecific
Ko JH; Jin HK; Asano A ; et al. (2002)
Polymorphisms and the differential antiviral activity of the chicken Mx gene.
GP00002249
MX1
P20591
Physiology
c.1892G>A p.S631N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
MX1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MYB-FL
Coloration (flower ; UV absorbance)
Coding,
Deletion
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Sheehan H; Moser M; Klahre U ; et al. (2016)
MYB-FL controls gain and loss of floral UV absorbance, a key trait affecting pollinator preference a[...]
GP00001590
MYB-FL
A0A0S3CVC7
Morphology
A 1-bp deletion in exon 3 causing a frameshift resulting in a truncated protein N
Petunia axillaris
(species)
Petunia exserta
(species) D
MYB-FL
Petunia exserta
(species)
Published - Accepted by Curator
MYB1
Coloration (flower)
Coding,
Deletion
N
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Chang SM; Lu Y; Rausher MD (2005)
Neutral evolution of the nonbinding region of the anthocyanin regulatory gene Ipmyb1 in Ipomoea.
GP00001458
myb1
Q4QS21
Morphology
2 deletions; 6-bp and 19-bp long; the larger produces a frameshift and a premature stop N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
MYB1
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
MYB1
Coloration (flowers; seeds; stems)
Coding,
Deletion
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Morita Y; Saitoh M; Hoshino A ; et al. (2006)
Isolation of cDNAs for R2R3-MYB, bHLH and WDR transcriptional regulators and identification of c and[...]
GP00002089
myb1
Q4QS21
Morphology
frameshift mutation caused by a 2 bp deletion N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
MYB1
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
myosin heavy chain 16 (MYH16)
Masticatory muscles
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intergeneric or Higher
Candidate Gene
Stedman HH; Kozyak BW; Nelson A ; et al. (2004)
Myosin gene mutation correlates with anatomical changes in the human lineage.
GP00000683
MYH16
Q9H6N6
Morphology
2bp deletion at codon 660 N
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
myosin heavy chain 16 (MYH16)
Homo sapiens
human - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Grobet L; Martin LJ; Poncelet D ; et al. (1997)
A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle.
2 Additional References
GP00000685
MSTN
O14793
Morphology
nt821 11bp deletion c.821-831delTGAACACTCCA p.Glu275ArgfsX14 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Indel
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000686
MSTN
O14793
Morphology
nt419 7bp deletion and 10bp insertion; leading to a premature stop codon at position 140 c.419_425del7, c418_426ins10 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000687
MSTN
O14793
Morphology
c.610C>T p.Q204* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000688
MSTN
O14793
Morphology
E226* caused by G676T N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
McPherron AC; Lee SJ (1997)
Double muscling in cattle due to mutations in the myostatin gene.
2 Additional References
GP00000689
MSTN
O14793
Morphology
C313Y caused by G938A; disrupts disulphide bond
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Marchitelli C; Savarese MC; Crisà A ; et al. (2003)
Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin g[...]
GP00000690
MSTN
O14793
Morphology
E291* caused by G>T N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Alexander LJ; Kuehn LA; Smith TP ; et al. (2009)
A Limousin specific myostatin allele affects longissimus muscle area and fatty acid profiles in a Wa[...]
GP00000692
MSTN
O14793
Morphology
c.282C>A p.Phe94Leu
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Boman IA; Klemetsdal G; Blichfeldt T ; et al. (2009)
A frameshift mutation in the coding region of the myostatin gene (MSTN) affects carcass conformation[...]
GP00000693
MSTN
O14793
Morphology
1bp deletion resulting in a premature stop codon at position 320 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Insertion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Boman IA; Våge DI (2009)
An insertion in the coding region of the myostatin (MSTN) gene affects carcass conformation and fatn[...]
GP00000694
MSTN
O14793
Morphology
1bp insertion resulting in premature stop codon at position 49 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Racing performance
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Mosher DS; Quignon P; Bustamante CD ; et al. (2007)
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygo[...]
GP00000697
MSTN
O14793
Morphology; Physiology
2bp deletion in the third exon c.939_940delTG p.C313* N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Myostatin (MSTN = GDF8)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Dierks C; Eder J; Glatzer S ; et al. (2015)
A novel myostatin mutation in double-muscled German Gelbvieh.
GP00002248
MSTN
O14793
Morphology
c.191T>C p.L64P
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Varanus salvator
water monitor - (species) D
Varanus niloticus
(species) D
Varanus albigularis
cape monitor - (species) D
Interspecific
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000699
Atp1a1
Q8VDN2
Physiology
2 mutations
Varanus tristis
(species)
Varanus mitchelli
(species)
Varanus scalaris
(species)
Varanus salvator
water monitor - (species) D
Varanus niloticus
(species) D
Varanus albigularis
cape monitor - (species) D
Na/K-ATPase alpha-subunit
Varanus salvator
water monitor - (species)
Varanus niloticus
(species)
Varanus albigularis
cape monitor - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Natricinae
(subfamily) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000700
Atp1a1
Q8VDN2
Physiology
2 mutations
Colubridae
colubrid snakes - (family)
Natricinae
(subfamily) D
Na/K-ATPase alpha-subunit
Natricinae
(subfamily)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Leptodactylus ocellatus
argus frog - (species) D
Intraspecific
Candidate Gene
Moore DJ; Halliday DC; Rowell DM ; et al. (2009)
Positive Darwinian selection results in resistance to cardioactive toxins in true toads (Anura: Bufo[...]
1 Additional References
GP00000701
Atp1a1
Q8VDN2
Physiology
2 mutations
Leptodactylus ocellatus
argus frog - (species)
Leptodactylus ocellatus
argus frog - (species) D
Na/K-ATPase alpha-subunit
Leptodactylus ocellatus
argus frog - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Atelopus spumarius
Pebas stubfoot toad - (species) D
Rhinella marina
marine toad - (species) D
Rhinella granulosa
granular toad - (species) D
Intergeneric or Higher
Candidate Gene
Moore DJ; Halliday DC; Rowell DM ; et al. (2009)
Positive Darwinian selection results in resistance to cardioactive toxins in true toads (Anura: Bufo[...]
1 Additional References
GP00000702
Atp1a1
Q8VDN2
Physiology
2 mutations
Hyloidea
(superfamily)
Atelopus spumarius
Pebas stubfoot toad - (species) D
Rhinella marina
marine toad - (species) D
Rhinella granulosa
granular toad - (species) D
Na/K-ATPase alpha-subunit
Atelopus spumarius
Pebas stubfoot toad - (species)
Rhinella marina
marine toad - (species)
Rhinella granulosa
granular toad - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Naja melanoleuca
forest cobra - (species) D
Naja naja
Indian cobra - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000703
Atp1a1
Q8VDN2
Physiology
2 mutations
Ophiophagus hannah
king cobra - (species)
Pseudechis australis
mulga snake - (species)
Hemiaspis signata
(species)
Naja melanoleuca
forest cobra - (species) D
Naja naja
Indian cobra - (species) D
Na/K-ATPase alpha-subunit
Naja melanoleuca
forest cobra - (species)
Naja naja
Indian cobra - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
4 Mutations:
Coding
SNP
Chrysochus auratus
dogbane beetle - (species) D
Interspecific
Candidate Gene
Aardema ML; Zhen Y; Andolfatto P (2012)
The evolution of cardenolide-resistant forms of Na⁺,K⁺ -ATPase in Danainae butterflies.
1 Additional References
GP00000704
Atp1a1
Q8VDN2
Physiology
4 mutations
Coleoptera
beetles - (order)
Chrysochus auratus
dogbane beetle - (species) D
Na/K-ATPase alpha-subunit
Chrysochus auratus
dogbane beetle - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Rhyssomatus lineaticollis
(species) D
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
GP00000705
K+ ATPase alpha subunit
R4ZHW8
Physiology
C104Y
Coleoptera
beetles - (order)
Rhyssomatus lineaticollis
(species) D
Na/K-ATPase alpha-subunit
Rhyssomatus lineaticollis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Tetraopes tetrophthalmus
red milkweed beetle - (species) D
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
1 Additional References
GP00000706
Atp1a1
Q8VDN2
Physiology
2 mutations
Coleoptera
beetles - (order)
Tetraopes tetrophthalmus
red milkweed beetle - (species) D
Na/K-ATPase alpha-subunit
Tetraopes tetrophthalmus
red milkweed beetle - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides; ouabaine)
4 Mutations:
Coding
SNP
Danaus plexippus
monarch butterfly - (species) D
Danaus erippus
(species) D
Interspecific
Candidate Gene
Aardema ML; Zhen Y; Andolfatto P (2012)
The evolution of cardenolide-resistant forms of Na⁺,K⁺ -ATPase in Danainae butterflies.
3 Additional References
GP00000707
Atp1a1
Q8VDN2
Physiology
4 mutations
Nymphalidae
brushfoots - (family)
Danaus plexippus
monarch butterfly - (species) D
Danaus erippus
(species) D
Na/K-ATPase alpha-subunit
Danaus plexippus
monarch butterfly - (species)
Danaus erippus
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Erinaceus europaeus
western European hedgehog - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000708
Atp1a1
Q8VDN2
Physiology
2 mutations
Condylura cristata
star-nosed mole - (species)
Erinaceus europaeus
western European hedgehog - (species) D
Na/K-ATPase alpha-subunit
Erinaceus europaeus
western European hedgehog - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
4 Mutations:
Coding
SNP
Oncopeltus fasciatus
milkweed bug - (species) D
Lygaeus kalmii
(species) D
Intergeneric or Higher
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
2 Additional References
GP00000709
Atp1a1
Q8VDN2
Physiology
4 mutations
Insecta
true insects - (class)
Oncopeltus fasciatus
milkweed bug - (species) D
Lygaeus kalmii
(species) D
Na/K-ATPase alpha-subunit
Oncopeltus fasciatus
milkweed bug - (species)
Lygaeus kalmii
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Labidomera clivicollis
(species) D
Intergeneric or Higher
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
1 Additional References
GP00000710
Atp1a1
Q8VDN2
Physiology
2 mutations
Insecta
true insects - (class)
Labidomera clivicollis
(species) D
Na/K-ATPase alpha-subunit
Labidomera clivicollis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Liriomyza asclepiadis
(species) D
Interspecific
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
GP00000711
Atp1a1
Q8VDN2
Physiology
N122H
Insecta
true insects - (class)
Liriomyza asclepiadis
(species) D
Na/K-ATPase alpha-subunit
Liriomyza asclepiadis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Aphis nerii
oleander aphid - (species)
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
GP00000712
K+ ATPase alpha subunit
R4ZHW8
Physiology
2 mutations
Insecta
true insects - (class)
Aphis nerii
oleander aphid - (species)
Na/K-ATPase alpha-subunit
Aphis nerii
oleander aphid - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Cycnia tenera
delicate cyncia - (species)
Lerina incarnata
(species)
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
1 Additional References
GP00000713
Atp1a1
Q8VDN2
Physiology
Q111L
Lepidoptera
butterflies and moths - (order)
Cycnia tenera
delicate cyncia - (species)
Lerina incarnata
(species)
Na/K-ATPase alpha-subunit
Cycnia tenera
delicate cyncia - (species)
Lerina incarnata
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Murinae
(subfamily) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000714
Atp1a1
Q8VDN2
Physiology
2 mutations
Rodentia
rodent - (order)
Murinae
(subfamily) D
Na/K-ATPase alpha-subunit
Murinae
(subfamily)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Varanus varius
lace monitor - (species) D
Varanus tristis
(species) D
Varanus scalaris
(species) D
Interspecific
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000715
Atp1a1
Q8VDN2
Physiology
2 mutations
Varanus salvator
water monitor - (species)
Varanus rudicollis
roughneck monitor - (species)
Varanus dumerilii
Dumeril monitor - (species)
Varanus varius
lace monitor - (species) D
Varanus tristis
(species) D
Varanus scalaris
(species) D
Na/K-ATPase alpha-subunit
Varanus varius
lace monitor - (species)
Varanus tristis
(species)
Varanus scalaris
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Bitis arietans
puff adder - (species) D
Bitis nasicornis
rhinoceros viper - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000716
Atp1a1
Q8VDN2
Physiology
2 mutations
Vipera berus
adder - (species)
Bitis arietans
puff adder - (species) D
Bitis nasicornis
rhinoceros viper - (species) D
Na/K-ATPase alpha-subunit
Bitis arietans
puff adder - (species)
Bitis nasicornis
rhinoceros viper - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
Unknown
Hydra vulgaris
(species) D
Intergeneric or Higher
Candidate Gene
Canfield VA; Xu KY; D'Aquila T ; et al. (1992)
Molecular cloning and characterization of Na,K-ATPase from Hydra vulgaris: implications for enzyme e[...]
GP00001738
Atp1a1
Q8VDN2
Physiology
Eumetazoa
(no rank)
Hydra vulgaris
(species) D
Na/K-ATPase alpha-subunit
Hydra vulgaris
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Rattus norvegicus
Norway rat - (species) D
Mus musculus
house mouse - (species) D
Mesocricetus auratus
golden hamster - (species) D
Peromyscus maniculatus
North American deer mouse - (species) D
Nannospalax galili
Upper Galilee mountains blind mole rat - (species) D
Intergeneric or Higher
Candidate Gene
Shull GE; Greeb J; Lingrel JB (1986)
Molecular cloning of three distinct forms of the Na+,K+-ATPase alpha-subunit from rat brain.
1 Additional References
GP00001739
Atp1a1
Q8VDN2
Physiology
2 mutations
Jaculus jaculus
lesser Egyptian jerboa - (species)
Spermophilus
old world ground squirrels - (genus)
Rattus norvegicus
Norway rat - (species) D
Mus musculus
house mouse - (species) D
Mesocricetus auratus
golden hamster - (species) D
Peromyscus maniculatus
North American deer mouse - (species) D
Nannospalax galili
Upper Galilee mountains blind mole rat - (species) D
Na/K-ATPase alpha-subunit
Rattus norvegicus
Norway rat - (species)
Mus musculus
house mouse - (species)
Mesocricetus auratus
golden hamster - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Nannospalax galili
Upper Galilee mountains blind mole rat - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Oncopeltus fasciatus
milkweed bug - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
1 Additional References
GP00001740
Atp1a1
Q8VDN2
Physiology
Q111T
Lygaeus kalmii
(species)
Oncopeltus fasciatus
milkweed bug - (species) D
Na/K-ATPase alpha-subunit
Oncopeltus fasciatus
milkweed bug - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Liriomyza
(genus) D
Interspecific
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
1 Additional References
GP00001741
Atp1a1
Q8VDN2
Physiology
Q111L
Phytomyzinae
(subfamily)
Liriomyza
(genus) D
Na/K-ATPase alpha-subunit
Liriomyza
(genus)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Saucrobotys futilalis
dogbane pyralid moth - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00001742
Atp1a1
Q8VDN2
Physiology
Q111L
Holometabola
(cohort)
Saucrobotys futilalis
dogbane pyralid moth - (species) D
Na/K-ATPase alpha-subunit
Saucrobotys futilalis
dogbane pyralid moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Wang ZJ; Liang CR; Shang ZY ; et al. (2021)
Insecticide resistance and resistance mechanisms in the melon aphid, Aphis gossypii, in Shandong, Ch[...]
GP00002491
nAChRbeta1
P04755
Physiology
R81T
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
nAChR
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Wang ZJ; Liang CR; Shang ZY ; et al. (2021)
Insecticide resistance and resistance mechanisms in the melon aphid, Aphis gossypii, in Shandong, Ch[...]
GP00002492
nAChRbeta1
P04755
Physiology
K264E
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
nAChR
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Bass C; Puinean AM; Andrews M ; et al. (2011)
Mutation of a nicotinic acetylcholine receptor β subunit is associated with resistance to neonicotin[...]
2 Additional References
GP00002553
nAChRbeta1
P04755
Physiology
R81T in the loop D region of the nAChR β1 subunit of the resistant clone
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
nAChR
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad; spirotetramat)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Puinean AM; Lansdell SJ; Collins T ; et al. (2013)
A nicotinic acetylcholine receptor transmembrane point mutation (G275E) associated with resistance t[...]
3 Additional References
GP00002554
nAChRbeta1
P04755
Physiology
G275E in nAchR alpha 6 due to a single nucleotide change
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
nAChR
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Thrips palmi
(species) D
Intraspecific
Candidate Gene
Bao WX; Narai Y; Nakano A ; et al. (2014)
Spinosad resistance of melon thrips, Thrips palmi, is conferred by G275E mutation in α6 subunit of n[...]
1 Additional References
GP00002555
nAChRbeta1
P04755
Physiology
G275E in nAchR alpha 6 due to a single nucleotide change
Thrips palmi
(species)
Thrips palmi
(species) D
nAChR
Thrips palmi
(species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Xu X; Ding Q; Wang X ; et al. (2022)
V101I and R81T mutations in the nicotinic acetylcholine receptor β1 subunit are associated with neon[...]
GP00002612
nAChRbeta1
P04755
Physiology
V101I
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
nAChR
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Silva WM; Berger M; Bass C ; et al. (2016)
Mutation (G275E) of the nicotinic acetylcholine receptor α6 subunit is associated with high levels o[...]
1 Additional References
GP00002621
nAChRbeta1
P04755
Physiology
G275E in nAchR alpha 6 due to a single nucleotide change
Tuta absoluta
(species)
Tuta absoluta
(species) D
nAChR
Tuta absoluta
(species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Unknown
N
Bactrocera dorsalis
oriental fruit fly - (species) D
Intraspecific
Candidate Gene
Hsu JC; Feng HT; Wu WJ ; et al. (2012)
Truncated transcripts of nicotinic acetylcholine subunit gene Bdα6 are associated with spinosad resi[...]
GP00002650
CHRNA6
Q15825
Physiology
Mutation in Bdα6 intron 2 (A change to T) just before the truncated/mis-splicing region and in same location with a mutation previously reported in the Pxylα6 gene. Small deletions and insertions leading to premature stop codons in exon 7. N
Bactrocera dorsalis
oriental fruit fly - (species)
Bactrocera dorsalis
oriental fruit fly - (species) D
nAChR
Bactrocera dorsalis
oriental fruit fly - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
SNP
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Linkage Mapping
Baxter SW; Chen M; Dawson A ; et al. (2010)
Mis-spliced transcripts of nicotinic acetylcholine receptor alpha6 are associated with field evolved[...]
GP00002651
CHRNA6
Q15825
Physiology
A mutation within the ninth intron splice junction of Pxalpha6 results in mis-splicing of transcripts and produce a predicted protein truncated between the third and fourth transmembrane domains. N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
nAChR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Rinkevich FD; Chen M; Shelton AM ; et al. (2010)
Transcripts of the nicotinic acetylcholine receptor subunit gene Pxylα6 with premature stop codons a[...]
GP00002652
CHRNA6
Q15825
Physiology
transcripts with premature stop codons N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
nAChR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Experimental Evolution
Candidate Gene
Wang J; Wang X; Lansdell SJ ; et al. (2016)
A three amino acid deletion in the transmembrane domain of the nicotinic acetylcholine receptor α6 s[...]
GP00002653
CHRNA6
Q15825
Physiology
a three amino acid (3-aa) deletion in the fourth transmembrane domain (TM4) of the nAChR α6 subunit N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
nAChR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Rhyzopertha dominica
lesser grain borer - (species) D
Intraspecific
Candidate Gene
Wang HT; Tsai CL; Chen ME (2018)
Nicotinic acetylcholine receptor subunit α6 associated with spinosad resistance in Rhyzopertha domin[...]
GP00002654
CHRNA6
Q15825
Physiology
Three mutations were found in the resistant strain compared with the susceptible one: (1) a 181-bp fragment truncated at the N-terminus resulting in the appearance of a premature stop codon - (2) one missing bp at the position 997 causing a frame-shift mutation and (3) an 87-bp fragment truncated in the TM2 region. N
Rhyzopertha dominica
lesser grain borer - (species)
Rhyzopertha dominica
lesser grain borer - (species) D
nAChR
Rhyzopertha dominica
lesser grain borer - (species)
Published - Accepted by Curator
NAM-B1 (=Gpc-B1)
Grain content
Senescence (grain)
Coding,
Insertion
N
Triticum turgidum
(species) D
Domesticated
Linkage Mapping
Uauy C; Distelfeld A; Fahima T ; et al. (2006)
A NAC Gene regulating senescence improves grain protein, zinc, and iron content in wheat.
GP00000717
NAM-B1
A0SPJ4
Physiology
Physiology
1bp insertion resulting in frameshift N
Triticum turgidum
(species)
Triticum turgidum
(species) D
NAM-B1 (=Gpc-B1)
Triticum turgidum
(species)
Published - Accepted by Curator
nath-10
Fertility (sperm number; egg laying rate)
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Duveau F; Félix MA (2012)
Role of pleiotropy in the evolution of a cryptic developmental variation in Caenorhabditis elegans.
GP00000718
nath-10
O01757
Morphology
Met746Ile (according to Table S2 C>T but it should be G>A - Needs curation)
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
nath-10
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Nav1 sodium channel
Xenobiotic resistance (pyrethroid; tau-fluvalinate)
3 Mutations:
Coding
SNP
Bombus impatiens
common eastern bumble bee - (species) D
Apis mellifera
honey bee - (species) D
Dufourea novaeangliae
(species) D
Eufriesea mexicana
(species) D
Habropoda laboriosa
(species) D
Melipona quadrifasciata
(species) D
Megachile rotundata
alfalfa leafcutting bee - (species) D
Athalia rosae
coleseed sawfly - (species) D
Intergeneric or Higher
Candidate Gene
Wu S; Nomura Y; Du Y ; et al. (2017)
Molecular basis of selective resistance of the bumblebee BiNa1 sodium channel to tau-fluvalinate.
GP00002648
SCN8A
Q9UQD0
Physiology
3 mutations
Polistes dominula
European paper wasp - (species)
Orussus abietinus
(species)
Diachasma alloeum
(species)
Bombus impatiens
common eastern bumble bee - (species) D
Apis mellifera
honey bee - (species) D
Dufourea novaeangliae
(species) D
Eufriesea mexicana
(species) D
Habropoda laboriosa
(species) D
Melipona quadrifasciata
(species) D
Megachile rotundata
alfalfa leafcutting bee - (species) D
Athalia rosae
coleseed sawfly - (species) D
Nav1 sodium channel
Bombus impatiens
common eastern bumble bee - (species)
Apis mellifera
honey bee - (species)
Dufourea novaeangliae
(species)
Eufriesea mexicana
(species)
Habropoda laboriosa
(species)
Melipona quadrifasciata
(species)
Megachile rotundata
alfalfa leafcutting bee - (species)
Athalia rosae
coleseed sawfly - (species)
Published - Accepted by Curator
Nav1.6 sodium channel
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species) D
Intraspecific
Candidate Gene
McGlothlin JW; Chuckalovcak JP; Janes DE ; et al. (2014)
Parallel evolution of tetrodotoxin resistance in three voltage-gated sodium channel genes in the gar[...]
GP00000735
SCN8A
Q9UQD0
Physiology
Ile1709Val
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species) D
Nav1.6 sodium channel
Thamnophis sirtalis
(species)
Published - Accepted by Curator
Nav1.7 sodium channel
Xenobiotic resistance (TTX)
4 Mutations:
Coding
SNP
Thamnophis sirtalis
(species) D
Intraspecific
Candidate Gene
McGlothlin JW; Chuckalovcak JP; Janes DE ; et al. (2014)
Parallel evolution of tetrodotoxin resistance in three voltage-gated sodium channel genes in the gar[...]
GP00000736
SCN9A
Q15858
Physiology
4 mutations
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species) D
Nav1.7 sodium channel
Thamnophis sirtalis
(species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Coding,
SNP
N
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Vickrey AI; Bruders R; Kronenberg Z ; et al. (2018)
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity i[...]
GP00002250
Ndp
P48744
Morphology
Start-codon change predicted to truncate the amino terminus of the NDP protein by 11 amino acids thereby disrupting the 24-amino acid signal peptide sequence N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
ndp (norrin)
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
Neverland
Cholesterol metabolism
Ecological specialization
4 Mutations:
Coding
SNP
Drosophila pachea
(species) D
Interspecific
Candidate Gene
Lang M; Murat S; Clark AG ; et al. (2012)
Mutations in the neverland gene turned Drosophila pachea into an obligate specialist species.
GP00000738
nvd
Q1JUZ1
Physiology
Physiology
4 mutations
Drosophila acanthoptera
(species)
Drosophila pachea
(species) D
Courtier Virginie
Neverland
Drosophila pachea
(species)
Published - Accepted by Curator
would be good to add text
March 8, 2019 10:00
Not much yang (Nmy)
Sex determination (sex ratio distortion)
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Tao Y; Masly JP; Araripe L ; et al. (2007)
A sex-ratio meiotic drive system in Drosophila simulans. I: an autosomal suppressor.
1 Additional References
GP00001970
Physiology
Loss of one of the inverted repeats that is present in the wild-type Dsim\Nmy locus and loss of most of the sequence located between the inverted repeats (except for a 93bp element in reverse orientation).
Drosophila simulans
(species)
Drosophila simulans
(species) D
Not much yang (Nmy)
Drosophila simulans
(species)
Published - Accepted by Curator
npr-1
Aggregation behavior
Foraging behavior
CO2 avoidance
Pathogen avoidance
Fertility (competitive fitness)
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
de Bono M; Bargmann CI (1998)
Natural variation in a neuropeptide Y receptor homolog modifies social behavior and food response in[...]
5 Additional References
GP00000739
npr-1
Q18534
Behavior
Behavior
Behavior
Behavior
Behavior; Physiology
Val215Phe (pleiotropic; see other entries)
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
npr-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Nramp aluminum transporter1
Metal tolerance
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Famoso AN; Zhao K; Clark RT ; et al. (2011)
Genetic architecture of aluminum tolerance in rice (Oryza sativa) determined through genome-wide ass[...]
GP00000740
NRAT1
Q6ZG85
Physiology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Nramp aluminum transporter1
Oryza sativa
rice - (species)
Published - Accepted by Curator
NRT1.1B
Nitrogen use (metabolism)
Coding,
SNP
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Hu B; Wang W; Ou S ; et al. (2015)
Variation in NRT1.1B contributes to nitrate-use divergence between rice subspecies.
GP00001375
NPF6.3
Q05085
Physiology
c.980C>T p.Met327Thr
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
NRT1.1B
Oryza sativa
rice - (species)
Published - Accepted by Curator
Nup160
Hybrid incompatibility (F1 male sterility)
Coding,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Tang S; Presgraves DC (2009)
Evolution of the Drosophila nuclear pore complex results in multiple hybrid incompatibilities.
GP00000742
Nup160
Q9VKJ3
Physiology
Coding divergence
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Nup160
Drosophila simulans
(species)
Published - Accepted by Curator
Nup96
Hybrid incompatibility (F1 male sterility)
Coding,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Presgraves DC; Balagopalan L; Abmayr SM ; et al. (2003)
Adaptive evolution drives divergence of a hybrid inviability gene between two species of Drosophila.
GP00000743
NUP96
Q8LLD0
Physiology
Coding divergence
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Nup96
Drosophila simulans
(species)
Published - Accepted by Curator
nurf-1
Fertility (reproductive timing; egg laying rate)
Lifespan
Growth rate
Diapause (dauer formation)
Coding,
Deletion
Caenorhabditis elegans
(species) D
Domesticated
Linkage Mapping
Large EE; Xu W; Zhao Y ; et al. (2016)
Selection on a Subunit of the NURF Chromatin Remodeler Modifies Life History Traits in a Domesticate[...]
GP00001318
nurf-1
Q6BER5
Physiology
Physiology
Physiology
Physiology
60bp deletion
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
nurf-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Catecholamine metabolism
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Protas ME; Hersey C; Kochanek D ; et al. (2006)
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
2 Additional References
GP00000745
Oca2
Q62052
Morphology
Physiology
Deletion of exon 21 N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
Oca2
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Catecholamine metabolism
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Protas ME; Hersey C; Kochanek D ; et al. (2006)
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
2 Additional References
GP00000746
Oca2
Q62052
Morphology
Physiology
Almost complete deletion of exon 24; + 2 a.a subsitutions at conserved positions - the two point mutations do not drastically affect the function of OCA2 in cell lines suggesting that the exon 24 deletion is the mutation that causes albinism in the Pachón population N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
Oca2
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (skin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Edwards M; Bigham A; Tan J ; et al. (2010)
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...]
1 Additional References
GP00000748
Oca2
Q62052
Morphology
His615Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Insertion
N
Pantherophis guttatus
(species) D
Intraspecific
Linkage Mapping
Saenko SV; Lamichhaney S; Martinez Barrio A ; et al. (2015)
Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 g[...]
GP00001619
OCA2
Q04671
Morphology
insertion of an LTR-retrotransposon (5832-bp) in the 11th intron resulting after splicing in an additional 397-bp fragment constituted of 3 new exons inserted between exons 11 and 12. Generates truncated protein with two stop codons N
Pantherophis guttatus
(species)
Pantherophis guttatus
(species) D
Oca2
Pantherophis guttatus
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Deletion
N
Melanochromis auratus
(species) D
Intraspecific
Candidate Gene
Kratochwil CF; Urban S; Meyer A (2019)
Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an ame[...]
GP00001955
Oca2
Q62052
Morphology
deletion covering a total of 5.4kb including exon 2 and parts of the flanking introns 1 and 2 N
Melanochromis auratus
(species)
Melanochromis auratus
(species) D
Oca2
Melanochromis auratus
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Insertion
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002351
Oca2
Q62052
Morphology
1-bp insert creating a frameshift and a truncated protein (470 amino acids instead of 805). In oca2L ohnolog on chromosome LG6. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Oca2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Deletion
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002352
Oca2
Q62052
Morphology
1-bp deletion creating a frameshift and a truncated protein (519 amino acids instead of 805). In oca2S ohnolog on chromosome LG31. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Oca2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
ocimene synthase (OS)
Pheromone production (cuticular hydrocarbons ; beta-ocimene)
Coding,
Unknown
Heliconius cydno
(species) D
Interspecific
Linkage Mapping
Darragh K; Orteu A; Black D ; et al. (2021)
A novel terpene synthase controls differences in anti-aphrodisiac pheromone production between close[...]
GP00002426
TPS
A0A7D0AGU9
Physiology
gain of expression - in vitro assay of the protein activity in E. coli - several amino acid changes between the 2 species
Heliconius melpomene
postman butterfly - (species)
Heliconius cydno
(species) D
ocimene synthase (OS)
Heliconius cydno
(species)
Published - Accepted by Curator
OCYMENE SYNTHASE (OS)
Fragrance (floral terpenoid volatiles; E- beta-ocimene)
Coding,
SNP
N
Erythranthe cardinalis
(species) D
Interspecific
Linkage Mapping
Byers KJ; Vela JP; Peng F ; et al. (2014)
Floral volatile alleles can contribute to pollinator-mediated reproductive isolation in monkeyflower[...]
1 Additional References
GP00001760
TPS02
P0CJ43
Physiology
multiple candidate coding sequence differences - together they eliminate the ability of the enzyme to produce E-beta-ocimene - effect of individual mutations not tested N
Erythranthe lewisii
(species)
Erythranthe cardinalis
(species) D
OCYMENE SYNTHASE (OS)
Erythranthe cardinalis
(species)
Published - Accepted by Curator
OCYMENE SYNTHASE (OS)
Fragrance (floral terpenoid volatiles; E- beta-ocimene)
Coding,
Deletion
N
Erythranthe verbenacea
(species) D
Interspecific
Candidate Gene
Peng F; Byers KJRP; Bradshaw HD (2017)
Less is more: Independent loss-of-function OCIMENE SYNTHASE alleles parallel pollination syndrome di[...]
GP00001762
TPS02
P0CJ43
Physiology
large deletion from the third exon to the last exon N
Erythranthe lewisii
(species)
Erythranthe verbenacea
(species) D
OCYMENE SYNTHASE (OS)
Erythranthe verbenacea
(species)
Published - Accepted by Curator
OCYMENE SYNTHASE (OS)
Fragrance (floral terpenoid volatiles; E- beta-ocimene)
Coding,
Insertion
N
Erythranthe bicolor
(species) D
Interspecific
Candidate Gene
Peng F; Byers KJRP; Bradshaw HD (2017)
Less is more: Independent loss-of-function OCIMENE SYNTHASE alleles parallel pollination syndrome di[...]
GP00001763
TPS02
P0CJ43
Physiology
2-bp insertion in the second exon, producing a frameshift mutation and premature termination N
Erythranthe lewisii
(species)
Erythranthe bicolor
(species) D
OCYMENE SYNTHASE (OS)
Erythranthe bicolor
(species)
Published - Accepted by Curator
Odorant receptor 3 (OR3)
Olfactory behavior (pheromone)
Coding,
SNP
Ostrinia furnacalis
Asian corn borer - (species)
Interspecific
Candidate Gene
Leary GP; Allen JE; Bunger PL ; et al. (2012)
Single mutation to a sex pheromone receptor provides adaptive specificity between closely related mo[...]
GP00000749
OR3
D3J5H6
Behavior
A148T
Ostrinia nubilalis
European corn borer - (species)
Ostrinia furnacalis
Asian corn borer - (species)
Odorant receptor 3 (OR3)
Ostrinia furnacalis
Asian corn borer - (species)
Published - Accepted by Curator
opaque2 (O2)
Lysine content (endosperm)
Coding,
Deletion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Schmidt RJ; Burr FA; Burr B (1987)
Transposon tagging and molecular analysis of the maize regulatory locus opaque-2.
1 Additional References
GP00000753
O2
P12959
Physiology
1bp deletion predicted to cause premature termination of translation N
Zea mays
(species)
Zea mays
(species) D
opaque2 (O2)
Zea mays
(species)
Published - Accepted by Curator
opsin
Color vision (blue)
Coding,
SNP
Alloteuthis subulata
(species)
Interspecific
Candidate Gene
Morris A; Bowmaker JK; Hunt DM (1993)
The molecular basis of a spectral shift in the rhodopsins of two species of squid from different pho[...]
GP00000755
opn1sw1
Q9W6A9
Physiology
F270S
Loligo forbesii
northern European squid - (species)
Alloteuthis subulata
(species)
opsin
Alloteuthis subulata
(species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision
Coding,
Deletion
N
Mysticeti
baleen whales - (suborder) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000756
OPN1SW
P03999
Physiology
4bp frameshift deletion in exon 1 of SWS1 that results in a premature stop codon N
Cetacea
whales - (order)
Mysticeti
baleen whales - (suborder) D
opsin - (SWS1)
Mysticeti
baleen whales - (suborder)
Published - Accepted by Curator
opsin - (SWS1)
Color vision
Coding,
SNP
Odontoceti
tooth whales - (suborder)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000757
OPN1SW
P03999
Physiology
E113G; disrupts opsin-chromophore binding
Cetacea
whales - (order)
Odontoceti
tooth whales - (suborder)
opsin - (SWS1)
Odontoceti
tooth whales - (suborder)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (loss of violet-range sensitivity)
Coding,
Deletion
N
Sciurus carolinensis
gray squirrel - (species) D
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000758
OPN1SW
P03999
Physiology
6bp deletion (residues 77-78) + 1bp frameshift deletion N
Sciurus carolinensis
gray squirrel - (species)
Sciurus carolinensis
gray squirrel - (species) D
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (loss of violet-range sensitivity)
Coding,
Deletion
Sciurus carolinensis
gray squirrel - (species) D
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000759
OPN1SW
P03999
Physiology
9bp deletion (residues 93-95)
Sciurus carolinensis
gray squirrel - (species)
Sciurus carolinensis
gray squirrel - (species) D
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Melopsittacus undulatus
budgerigar - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Radlwimmer FB; Blow NS (2000)
Ultraviolet pigments in birds evolved from violet pigments by a single amino acid change.
1 Additional References
GP00000760
OPN1SW
P03999
Physiology
2 mutations
Aves
birds - (class)
Melopsittacus undulatus
budgerigar - (species) D
opsin - (SWS1)
Melopsittacus undulatus
budgerigar - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Rhea americana
greater rhea - (species) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
2 Additional References
GP00000761
OPN1SW
P03999
Physiology
2 mutations
Aves
birds - (class)
Rhea americana
greater rhea - (species) D
opsin - (SWS1)
Rhea americana
greater rhea - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Larus
(genus) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
1 Additional References
GP00000762
OPN1SW
P03999
Physiology
2 mutations
Aves
birds - (class)
Larus
(genus) D
opsin - (SWS1)
Larus
(genus)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
Coding,
SNP
Trogon curucui
(species) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
1 Additional References
GP00000763
OPN1SW
P03999
Physiology
S86F
Aves
birds - (class)
Trogon curucui
(species) D
opsin - (SWS1)
Trogon curucui
(species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
Coding,
SNP
Taeniopygia guttata
zebra finch - (species)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Radlwimmer FB; Blow NS (2000)
Ultraviolet pigments in birds evolved from violet pigments by a single amino acid change.
1 Additional References
GP00000764
OPN1SW
P03999
Physiology
S90C
Passeriformes
(order)
Taeniopygia guttata
zebra finch - (species)
opsin - (SWS1)
Taeniopygia guttata
zebra finch - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
3 Mutations:
Coding
SNP
Xenopus laevis
African clawed frog - (species) D
Intergeneric or Higher
Candidate Gene
Takahashi Y; Yokoyama S (2005)
Genetic basis of spectral tuning in the violet-sensitive visual pigment of African clawed frog, Xeno[...]
GP00000765
OPN1SW
P03999
Physiology
3 mutations
Amniota
amniotes - (no rank)
Xenopus laevis
African clawed frog - (species) D
opsin - (SWS1)
Xenopus laevis
African clawed frog - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Macropodidae
(family)
Intergeneric or Higher
Candidate Gene
Deeb SS; Wakefield MJ; Tada T ; et al. (2003)
The cone visual pigments of an Australian marsupial, the tammar wallaby (Macropus eugenii): sequence[...]
1 Additional References
GP00000766
OPN1SW
P03999
Physiology
F86Y
Metatheria
marsupials - (no rank)
Macropodidae
(family)
opsin - (SWS1)
Macropodidae
(family)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Candidate Gene
Parry JW; Poopalasundaram S; Bowmaker JK ; et al. (2004)
A novel amino acid substitution is responsible for spectral tuning in a rodent violet-sensitive visu[...]
GP00000767
OPN1SW
P03999
Physiology
F86V
Rodentia
rodent - (order)
Cavia porcellus
domestic guinea pig - (species)
opsin - (SWS1)
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Sciurus carolinensis
gray squirrel - (species)
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000768
OPN1SW
P03999
Physiology
F86Y
Rodentia
rodent - (order)
Sciurus carolinensis
gray squirrel - (species)
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
Coding,
SNP
Aves
birds - (class) D
Intergeneric or Higher
Candidate Gene
Carvalho LS; Cowing JA; Wilkie SE ; et al. (2007)
The molecular evolution of avian ultraviolet- and violet-sensitive visual pigments.
1 Additional References
GP00001694
OPN1SW
P03999
Physiology
V116L
Vertebrata
vertebrates - (no rank)
Aves
birds - (class) D
opsin - (SWS1)
Aves
birds - (class)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
Deletion
Lepidopus fitchi
(species) D
Intergeneric or Higher
Candidate Gene
Tada T; Altun A; Yokoyama S (2009)
Evolutionary replacement of UV vision by violet vision in fish.
GP00001704
OPN1SW
P03999
Physiology
deletion of Phe86 (3-bp deletion)
Actinopterygii
ray-finned fishes - (superclass)
Lepidopus fitchi
(species) D
opsin - (SWS1)
Lepidopus fitchi
(species)
Published - Accepted by Curator
opsin - (SWS2)
Color vision (blue- and red-shifts)
2 Mutations:
Coding
SNP
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Candidate Gene
Marques DA; Taylor JS; Jones FC ; et al. (2017)
Convergent evolution of SWS2 opsin facilitates adaptive radiation of threespine stickleback into dif[...]
GP00001679
opn1sw2
Q9W6A8
Physiology
2 mutations
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
opsin - (SWS2)
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
opsin - (SWS2)
Color vision
3 Mutations:
Coding
SNP
Cottus gobio
bullhead - (species) D
Intergeneric or Higher
Candidate Gene
Cowing JA; Poopalasundaram S; Wilkie SE ; et al. (2002)
Spectral tuning and evolution of short wave-sensitive cone pigments in cottoid fish from Lake Baikal[...]
GP00001771
opn1sw2
Q9W6A8
Physiology
3 mutations
Cottidae
sculpins - (family)
Cottus gobio
bullhead - (species) D
opsin - (SWS2)
Cottus gobio
bullhead - (species)
Published - Accepted by Curator
opsin - (SWS2B)
Color vision
Coding,
SNP
Tramitichromis intermedius
(species)
Interspecific
Candidate Gene
O'Quin KE; Schulte JE; Patel Z ; et al. (2012)
Evolution of cichlid vision via trans-regulatory divergence.
GP00001440
opn1sw2
Q9W6A8
Physiology
Ala269Thr causing a 10nm Spectral Sensitivity Shift
Aulonocara baenschi
Nkhomo-benga peacock cichlid - (species)
Tramitichromis intermedius
(species)
opsin - (SWS2B)
Tramitichromis intermedius
(species)
Published - Accepted by Curator
opsin - rhodopsin (LWRh)
Color vision (blue shift)
2 Mutations:
Coding
SNP
Limenitis archippus
viceroy - (species)
Intergeneric or Higher
Candidate Gene
Frentiu FD; Bernard GD; Cuevas CI ; et al. (2007)
Adaptive evolution of color vision as seen through the eyes of butterflies.
GP00000769
LWRh
E2DZP1
Physiology
2 mutations
Limenitis arthemis
white admiral - (species)
Limenitis archippus
viceroy - (species)
opsin - rhodopsin (LWRh)
Limenitis archippus
viceroy - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWRh)
Color vision (blue shift)
2 Mutations:
Coding
SNP
Junonia
buckeyes - (genus)
Intergeneric or Higher
Candidate Gene
Frentiu FD; Bernard GD; Cuevas CI ; et al. (2007)
Adaptive evolution of color vision as seen through the eyes of butterflies.
GP00000770
LWRh
E2DZP1
Physiology
2 mutations
Nymphalidae
brushfoots - (family)
Junonia
buckeyes - (genus)
opsin - rhodopsin (LWRh)
Junonia
buckeyes - (genus)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Balaenopteridae
rorquals - (family) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000771
OPN1LW
P04000
Physiology
22bp deletion including transciption start N
Cetacea
whales - (order)
Balaenopteridae
rorquals - (family) D
opsin - rhodopsin (LWS)
Balaenopteridae
rorquals - (family)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000772
OPN1LW
P04000
Physiology
44bp frameshift deletion 9 + possibly GT to CT splice site mutation N
Cetacea
whales - (order)
Kogia breviceps
pygmy sperm whale - (species) D
opsin - rhodopsin (LWS)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Physeter catodon
sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000773
OPN1LW
P04000
Physiology
1bp + 28bp frameshift deletions N
Cetacea
whales - (order)
Physeter catodon
sperm whale - (species) D
opsin - rhodopsin (LWS)
Physeter catodon
sperm whale - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Insertion
N
Mesoplodon bidens
Sowerby's beaked whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000774
OPN1LW
P04000
Physiology
4bp frameshift insertion in exon 2 of LWS N
Cetacea
whales - (order)
Mesoplodon bidens
Sowerby's beaked whale - (species) D
opsin - rhodopsin (LWS)
Mesoplodon bidens
Sowerby's beaked whale - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
SNP
Balaenidae
right whales - (family)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000775
OPN1LW
P04000
Physiology
AG to GG splice site mutation
Cetacea
whales - (order)
Balaenidae
right whales - (family)
opsin - rhodopsin (LWS)
Balaenidae
right whales - (family)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision (blue shift)
Coding,
SNP
Neochromis greenwoodi
(species)
Interspecific
Candidate Gene
Terai Y; Seehausen O; Sasaki T ; et al. (2006)
Divergent selection on opsins drives incipient speciation in Lake Victoria cichlids.
GP00000776
OPN1LW
P04000
Physiology
Candidate mutations are CS180A and/or I277C (human LWS/MWS numbering)
African cichlids
(no rank)
Neochromis greenwoodi
(species)
opsin - rhodopsin (LWS)
Neochromis greenwoodi
(species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision (blue shift)
3 Mutations:
Coding
SNP
Pundamilia pundamilia
(species)
Intraspecific
Candidate Gene
Seehausen O; Terai Y; Magalhaes IS ; et al. (2008)
Speciation through sensory drive in cichlid fish.
GP00000777
OPN1LW
P04000
Physiology
3 mutations
Pundamilia pundamilia
(species)
Pundamilia pundamilia
(species)
opsin - rhodopsin (LWS)
Pundamilia pundamilia
(species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision (blue-shift)
Coding,
SNP
Tursiops truncatus
bottlenose dolphin - (species) D
Intergeneric or Higher
Candidate Gene
Fasick JI; Robsinson PR (1998)
Mechanism of spectral tuning in the dolphin visual pigments.
GP00001703
OPN1LW
P04000
Physiology
A292S
Mammalia
mammals - (class)
Tursiops truncatus
bottlenose dolphin - (species) D
opsin - rhodopsin (LWS)
Tursiops truncatus
bottlenose dolphin - (species)
Published - Accepted by Curator
opsin - rhodopsin (MWS=duplicate of LWS)
Color vision (green-shift)
7 Mutations:
Coding
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Asenjo AB; Rim J; Oprian DD (1994)
Molecular determinants of human red/green color discrimination.
1 Additional References
GP00000778
OPN1MW
P04001
Physiology
7 mutations
Primates
(order)
Catarrhini
(parvorder)
opsin - rhodopsin (MWS=duplicate of LWS)
Catarrhini
(parvorder)
Published - Accepted by Curator
opsin - rhodopsin (UVRh2)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
Intergeneric or Higher
Candidate Gene
Briscoe AD; Bybee SM; Bernard GD ; et al. (2010)
Positive selection of a duplicated UV-sensitive visual pigment coincides with wing pigment evolution[...]
1 Additional References
GP00000779
UVRh2
E2DZL8
Physiology
2 mutations
Nymphalidae
brushfoots - (family)
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
opsin - rhodopsin (UVRh2)
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
2 Mutations:
Coding
SNP
undetermined Cottoidei 'Lake Baikal'
(species)
Intergeneric or Higher
Candidate Gene
Hunt DM; Fitzgibbon J; Slobodyanyuk SJ ; et al. (1996)
Spectral tuning and molecular evolution of rod visual pigments in the species flock of cottoid fish [...]
GP00000780
RHO
P08100
Physiology
2 mutations
undetermined Cottoidei 'Lake Baikal'
(species)
undetermined Cottoidei 'Lake Baikal'
(species)
opsin - rhodopsin1 (RH1)
undetermined Cottoidei 'Lake Baikal'
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
Coding,
SNP
Megaderma lyra
Indian false vampire - (species) D
Intergeneric or Higher
Candidate Gene
Sugawara T; Imai H; Nikaido M ; et al. (2010)
Vertebrate rhodopsin adaptation to dim light via rapid meta-II intermediate formation.
GP00000781
RHO
P08100
Physiology
D83N
Chiroptera
bats - (order)
Megaderma lyra
Indian false vampire - (species) D
opsin - rhodopsin1 (RH1)
Megaderma lyra
Indian false vampire - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
2 Mutations:
Coding
SNP
Sebastolobus altivelis
(species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T; Yamato T (2007 Mar-Apr)
Modulation of the absorption maximum of rhodopsin by amino acids in the C-terminus.
1 Additional References
GP00000782
RHO
P08100
Physiology
2 mutations
Teleostei
teleost fishes - (infraclass)
Sebastolobus altivelis
(species) D
opsin - rhodopsin1 (RH1)
Sebastolobus altivelis
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
Coding,
SNP
Flaveria trinervia
(species)
Intergeneric or Higher
Candidate Gene
Sugawara T; Imai H; Nikaido M ; et al. (2010)
Vertebrate rhodopsin adaptation to dim light via rapid meta-II intermediate formation.
GP00000783
RHO
P08100
Physiology
D83N
Vespertilionidae
common bats - (family)
Flaveria trinervia
(species)
opsin - rhodopsin1 (RH1)
Flaveria trinervia
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Squamata
squamates - (order) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Zhang H; Radlwimmer FB ; et al. (1999)
Adaptive evolution of color vision of the Comoran coelacanth (Latimeria chalumnae).
1 Additional References
GP00000784
RHO
P08100
Physiology
D83N
Amniota
amniotes - (no rank)
Squamata
squamates - (order) D
opsin - rhodopsin1 (RH1)
Squamata
squamates - (order)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Orcinus orca
killer whale - (species) D
Intergeneric or Higher
Candidate Gene
Dungan SZ; Kosyakov A; Chang BS (2016)
Spectral Tuning of Killer Whale (Orcinus orca) Rhodopsin: Evidence for Positive Selection and Functi[...]
1 Additional References
GP00000785
RHO
P08100
Physiology
2 mutations
Bos taurus
cattle - (species)
Orcinus orca
killer whale - (species) D
opsin - rhodopsin1 (RH1)
Orcinus orca
killer whale - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
African cichlids
(no rank)
Intergeneric or Higher
Candidate Gene
Sugawara T; Terai Y; Imai H ; et al. (2005)
Parallelism of amino acid changes at the RH1 affecting spectral sensitivity among deep-water cichlid[...]
1 Additional References
GP00000786
RHO
P08100
Physiology
A292S and reversals; many independent cases
African cichlids
(no rank)
African cichlids
(no rank)
opsin - rhodopsin1 (RH1)
African cichlids
(no rank)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
3 Mutations:
Coding
SNP
Tursiops truncatus
bottlenose dolphin - (species)
Intergeneric or Higher
Candidate Gene
Fasick JI; Robsinson PR (1998)
Mechanism of spectral tuning in the dolphin visual pigments.
2 Additional References
GP00000787
RHO
P08100
Physiology
3 mutations
Mammalia
mammals - (class)
Tursiops truncatus
bottlenose dolphin - (species)
opsin - rhodopsin1 (RH1)
Tursiops truncatus
bottlenose dolphin - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Elephantidae
elephants - (family)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Takenaka N; Agnew DW ; et al. (2005)
Elephants and human color-blind deuteranopes have identical sets of visual pigments.
1 Additional References
GP00000788
RHO
P08100
Physiology
D83N
Mammalia
mammals - (class)
Elephantidae
elephants - (family)
opsin - rhodopsin1 (RH1)
Elephantidae
elephants - (family)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Physeteridae
sperm whales - (family)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000789
RHO
P08100
Physiology
K195T
Cetacea
whales - (order)
Physeteridae
sperm whales - (family)
opsin - rhodopsin1 (RH1)
Physeteridae
sperm whales - (family)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Latimeria menadoensis
Menado coelacanth - (species) D
Latimeria chalumnae
coelacanth - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T (2000)
Adaptive evolution of the African and Indonesian coelacanths to deep-sea environments.
GP00000790
RHO
P08100
Physiology
2 mutations
Teleostei
teleost fishes - (infraclass)
Latimeria menadoensis
Menado coelacanth - (species) D
Latimeria chalumnae
coelacanth - (species) D
opsin - rhodopsin1 (RH1)
Latimeria menadoensis
Menado coelacanth - (species)
Latimeria chalumnae
coelacanth - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Cetacea
whales - (order)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000791
RHO
P08100
Physiology
2 mutations
Mammalia
mammals - (class)
Cetacea
whales - (order)
opsin - rhodopsin1 (RH1)
Cetacea
whales - (order)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (red-shift)
Coding,
SNP
Aristostomias scintillans
shiny loosejaw - (species)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T; Zhang H ; et al. (2008)
Elucidation of phenotypic adaptations: Molecular analyses of dim-light vision proteins in vertebrate[...]
1 Additional References
GP00000792
RHO
P08100
Physiology
D83N; M183F; M253L; F261Y; T289G; S292I; M317I - all together shift to red (see table S4 of Yokoyama PNAS) - individual changes not tested
Stomiidae
barbeled dragonfishes - (family)
Aristostomias scintillans
shiny loosejaw - (species)
opsin - rhodopsin1 (RH1)
Aristostomias scintillans
shiny loosejaw - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (green-shift)
Coding,
SNP
Stomoxys calcitrans
stable fly - (species)
Intraspecific
Candidate Gene
Olafson PU; Aksoy S; Attardo GM ; et al. (2021)
The genome of the stable fly, Stomoxys calcitrans, reveals potential mechanisms underlying reproduct[...]
GP00002535
RHO
P08100
Physiology
Met>Leucine residue present at tuning site 17 which is extremely rare across insect LW opsins. In a survey of over 100 insect LW opsins it was detected only in the two corresponding Rh1 orthologs from M. domestica in addition to one in the distantly related species of thrips (Thysanoptera). The site is residue 17 based on the numbering system developed for butterflies which corresponds to residue 57 in Drosophila Rh1.
Stomoxys calcitrans
stable fly - (species)
Stomoxys calcitrans
stable fly - (species)
opsin - rhodopsin1 (RH1)
Stomoxys calcitrans
stable fly - (species)
Published - Accepted by Curator
opsin - rhodopsin1-A (RH1-A)
Color vision (blue shift)
3 Mutations:
Coding
SNP
Conger myriaster
whitespotted conger - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T; Zhang H ; et al. (2008)
Elucidation of phenotypic adaptations: Molecular analyses of dim-light vision proteins in vertebrate[...]
GP00000793
RHO
P08100
Physiology
3 mutations
Anguilla japonica
Japanese eel - (species)
Conger myriaster
whitespotted conger - (species) D
opsin - rhodopsin1-A (RH1-A)
Conger myriaster
whitespotted conger - (species)
Published - Accepted by Curator
opsin - rhodopsin1-B (RH1-B)
Color vision (blue shift)
Coding,
SNP
Anguilla japonica
Japanese eel - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Takenaka N; Agnew DW ; et al. (2005)
Elephants and human color-blind deuteranopes have identical sets of visual pigments.
1 Additional References
GP00000794
RHO
P08100
Physiology
D83N
Conger myriaster
whitespotted conger - (species)
Anguilla japonica
Japanese eel - (species) D
opsin - rhodopsin1-B (RH1-B)
Anguilla japonica
Japanese eel - (species)
Published - Accepted by Curator
Or22a
Olfaction
Coding,
SNP
Drosophila sechellia
(species) D
Drosophila simulans
(species) D
Drosophila mauritiana
(species) D
Interspecific
Candidate Gene
Auer TO; Khallaf MA; Silbering AF ; et al. (2020)
Olfactory receptor and circuit evolution promote host specialization.
GP00002183
Or22a
P81909
Physiology
Effect of the mutation tested in a Or22a construct which rescues the Or22a knock-down mutation in D. melanogaster.There are two other amino acid changes that may have an effect as well.
Drosophila melanogaster
fruit fly - (species)
Drosophila sechellia
(species) D
Drosophila simulans
(species) D
Drosophila mauritiana
(species) D
Or22a
Drosophila sechellia
(species)
Drosophila simulans
(species)
Drosophila mauritiana
(species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
1 Additional References
GP00000799
OR7D4
Q8NG98
Physiology
P79L
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000800
OR7D4
Q8NG98
Physiology
R227G
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000801
OR7D4
Q8NG98
Physiology
T133M
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000802
OR7D4
Q8NG98
Physiology
S84N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
1 Additional References
GP00000803
OR7D4
Q8NG98
Physiology
R227G
Homininae
(subfamily)
Homo sapiens
human - (species) D
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Zhuang H; Chien MS; Matsunami H (2009)
Dynamic functional evolution of an odorant receptor for sex-steroid-derived odors in primates.
GP00000804
OR7D4
Q8NG98
Physiology
M273T
Homininae
(subfamily)
Homo sapiens
human - (species) D
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
ore
Taste (fruit)
Coding,
SNP
Cucumis sativus
cucumber - (species) D
Intraspecific
Candidate Gene
Qi J; Liu X; Shen D ; et al. (2013)
A genomic variation map provides insights into the genetic basis of cucumber domestication and diver[...]
GP00001390
BCH1
E9JE14
Morphology; Physiology
p.Ala257Asp
Cucumis sativus
cucumber - (species)
Cucumis sativus
cucumber - (species) D
ore
Cucumis sativus
cucumber - (species)
Published - Accepted by Curator
Os07g0603400
Grain size
Grain quality
2 Mutations:
Coding
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Wang Y; Xiong G; Hu J ; et al. (2015)
Copy number variation at the GL7 locus contributes to grain size diversity in rice.
GP00001542
Os07g0603400
A3BLY4
Morphology
Physiology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Os07g0603400
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsC1
Coloration (loss of apiculus color)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Saitoh K; Onishi K; Mikami I ; et al. (2004)
Allelic diversification at the C (OsC1) locus of wild and cultivated rice: nucleotide changes associ[...]
2 Additional References
GP00000805
C
Q76B79
Morphology
10bp deletion N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsC1
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsC1
Coloration (loss of apiculus color)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Saitoh K; Onishi K; Mikami I ; et al. (2004)
Allelic diversification at the C (OsC1) locus of wild and cultivated rice: nucleotide changes associ[...]
2 Additional References
GP00000806
C
Q76B79
Morphology
2bp deletion N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsC1
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsCKX2=Gn1a
Grain yield
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Ashikari M; Sakakibara H; Lin S ; et al. (2005)
Cytokinin oxidase regulates rice grain production.
GP00000807
CKX2
Q4ADV8
Morphology
11bp deletion causing premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsCKX2=Gn1a
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsPPKL1/qGL3
Grain size
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Zhang X; Wang J; Huang J ; et al. (2012)
Rare allele of OsPPKL1 associated with grain length causes extra-large grain and a significant yield[...]
GP00000812
qLTG-3-1
B3IWI0
Morphology
Asp364Glu
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsPPKL1/qGL3
Oryza sativa
rice - (species)
Published - Accepted by Curator
OVATE
Fruit shape
Coding,
SNP
N
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Liu J; Van Eck J; Cong B ; et al. (2002)
A new class of regulatory genes underlying the cause of pear-shaped tomato fruit.
GP00000815
Q8GSM4
Morphology
V164* caused by G>T; which leads to a 75-aa truncation in the C terminus of the predicted protein N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species)
OVATE
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Overdrive
Hybrid incompatibility (male F1 sterility)
Coding,
SNP
Drosophila pseudoobscura
(species)
Intraspecific
Linkage Mapping
Phadnis N; Orr HA (2009)
A single gene causes both male sterility and segregation distortion in Drosophila hybrids.
GP00000816
Ovd
Q2LZF7
Physiology
6 candidate non-synonymous changes - the effect of single amino acid changes has not been tested
Drosophila pseudoobscura
(species)
Drosophila pseudoobscura
(species)
Overdrive
Drosophila pseudoobscura
(species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00000817
LPAR6
P43657
Morphology
at position 69 insertion of 4bp CATG - causes frameshift at codon 24 (PTC +29) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001734
LPAR6
P43657
Morphology
2 deletions - one at position 172-175 delAACT and one at position 177 delG - cause frameshift at codon 58 (PTC +31) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001735
LPAR6
P43657
Morphology
188A>T which causes D63V N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001736
LPAR6
P43657
Morphology
562A>T which causes I188F N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001737
LPAR6
P43657
Morphology
565G>A which causes E189K N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Ranson H; Jensen B; Vulule JM ; et al. (2000)
Identification of a point mutation in the voltage-gated sodium channel gene of Kenyan Anopheles gamb[...]
GP00000818
para
P35500
Physiology
L1014S
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Martinez-Torres D; Chandre F; Williamson MS ; et al. (1998)
Molecular characterization of pyrethroid knockdown resistance (kdr) in the major malaria vector Anop[...]
1 Additional References
GP00000819
para
P35500
Physiology
L1014F
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Jones CM; Liyanapathirana M; Agossa FR ; et al. (2012)
Footprints of positive selection associated with a mutation (N1575Y) in the voltage-gated sodium cha[...]
GP00000820
para
P35500
Physiology
N1575Y
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Wang ZM; Li CX ; et al. (2012)
First report on co-occurrence knockdown resistance mutations and susceptibility to beta-cypermethrin[...]
1 Additional References
GP00000821
para
P35500
Physiology
2 mutations
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Morin S; Williamson MS; Goodson SJ ; et al. (2002)
Mutations in the Bemisia tabaci para sodium channel gene associated with resistance to a pyrethroid [...]
2 Additional References
GP00000822
para
P35500
Physiology
L925I
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
para (kdr)
Bemisia tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Morin S; Williamson MS; Goodson SJ ; et al. (2002)
Mutations in the Bemisia tabaci para sodium channel gene associated with resistance to a pyrethroid [...]
2 Additional References
GP00000823
para
P35500
Physiology
M918V
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
para (kdr)
Bemisia tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Smith TJ; Lee SH; Ingles PJ ; et al. (1997)
The L1014F point mutation in the house fly Vssc1 sodium channel confers knockdown resistance to pyre[...]
2 Additional References
GP00000824
para
P35500
Physiology
L993F (=L1014F)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Liu Z; Valles SM; Dong K (2000)
Novel point mutations in the German cockroach para sodium channel gene are associated with knockdown[...]
2 Additional References
GP00000825
para
P35500
Physiology
C764R (=C785R)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Liu Z; Valles SM; Dong K (2000)
Novel point mutations in the German cockroach para sodium channel gene are associated with knockdown[...]
2 Additional References
GP00000826
para
P35500
Physiology
E434K (=E435K)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
He H; Chen AC; Davey RB ; et al. (1999)
Identification of a point mutation in the para-type sodium channel gene from a pyrethroid-resistant [...]
1 Additional References
GP00000827
para
P35500
Physiology
F1538I
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
para (kdr)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Chen L; Zhong D; Zhang D ; et al. (2010)
Molecular ecology of pyrethroid knockdown resistance in Culex pipiens pallens mosquitoes.
1 Additional References
GP00000828
para
P35500
Physiology
L1014F
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
para (kdr)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Chen L; Zhong D; Zhang D ; et al. (2010)
Molecular ecology of pyrethroid knockdown resistance in Culex pipiens pallens mosquitoes.
GP00000829
para
P35500
Physiology
L1014S
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
para (kdr)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cydia pomonella
codling moth - (species) D
Intraspecific
Candidate Gene
Brun-Barale A; Bouvier JC; Pauron D ; et al. (2005)
Involvement of a sodium channel mutation in pyrethroid resistance in Cydia pomonella L, and developm[...]
1 Additional References
GP00000830
para
P35500
Physiology
L1014F
Cydia pomonella
codling moth - (species)
Cydia pomonella
codling moth - (species) D
para (kdr)
Cydia pomonella
codling moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Guerrero FD; Jamroz RC; Kammlah D ; et al. (1997 Aug-Sep)
Toxicological and molecular characterization of pyrethroid-resistant horn flies, Haematobia irritans[...]
3 Additional References
GP00000831
para
P35500
Physiology
(=M918T)
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
para (kdr)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Guerrero FD; Jamroz RC; Kammlah D ; et al. (1997 Aug-Sep)
Toxicological and molecular characterization of pyrethroid-resistant horn flies, Haematobia irritans[...]
1 Additional References
GP00000832
para
P35500
Physiology
L150F (=L1014F)
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
para (kdr)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Zhao Y; Park Y; Adams ME (2000)
Functional and evolutionary consequences of pyrethroid resistance mutations in S6 transmembrane segm[...]
3 Additional References
GP00000834
para
P35500
Physiology
V421M (=V410M)
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
para (kdr)
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000835
para
P35500
Physiology
V421M (=V410M)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000836
para
P35500
Physiology
L1029H (= L1014H)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000837
para
P35500
Physiology
V421A (=V410A)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000838
para
P35500
Physiology
V421G (=V410G)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Weston DP; Poynton HC; Wellborn GA ; et al. (2013)
Multiple origins of pyrethroid insecticide resistance across the species complex of a nontarget aqua[...]
1 Additional References
GP00000839
para
P35500
Physiology
L925I in species D
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Weston DP; Poynton HC; Wellborn GA ; et al. (2013)
Multiple origins of pyrethroid insecticide resistance across the species complex of a nontarget aqua[...]
1 Additional References
GP00000840
para
P35500
Physiology
M918L - ATG>CTG
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Rinkevich FD; Du Y; Dong K (2013)
Diversity and Convergence of Sodium Channel Mutations Involved in Resistance to Pyrethroids.
1 Additional References
GP00000841
para
P35500
Physiology
2 mutations
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
para (kdr)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Linkage Mapping
Miyazaki M; Ohyama K; Dunlap DY ; et al. (1996)
Cloning and sequencing of the para-type sodium channel gene from susceptible and kdr-resistant Germa[...]
2 Additional References
GP00000842
para
P35500
Physiology
L1014F
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Linkage Mapping
Miyazaki M; Ohyama K; Dunlap DY ; et al. (1996)
Cloning and sequencing of the para-type sodium channel gene from susceptible and kdr-resistant Germa[...]
3 Additional References
GP00000843
para
P35500
Physiology
M918T
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Linkage Mapping
Martinez-Torres D; Foster SP; Field LM ; et al. (1999)
A sodium channel point mutation is associated with resistance to DDT and pyrethroid insecticides in [...]
GP00000844
para
P35500
Physiology
L1014F
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Anstead JA; Williamson MS; Eleftherianos I ; et al. (2004)
High-throughput detection of knockdown resistance in Myzus persicae using allelic discriminating qua[...]
GP00000845
para
P35500
Physiology
(=M918T)
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
3 Mutations:
Coding
SNP
Pediculus humanus
human louse - (species) D
Intraspecific
Candidate Gene
Hodgdon HE; Yoon KS; Previte DJ ; et al. (2010)
Determination of knockdown resistance allele frequencies in global human head louse populations usin[...]
3 Additional References
GP00000846
para
P35500
Physiology
3 mutations
Pediculus humanus
human louse - (species)
Pediculus humanus
human louse - (species) D
para (kdr)
Pediculus humanus
human louse - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Pediculus humanus
human louse - (species) D
Intraspecific
Linkage Mapping
Lee Si Hyeock; Yoon Kyong-Sup; Williamson Martin S ; et al. (2000
)
Molecular analysis of kdr-like resistance in permethrin-resistant strains of head lice, Pediculus ca[...]
GP00000847
para
P35500
Physiology
L932F
Pediculus humanus
human louse - (species)
Pediculus humanus
human louse - (species) D
para (kdr)
Pediculus humanus
human louse - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Sonoda S; Igaki C; Tsumuki H (2008)
Alternatively spliced sodium channel transcripts expressed in field strains of the diamondback moth.
1 Additional References
GP00000848
para
P35500
Physiology
2 mutations
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Linkage Mapping
Usherwood PN; Davies TG; Mellor IR ; et al. (2007)
Mutations in DIIS5 and the DIIS4-S5 linker of Drosophila melanogaster sodium channel define binding [...]
GP00000849
para
P35500
Physiology
T929I
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Triatoma infestans
(species)
Intraspecific
Candidate Gene
Fabro J; Sterkel M; Capriotti N ; et al. (2012)
Identification of a point mutation associated with pyrethroid resistance in the para-type sodium cha[...]
GP00000850
para
P35500
Physiology
L1014F
Triatoma infestans
(species)
Triatoma infestans
(species)
para (kdr)
Triatoma infestans
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000851
para
P35500
Physiology
M918T
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000852
para
P35500
Physiology
T929I
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000853
para
P35500
Physiology
L1014F
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Wang ZM; Li CX ; et al. (2012)
First report on co-occurrence knockdown resistance mutations and susceptibility to beta-cypermethrin[...]
1 Additional References
GP00001689
para
P35500
Physiology
L1014F; Haplotype H02
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species)
Intraspecific
Candidate Gene
Verhaeghen K; Van Bortel W; Trung HD ; et al. (2010)
Knockdown resistance in Anopheles vagus, An. sinensis, An. paraliae and An. peditaeniatus population[...]
1 Additional References
GP00001691
para
P35500
Physiology
L1014S; Haplotype H04
Anopheles sinensis
(species)
Anopheles sinensis
(species)
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles vagus
(species) D
Intraspecific
Candidate Gene
Verhaeghen K; Van Bortel W; Trung HD ; et al. (2010)
Knockdown resistance in Anopheles vagus, An. sinensis, An. paraliae and An. peditaeniatus population[...]
1 Additional References
GP00001692
para
P35500
Physiology
L1014S
Anopheles vagus
(species)
Anopheles vagus
(species) D
para (kdr)
Anopheles vagus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Verhaeghen K; Van Bortel W; Trung HD ; et al. (2010)
Knockdown resistance in Anopheles vagus, An. sinensis, An. paraliae and An. peditaeniatus population[...]
1 Additional References
GP00001695
para
P35500
Physiology
L1014S
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles paraliae
(species)
Intraspecific
Candidate Gene
Verhaeghen K; Van Bortel W; Trung HD ; et al. (2010)
Knockdown resistance in Anopheles vagus, An. sinensis, An. paraliae and An. peditaeniatus population[...]
1 Additional References
GP00001696
para
P35500
Physiology
L1014S
Anopheles paraliae
(species)
Anopheles paraliae
(species)
para (kdr)
Anopheles paraliae
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Wang ZM; Li CX ; et al. (2012)
First report on co-occurrence knockdown resistance mutations and susceptibility to beta-cypermethrin[...]
1 Additional References
GP00001699
para
P35500
Physiology
L1014F; Haplotype H04
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Cimex lectularius
bed bug - (species) D
Intraspecific
Candidate Gene
Yoon KS; Kwon DH; Strycharz JP ; et al. (2008)
Biochemical and molecular analysis of deltamethrin resistance in the common bed bug (Hemiptera: Cimi[...]
4 Additional References
GP00001859
para
P35500
Physiology
2 mutations
Cimex lectularius
bed bug - (species)
Cimex lectularius
bed bug - (species) D
para (kdr)
Cimex lectularius
bed bug - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Varroa destructor
honeybee mite - (species) D
Intraspecific
Candidate Gene
González-Cabrera J; Davies TG; Field LM ; et al. (2013)
An amino acid substitution (L925V) associated with resistance to pyrethroids in Varroa destructor.
1 Additional References
GP00001860
para
P35500
Physiology
L925V
Varroa destructor
honeybee mite - (species)
Varroa destructor
honeybee mite - (species) D
para (kdr)
Varroa destructor
honeybee mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Intraspecific
Candidate Gene
Karatolos N; Gorman K; Williamson MS ; et al. (2012)
Mutations in the sodium channel associated with pyrethroid resistance in the greenhouse whitefly, Tr[...]
1 Additional References
GP00001861
para
P35500
Physiology
M918L - found in samples from China and Europe
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
para (kdr)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Intraspecific
Candidate Gene
Karatolos N; Gorman K; Williamson MS ; et al. (2012)
Mutations in the sodium channel associated with pyrethroid resistance in the greenhouse whitefly, Tr[...]
1 Additional References
GP00001862
para
P35500
Physiology
2 mutations
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
para (kdr)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species)
Intraspecific
Candidate Gene
Major KM; Weston DP; Lydy MJ ; et al. (2018)
Unintentional exposure to terrestrial pesticides drives widespread and predictable evolution of resi[...]
GP00001863
para
P35500
Physiology
M918L - ATG>TTG - conferred by a TTG codon rather than CTG - The M918L TTG and the M918L CTG were both identified in the Chualar Creek (HighPU) population and have also been identified in populations of the green peach aphid M. persicae (Panini et al., 2015).
Hyalella azteca
(species)
Hyalella azteca
(species)
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Major KM; Weston DP; Lydy MJ ; et al. (2018)
Unintentional exposure to terrestrial pesticides drives widespread and predictable evolution of resi[...]
GP00001864
para
P35500
Physiology
L925V
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Panini M; Anaclerio M; Puggioni V ; et al. (2015)
Presence and impact of allelic variations of two alternative s-kdr mutations, M918T and M918L, in th[...]
3 Additional References
GP00001865
para
P35500
Physiology
M918L
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Panini M; Anaclerio M; Puggioni V ; et al. (2015)
Presence and impact of allelic variations of two alternative s-kdr mutations, M918T and M918L, in th[...]
1 Additional References
GP00001866
para
P35500
Physiology
M918L
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Ishak IH; Jaal Z; Ranson H ; et al. (2015)
Contrasting patterns of insecticide resistance and knockdown resistance (kdr) in the dengue vectors [...]
2 Additional References
GP00002444
para
P35500
Physiology
V1016G
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Ishak IH; Jaal Z; Ranson H ; et al. (2015)
Contrasting patterns of insecticide resistance and knockdown resistance (kdr) in the dengue vectors [...]
1 Additional References
GP00002445
para
P35500
Physiology
F1534C
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
3 Mutations:
Coding
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Plernsub S; Saingamsook J; Yanola J ; et al. (2016)
Additive effect of knockdown resistance mutations, S989P, V1016G and F1534C, in a heterozygous genot[...]
1 Additional References
GP00002446
para
P35500
Physiology
3 mutations
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes albopictus
Asian tiger mosquito - (species) D
Intraspecific
Candidate Gene
Kasai S; Ng LC; Lam-Phua SG ; et al. (2011)
First detection of a putative knockdown resistance gene in major mosquito vector, Aedes albopictus.
1 Additional References
GP00002447
para
P35500
Physiology
F1534C
Aedes albopictus
Asian tiger mosquito - (species)
Aedes albopictus
Asian tiger mosquito - (species) D
para (kdr)
Aedes albopictus
Asian tiger mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Phlebotomus argentipes
(species) D
Intraspecific
Candidate Gene
Balaska S; Fotakis EA; Chaskopoulou A ; et al. (2021)
Chemical control and insecticide resistance status of sand fly vectors worldwide.
GP00002469
para
P35500
Physiology
L1014S
Phlebotomus argentipes
(species)
Phlebotomus argentipes
(species) D
para (kdr)
Phlebotomus argentipes
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Phlebotomus argentipes
(species) D
Intraspecific
Candidate Gene
Balaska S; Fotakis EA; Chaskopoulou A ; et al. (2021)
Chemical control and insecticide resistance status of sand fly vectors worldwide.
GP00002470
para
P35500
Physiology
L1014F
Phlebotomus argentipes
(species)
Phlebotomus argentipes
(species) D
para (kdr)
Phlebotomus argentipes
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Candidate Gene
Head DJ; McCaffery AR; Callaghan A (1998)
Novel mutations in the para-homologous sodium channel gene associated with phenotypic expression of [...]
GP00002486
para
P35500
Physiology
2 mutations
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
para (kdr)
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Head DJ; McCaffery AR; Callaghan A (1998)
Novel mutations in the para-homologous sodium channel gene associated with phenotypic expression of [...]
GP00002487
para
P35500
Physiology
2 mutations
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
para (kdr)
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Haddi K; Tomé HVV; Du Y ; et al. (2017)
Detection of a new pyrethroid resistance mutation (V410L) in the sodium channel of Aedes aegypti: a [...]
1 Additional References
GP00002488
para
P35500
Physiology
2 mutations
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Xu Q; Zhang L; Li T ; et al. (2012)
Evolutionary adaptation of the amino acid and codon usage of the mosquito sodium channel following i[...]
GP00002489
para
P35500
Physiology
3 nonsynonymous A(109)S L(982)F and W(1573)R) and 6 synonymous L(852) G(891) A(1241) D(1245) P(1249) and G(1733)) mutations were identified. The co-existence of all 9 mutations and their homozygousity were found to be important factors for high levels of resistance.
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
para (kdr)
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Marshall Kate L; Moran Christopher; Chen Yizhou ; et al. (2012
)
Detection of kdr pyrethroid resistance in the cotton aphid, Aphis gossypii (Hemiptera: Aphididae), u[...]
2 Additional References
GP00002490
para
P35500
Physiology
L1014F
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
para (kdr)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus evansi
red spider mite - (species) D
Intraspecific
Linkage Mapping
Nyoni BN; Gorman K; Mzilahowa T ; et al. (2011)
Pyrethroid resistance in the tomato red spider mite, Tetranychus evansi, is associated with mutation[...]
GP00002493
para
P35500
Physiology
M918T - first report of the M918T mutation in the absence of L1014F in any arthropod species.
Tetranychus evansi
red spider mite - (species)
Tetranychus evansi
red spider mite - (species) D
para (kdr)
Tetranychus evansi
red spider mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Liriomyza huidobrensis
pea leafminer - (species) D
Intraspecific
Candidate Gene
Davies TG; Field LM; Usherwood PN ; et al. (2007)
DDT, pyrethrins, pyrethroids and insect sodium channels.
GP00002494
para
P35500
Physiology
2 mutations
Liriomyza huidobrensis
pea leafminer - (species)
Liriomyza huidobrensis
pea leafminer - (species) D
para (kdr)
Liriomyza huidobrensis
pea leafminer - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Liriomyza sativae
vegetable leafminer - (species) D
Intraspecific
Candidate Gene
Davies TG; Field LM; Usherwood PN ; et al. (2007)
DDT, pyrethrins, pyrethroids and insect sodium channels.
GP00002495
para
P35500
Physiology
L1014F
Liriomyza sativae
vegetable leafminer - (species)
Liriomyza sativae
vegetable leafminer - (species) D
para (kdr)
Liriomyza sativae
vegetable leafminer - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Thrips tabaci
(species) D
Intraspecific
Candidate Gene
Toda S; Morishita M (2009)
Identification of three point mutations on the sodium channel gene in pyrethroid-resistant Thrips ta[...]
GP00002496
para
P35500
Physiology
2 mutations
Thrips tabaci
(species)
Thrips tabaci
(species) D
para (kdr)
Thrips tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Thrips tabaci
(species) D
Intraspecific
Candidate Gene
Toda S; Morishita M (2009)
Identification of three point mutations on the sodium channel gene in pyrethroid-resistant Thrips ta[...]
GP00002497
para
P35500
Physiology
T929I
Thrips tabaci
(species)
Thrips tabaci
(species) D
para (kdr)
Thrips tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Carletto J; Martin T; Vanlerberghe-Masutti F ; et al. (2010)
Insecticide resistance traits differ among and within host races in Aphis gossypii.
GP00002498
para
P35500
Physiology
M918L
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
para (kdr)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Major KM; Weston DP; Lydy MJ ; et al. (2018)
Unintentional exposure to terrestrial pesticides drives widespread and predictable evolution of resi[...]
GP00002499
para
P35500
Physiology
M918L in species B
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Major KM; Weston DP; Lydy MJ ; et al. (2018)
Unintentional exposure to terrestrial pesticides drives widespread and predictable evolution of resi[...]
GP00002500
para
P35500
Physiology
M918L in species C
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Thrips tabaci
(species) D
Intraspecific
Candidate Gene
Wu M; Gotoh H; Waters T ; et al. (2014)
Identification of an alternative knockdown resistance (kdr)-like mutation, M918L, and a novel mutati[...]
1 Additional References
GP00002501
para
P35500
Physiology
2 mutations
Thrips tabaci
(species)
Thrips tabaci
(species) D
para (kdr)
Thrips tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
Morgan JA; Corley SW; Jackson LA ; et al. (2009)
Identification of a mutation in the para-sodium channel gene of the cattle tick Rhipicephalus (Boop[...]
1 Additional References
GP00002502
para
P35500
Physiology
L925I - Cytosine to adenine mutation at position 190 in the R. microplus sequence AF134216 results in an amino acid substitution from leucine in the susceptible strain to isoleucine in the resistant strain. A similar mutation has been shown to confer SP resistance in the whitefly Bemisia tabaci.
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
para (kdr)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Thrips palmi
(species) D
Intraspecific
Candidate Gene
Bao Wen Xue; Sonoda Shoji (2012
)
Resistance to cypermethrin in melon thrips, Thrips palmi (Thysanoptera: Thripidae), is conferred by [...]
GP00002503
para
P35500
Physiology
T929I
Thrips palmi
(species)
Thrips palmi
(species) D
para (kdr)
Thrips palmi
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Rinkevich FD; Du Y; Dong K (2013)
Diversity and Convergence of Sodium Channel Mutations Involved in Resistance to Pyrethroids.
1 Additional References
GP00002504
para
P35500
Physiology
T929I
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
para (kdr)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitophilus zeamais
maize weevil - (species) D
Intraspecific
Candidate Gene
Araújo RA; Williamson MS; Bass C ; et al. (2011)
Pyrethroid resistance in Sitophilus zeamais is associated with a mutation (T929I) in the voltage-gat[...]
1 Additional References
GP00002505
para
P35500
Physiology
T929I
Sitophilus zeamais
maize weevil - (species)
Sitophilus zeamais
maize weevil - (species) D
para (kdr)
Sitophilus zeamais
maize weevil - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Forcioli D; Frey B; Frey JE (2002)
High nucleotide diversity in the para-like voltage-sensitive sodium channel gene sequence in the wes[...]
1 Additional References
GP00002506
para
P35500
Physiology
T929V
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
para (kdr)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Forcioli D; Frey B; Frey JE (2002)
High nucleotide diversity in the para-like voltage-sensitive sodium channel gene sequence in the wes[...]
1 Additional References
GP00002507
para
P35500
Physiology
T929C
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
para (kdr)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Forcioli D; Frey B; Frey JE (2002)
High nucleotide diversity in the para-like voltage-sensitive sodium channel gene sequence in the wes[...]
1 Additional References
GP00002508
para
P35500
Physiology
T929I
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
para (kdr)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Forcioli D; Frey B; Frey JE (2002)
High nucleotide diversity in the para-like voltage-sensitive sodium channel gene sequence in the wes[...]
1 Additional References
GP00002509
para
P35500
Physiology
L1014F
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
para (kdr)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Linkage Mapping
Endersby NM; Viduka K; Baxter SW ; et al. (2011)
Widespread pyrethroid resistance in Australian diamondback moth, Plutella xylostella (L.), is relate[...]
1 Additional References
GP00002510
para
P35500
Physiology
F1020S
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Mavridis K; Papapostolou KM; Ilias A ; et al. (2022)
Next-generation molecular diagnostics (TaqMan qPCR and ddPCR) for monitoring insecticide resistance [...]
2 Additional References
GP00002511
para
P35500
Physiology
T929V
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
para (kdr)
Bemisia tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Ctenocephalides felis
cat flea - (species) D
Intraspecific
Candidate Gene
Bass C; Schroeder I; Turberg A ; et al. (2004)
Identification of mutations associated with pyrethroid resistance in the para-type sodium channel of[...]
1 Additional References
GP00002514
para
P35500
Physiology
T929V
Ctenocephalides felis
cat flea - (species)
Ctenocephalides felis
cat flea - (species) D
para (kdr)
Ctenocephalides felis
cat flea - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Ctenocephalides felis
cat flea - (species) D
Intraspecific
Candidate Gene
Bass C; Schroeder I; Turberg A ; et al. (2004)
Identification of mutations associated with pyrethroid resistance in the para-type sodium channel of[...]
1 Additional References
GP00002515
para
P35500
Physiology
L1014F
Ctenocephalides felis
cat flea - (species)
Ctenocephalides felis
cat flea - (species) D
para (kdr)
Ctenocephalides felis
cat flea - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
Jonsson NN; Cutullè C; Corley SW ; et al. (2010)
Identification of a mutation in the para-sodium channel gene of the cattle tick Rhipicephalus microp[...]
2 Additional References
GP00002516
para
P35500
Physiology
G72V = G933V - G toT non-synonymous mutation at nucleotide position 214 that results in a glycine to valine substitution (G72V)
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
para (kdr)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
1 Additional References
GP00002517
para
P35500
Physiology
I951V = I936V
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Lepeophtheirus salmonis
salmon louse - (species) D
Intraspecific
Candidate Gene
Fallang A; Denholm I; Horsberg TE ; et al. (2005)
Novel point mutation in the sodium channel gene of pyrethroid-resistant sea lice Lepeophtheirus salm[...]
1 Additional References
GP00002518
para
P35500
Physiology
Q945R in transmembrane segment IIS5
Lepeophtheirus salmonis
salmon louse - (species)
Lepeophtheirus salmonis
salmon louse - (species) D
para (kdr)
Lepeophtheirus salmonis
salmon louse - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Brengues C; Hawkes NJ; Chandre F ; et al. (2003)
Pyrethroid and DDT cross-resistance in Aedes aegypti is correlated with novel mutations in the volta[...]
1 Additional References
GP00002519
para
P35500
Physiology
I104M = I1011M
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Saavedra-Rodriguez K; Urdaneta-Marquez L; Rajatileka S ; et al. (2007)
A mutation in the voltage-gated sodium channel gene associated with pyrethroid resistance in Latin A[...]
1 Additional References
GP00002520
para
P35500
Physiology
I1011V
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles stephensi
Asian malaria mosquito - (species) D
Intraspecific
Candidate Gene
Enayati AA; Vatandoost H; Ladonni H ; et al. (2003)
Molecular evidence for a kdr-like pyrethroid resistance mechanism in the malaria vector mosquito Ano[...]
2 Additional References
GP00002521
para
P35500
Physiology
L1014F - one point mutation difference involving a single A-T base change encoding a leucine to phenylalanine amino acid substitution in the pyrethroid-resistant strain.
Anopheles stephensi
Asian malaria mosquito - (species)
Anopheles stephensi
Asian malaria mosquito - (species) D
para (kdr)
Anopheles stephensi
Asian malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles stephensi
Asian malaria mosquito - (species) D
Intraspecific
Candidate Gene
Safi NHZ; Ahmadi AA; Nahzat S ; et al. (2019)
Status of insecticide resistance and its biochemical and molecular mechanisms in Anopheles stephensi[...]
GP00002522
para
P35500
Physiology
L1014S
Anopheles stephensi
Asian malaria mosquito - (species)
Anopheles stephensi
Asian malaria mosquito - (species) D
para (kdr)
Anopheles stephensi
Asian malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles subpictus
(species) D
Intraspecific
Candidate Gene
Karunaratne SHPP; Hawkes Nicola J; Perera MDB ; et al. (2007
)
Mutated sodium channel genes and elevated monooxygenases are found in pyrethroid resistant populatio[...]
1 Additional References
GP00002523
para
P35500
Physiology
L1014F - TTA>TTT
Anopheles subpictus
(species)
Anopheles subpictus
(species) D
para (kdr)
Anopheles subpictus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Xu Q; Liu H; Zhang L ; et al. (2005)
Resistance in the mosquito, Culex quinquefasciatus, and possible mechanisms for resistance.
1 Additional References
GP00002524
para
P35500
Physiology
L1014F
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
para (kdr)
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
D
Intraspecific
Candidate Gene
Rothwell JT; Morgan JA; James PJ ; et al. (2011)
Mechanism of resistance to synthetic pyrethroids in buffalo flies in south-east Queensland.
1 Additional References
GP00002525
para
P35500
Physiology
L1014F
D
para (kdr)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Brassicogethes aeneus
(species)
Intraspecific
Candidate Gene
Nauen Ralf; Zimmer Christoph T; Andrews Melanie ; et al. (2012
)
Target-site resistance to pyrethroids in European populations of pollen beetle, Meligethes aeneus F.[...]
1 Additional References
GP00002526
para
P35500
Physiology
L1014F - found in individuals from Denmark and Sweden
Brassicogethes aeneus
(species)
Brassicogethes aeneus
(species)
para (kdr)
Brassicogethes aeneus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitobion avenae
English grain aphid - (species) D
Intraspecific
Candidate Gene
Foster SP; Paul VL; Slater R ; et al. (2014)
A mutation (L1014F) in the voltage-gated sodium channel of the grain aphid, Sitobion avenae, is asso[...]
1 Additional References
GP00002527
para
P35500
Physiology
L1014F
Sitobion avenae
English grain aphid - (species)
Sitobion avenae
English grain aphid - (species) D
para (kdr)
Sitobion avenae
English grain aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Cassanelli S; Cerchiari B; Giannini S ; et al. (2005)
Use of the RFLP-PCR diagnostic test for characterizing MACE and kdr insecticide resistance in the pe[...]
1 Additional References
GP00002528
para
P35500
Physiology
F979S (housefly numbering) located inside the linker segment IIS5-6
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles arabiensis
(species)
Intraspecific
Candidate Gene
Stump AD; Atieli FK; Vulule JM ; et al. (2004)
Dynamics of the pyrethroid knockdown resistance allele in western Kenyan populations of Anopheles ga[...]
1 Additional References
GP00002529
para
P35500
Physiology
L1014S
Anopheles arabiensis
(species)
Anopheles arabiensis
(species)
para (kdr)
Anopheles arabiensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles culicifacies
(species) D
Intraspecific
Candidate Gene
Singh OP; Dykes CL; Das MK ; et al. (2010)
Presence of two alternative kdr-like mutations, L1014F and L1014S, and a novel mutation, V1010L, in [...]
GP00002530
para
P35500
Physiology
L1014S
Anopheles culicifacies
(species)
Anopheles culicifacies
(species) D
para (kdr)
Anopheles culicifacies
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles culicifacies
(species) D
Intraspecific
Candidate Gene
Singh OP; Bali P; Hemingway J ; et al. (2009)
PCR-based methods for the detection of L1014 kdr mutation in Anopheles culicifacies sensu lato.
GP00002531
para
P35500
Physiology
L1014F
Anopheles culicifacies
(species)
Anopheles culicifacies
(species) D
para (kdr)
Anopheles culicifacies
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sacharovi
(species)
Intraspecific
Candidate Gene
Lüleyap HU; Alptekin D; Kasap H ; et al. (2002)
Detection of knockdown resistance mutations in Anopheles sacharovi (Diptera: Culicidae) and genetic [...]
2 Additional References
GP00002532
para
P35500
Physiology
L1014S
Anopheles sacharovi
(species)
Anopheles sacharovi
(species)
para (kdr)
Anopheles sacharovi
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sacharovi
(species)
Intraspecific
Candidate Gene
Yavaşoglu Sİ; Ülger C; Şimşek FM (2021)
The first implementation of allele-specific primers for detecting the knockdown and acetylcholineste[...]
1 Additional References
GP00002533
para
P35500
Physiology
L1014F
Anopheles sacharovi
(species)
Anopheles sacharovi
(species)
para (kdr)
Anopheles sacharovi
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Stomoxys calcitrans
stable fly - (species) D
Intraspecific
Candidate Gene
Olafson PU; Pitzer JB; Kaufman PE (2011)
Identification of a mutation associated with permethrin resistance in the para-type sodium channel o[...]
2 Additional References
GP00002534
para
P35500
Physiology
L1014H
Stomoxys calcitrans
stable fly - (species)
Stomoxys calcitrans
stable fly - (species) D
para (kdr)
Stomoxys calcitrans
stable fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Kang S; Jung J; Lee S ; et al. (2012)
The polymorphism and the geographical distribution of the knockdown resistance (kdr) of Anopheles si[...]
1 Additional References
GP00002536
para
P35500
Physiology
L1014C
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Lol JC; Castellanos ME; Liebman KA ; et al. (2013)
Molecular evidence for historical presence of knock-down resistance in Anopheles albimanus, a key ma[...]
1 Additional References
GP00002537
para
P35500
Physiology
L1014C in Nicaragua and Costa Rica individuals
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
para (kdr)
Anopheles albimanus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Lol JC; Castellanos ME; Liebman KA ; et al. (2013)
Molecular evidence for historical presence of knock-down resistance in Anopheles albimanus, a key ma[...]
1 Additional References
GP00002538
para
P35500
Physiology
L1014F in Mexico individuals
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
para (kdr)
Anopheles albimanus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Wang ZM; Li CX; Xing D ; et al. (2012)
Detection and widespread distribution of sodium channel alleles characteristic of insecticide resist[...]
1 Additional References
GP00002539
para
P35500
Physiology
L1014C
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
para (kdr)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Li CX; Wang ZM ; et al. (2012)
First detection of multiple knockdown resistance (kdr)-like mutations in voltage-gated sodium channe[...]
1 Additional References
GP00002540
para
P35500
Physiology
L1014W
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Pridgeon Julia W; Appel Arthur G; Moar William J ; et al. (2002
)
Variability of resistance mechanisms in pyrethroid resistant German cockroaches (Dictyoptera: Blatte[...]
1 Additional References
GP00002541
para
P35500
Physiology
F999S = F1020S - T to C at nt 2996 resulting in a phenylalanine999 to serine999 amino acid change
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Kwon Deok Ho; Clark J Marshall; Lee Si Hyeock (2010
)
Cloning of a sodium channel gene and identification of mutations putatively associated with fenpropa[...]
1 Additional References
GP00002542
para
P35500
Physiology
L1024V
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
para (kdr)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Pittendrigh B; Reenan R; ffrench-Constant RH ; et al. (1997)
Point mutations in the Drosophila sodium channel gene para associated with resistance to DDT and pyr[...]
1 Additional References
GP00002543
para
P35500
Physiology
A1549V = A1410V
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
para (kdr)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Pittendrigh B; Reenan R; ffrench-Constant RH ; et al. (1997)
Point mutations in the Drosophila sodium channel gene para associated with resistance to DDT and pyr[...]
1 Additional References
GP00002544
para
P35500
Physiology
A1648V = A1494V
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
para (kdr)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Kawada H; Higa Y; Komagata O ; et al. (2009)
Widespread distribution of a newly found point mutation in voltage-gated sodium channel in pyrethroi[...]
1 Additional References
GP00002545
para
P35500
Physiology
F1269C = F1534C
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus cinnabarinus
carmine spider mite - (species) D
Intraspecific
Candidate Gene
Feng YN; Zhao S; Sun W ; et al. (2011)
The sodium channel gene in Tetranychus cinnabarinus (Boisduval): identification and expression analy[...]
1 Additional References
GP00002546
para
P35500
Physiology
F1538I
Tetranychus cinnabarinus
carmine spider mite - (species)
Tetranychus cinnabarinus
carmine spider mite - (species) D
para (kdr)
Tetranychus cinnabarinus
carmine spider mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Tsagkarakou A; Van Leeuwen T; Khajehali J ; et al. (2009)
Identification of pyrethroid resistance associated mutations in the para sodium channel of the two-s[...]
1 Additional References
GP00002547
para
P35500
Physiology
F1538I
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
para (kdr)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Pittendrigh B; Reenan R; ffrench-Constant RH ; et al. (1997)
Point mutations in the Drosophila sodium channel gene para associated with resistance to DDT and pyr[...]
1 Additional References
GP00002548
para
P35500
Physiology
M1524I
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
para (kdr)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Varroa destructor
honeybee mite - (species) D
Intraspecific
Candidate Gene
Hubert J; Nesvorna M; Kamler M ; et al. (2014)
Point mutations in the sodium channel gene conferring tau-fluvalinate resistance in Varroa destructo[...]
GP00002549
para
P35500
Physiology
F975L
Varroa destructor
honeybee mite - (species)
Varroa destructor
honeybee mite - (species) D
para (kdr)
Varroa destructor
honeybee mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Varroa destructor
honeybee mite - (species) D
Intraspecific
Candidate Gene
Wang Ruiwu; Liu Zhiqi; Dong Ke ; et al. (2002
)
Association of novel mutations in a sodium channel gene with fluvalinate resistance in the mite, Var[...]
1 Additional References
GP00002550
para
P35500
Physiology
F1528L+M1823I
Varroa destructor
honeybee mite - (species)
Varroa destructor
honeybee mite - (species) D
para (kdr)
Varroa destructor
honeybee mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Varroa destructor
honeybee mite - (species) D
Intraspecific
Candidate Gene
Wang Ruiwu; Liu Zhiqi; Dong Ke ; et al. (2002
)
Association of novel mutations in a sodium channel gene with fluvalinate resistance in the mite, Var[...]
GP00002551
para
P35500
Physiology
F758L+L826P+I982V+M1055I = F1528L+L1596P+I1752V+M1823I
Varroa destructor
honeybee mite - (species)
Varroa destructor
honeybee mite - (species) D
para (kdr)
Varroa destructor
honeybee mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Stomoxys calcitrans
stable fly - (species) D
Intraspecific
Candidate Gene
Olafson PU; Kaufman PE; Duvallet G ; et al. (2019)
Frequency of kdr and kdr-his Alleles in Stable Fly (Diptera: Muscidae) Populations From the United S[...]
GP00002613
para
P35500
Physiology
L1014F
Stomoxys calcitrans
stable fly - (species)
Stomoxys calcitrans
stable fly - (species) D
para (kdr)
Stomoxys calcitrans
stable fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Singh KS; Cordeiro EMG; Troczka BJ ; et al. (2021)
Global patterns in genomic diversity underpinning the evolution of insecticide resistance in the aph[...]
1 Additional References
GP00002614
para
P35500
Physiology
M918I ATG>ATT
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Singh KS; Cordeiro EMG; Troczka BJ ; et al. (2021)
Global patterns in genomic diversity underpinning the evolution of insecticide resistance in the aph[...]
1 Additional References
GP00002615
para
P35500
Physiology
M918I ATG>ATA
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Kushwah RBS; Kaur T; Dykes CL ; et al. (2020)
A new knockdown resistance (kdr) mutation, F1534L, in the voltage-gated sodium channel of Aedes aegy[...]
GP00002625
para
P35500
Physiology
F1534L - Phe (TTC) > Leu (CTC)
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Wang XL; Su W; Zhang JH ; et al. (2016)
Two novel sodium channel mutations associated with resistance to indoxacarb and metaflumizone in the[...]
1 Additional References
GP00002629
para
P35500
Physiology
F1845Y
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Wang XL; Su W; Zhang JH ; et al. (2016)
Two novel sodium channel mutations associated with resistance to indoxacarb and metaflumizone in the[...]
1 Additional References
GP00002630
para
P35500
Physiology
V1848I
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Roditakis E; Mavridis K; Riga M ; et al. (2017)
Identification and detection of indoxacarb resistance mutations in the para sodium channel of the to[...]
1 Additional References
GP00002631
para
P35500
Physiology
V1848I
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Roditakis E; Mavridis K; Riga M ; et al. (2017)
Identification and detection of indoxacarb resistance mutations in the para sodium channel of the to[...]
1 Additional References
GP00002632
para
P35500
Physiology
F1845Y
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Sun H; Kasai S; Scott JG (2017)
Two novel house fly Vssc mutations, D600N and T929I, give rise to new insecticide resistance alleles[...]
GP00002644
para
P35500
Physiology
super-kdr+D600N - super-kdr+D600N confers higher levels of resistance to seven pyrethroids relative to super-kdr.
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Sun H; Kasai S; Scott JG (2017)
Two novel house fly Vssc mutations, D600N and T929I, give rise to new insecticide resistance alleles[...]
GP00002645
para
P35500
Physiology
kdr+T929I - addition of T929I to the kdr mutation (L1014F) increased resistance to all pyrethroids (except etofenprox) and enhanced resistance by ~1000-fold to acrinathrin and flumethrin.
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes albopictus
Asian tiger mosquito - (species) D
Intraspecific
Candidate Gene
Wu Y; Liu Q; Qi Y ; et al. (2021)
Knockdown Resistance (kdr) Mutations I1532T and F1534S Were Identified in Aedes albopictus Field Pop[...]
GP00002646
para
P35500
Physiology
F1534S
Aedes albopictus
Asian tiger mosquito - (species)
Aedes albopictus
Asian tiger mosquito - (species) D
para (kdr)
Aedes albopictus
Asian tiger mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes albopictus
Asian tiger mosquito - (species) D
Intraspecific
Candidate Gene
Wu Y; Liu Q; Qi Y ; et al. (2021)
Knockdown Resistance (kdr) Mutations I1532T and F1534S Were Identified in Aedes albopictus Field Pop[...]
GP00002647
para
P35500
Physiology
I1532T
Aedes albopictus
Asian tiger mosquito - (species)
Aedes albopictus
Asian tiger mosquito - (species) D
para (kdr)
Aedes albopictus
Asian tiger mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Fontaine S; Caddoux L; Brazier C ; et al. (2011)
Uncommon associations in target resistance among French populations of Myzus persicae from oilseed r[...]
1 Additional References
GP00002649
para
P35500
Physiology
L932F
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
Pax3
Coloration (white-spotting ; leucism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00002252
PAX3
P23760
Morphology
c.209G>A p.C70Y
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Pax3
Equus caballus
horse - (species)
Published - Accepted by Curator
Pax3
Coloration (white-spotting ; leucism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002253
PAX3
P23760
Morphology
c.95C>G p.Pro32Arg
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Pax3
Equus caballus
horse - (species)
Published - Accepted by Curator
peel-1
Hybrid incompatibility
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Seidel HS; Ailion M; Li J ; et al. (2011)
A novel sperm-delivered toxin causes late-stage embryo lethality and transmission ratio distortion i[...]
1 Additional References
GP00001321
peel-1
G5EGC6
Physiology
1bp deletion creating a frameshift starting at amino acid position 43. Total length of wild-type protein is 174 amino acids. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
peel-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
peel-1
Hybrid incompatibility
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Seidel HS; Ailion M; Li J ; et al. (2011)
A novel sperm-delivered toxin causes late-stage embryo lethality and transmission ratio distortion i[...]
1 Additional References
GP00001322
peel-1
G5EGC6
Physiology
G>T - glycine to stop codon at position 57. Total length of wild-type protein is 174 amino acids. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
peel-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
PEPT1
Anti-freezing
Coding,
Unknown
Chionodraco hamatus
Antarctic icefish - (species)
Intergeneric or Higher
Candidate Gene
Rizzello A; Romano A; Kottra G ; et al. (2013)
Protein cold adaptation strategy via a unique seven-amino acid domain in the icefish (Chionodraco ha[...]
GP00000858
slc15a1
Q804I3
Physiology
C-terminal (cytosolic) de novo VDMSRKS domain conferring cold resistance
Teleostei
teleost fishes - (infraclass)
Chionodraco hamatus
Antarctic icefish - (species)
PEPT1
Chionodraco hamatus
Antarctic icefish - (species)
Published - Accepted by Curator
PER36
Mucilage (seeds)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Macquet A; Ralet MC; Loudet O ; et al. (2007)
A naturally occurring mutation in an Arabidopsis accession affects a beta-D-galactosidase that incre[...]
1 Additional References
GP00001273
PER36
Q9SD46
Physiology
Tyrosine @position 262bp to a stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
PER36
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Period (per)
Courtship song
Coding,
SNP
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Wheeler DA; Kyriacou CP; Greenacre ML ; et al. (1991)
Molecular transfer of a species-specific behavior from Drosophila simulans to Drosophila melanogaste[...]
3 Additional References
GP00000860
per
P07663
Behavior
A121T and/or K125R and/or E165D and /or V224A
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Period (per)
Drosophila simulans
(species)
Published - Accepted by Curator
Period (per)
Locomotor activity (temperature sensitivity)
Coding,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Sawyer LA; Hennessy JM; Peixoto AA ; et al. (1997)
Natural variation in a Drosophila clock gene and temperature compensation.
GP00002002
per
P07663
Behavior
repeat (Thr-Gly) either 17 times or 20 times within the protein coding sequence
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Period (per)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
PG
Fruit ripening
Coding,
Deletion
N
Capsicum annuum
(species) D
Domesticated
Candidate Gene
Kim S; Park M; Yeom SI ; et al. (2014)
Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum speci[...]
GP00001448
PG
B9VRK6
Physiology
a partial deletion of about 90aa in the C-terminal region N
Solanum lycopersicum
tomato - (species)
Capsicum annuum
(species) D
PG
Capsicum annuum
(species)
Published - Accepted by Curator
PG
Fruit ripening
Coding,
SNP
N
Capsicum chinense
(species) D
Domesticated
Candidate Gene
Kim S; Park M; Yeom SI ; et al. (2014)
Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum speci[...]
GP00001449
PG
B9VRK6
Physiology
a point mutation in the 3' splice acceptor site of intron VIII generates a premature stop codon N
Solanum lycopersicum
tomato - (species)
Capsicum chinense
(species) D
PG
Capsicum chinense
(species)
Published - Accepted by Curator
PH4/GmMYB-G20-1
Coloration (flowers)
Coding,
SNP
N
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Takahashi R; Benitez ER; Oyoo ME ; et al. (2011 Jul-Aug)
Nonsense mutation of an MYB transcription factor is associated with purple-blue flower color in soyb[...]
GP00000862
PH4
Q2TCH0
Morphology
Substitution creating premature Stop (codon 158) N
Glycine max
soybean - (species)
Glycine max
soybean - (species)
PH4/GmMYB-G20-1
Glycine max
soybean - (species)
Published - Accepted by Curator
PHO84
Xenobiotic resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Perlstein EO; Ruderfer DM; Roberts DC ; et al. (2007)
Genetic basis of individual differences in the response to small-molecule drugs in yeast.
GP00000865
PHO84
P25297
Physiology
L259P
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO84
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Phosphate transporter PHO1
Root growth (allometry of lateral roots)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Rosas U; Cibrian-Jaramillo A; Ristova D ; et al. (2013)
Integration of responses within and across Arabidopsis natural accessions uncovers loci controlling [...]
GP00001284
PHO1
Q8S403
Morphology
histidine to tyrosine @position 8388425 in chromosome III
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Phosphate transporter PHO1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
Coding,
SNP
Alloteropsis
(genus)
Interspecific
Candidate Gene
Christin PA; Edwards EJ; Besnard G ; et al. (2012)
Adaptive evolution of C(4) photosynthesis through recurrent lateral gene transfer.
GP00000866
PPCA
P30694
Physiology
Haplotype of several candidate a.a. ; lateral gene transfer between convergent C4 species
Alloteropsis
(genus)
Alloteropsis
(genus)
phosphoenolpyruvate carboxylase (PEPC)
Alloteropsis
(genus)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
2 Mutations:
Coding
SNP
N
Flaveria trinervia
(species)
Interspecific
Candidate Gene
Bläsing OE; Westhoff P; Svensson P (2000)
Evolution of C4 phosphoenolpyruvate carboxylase in Flaveria, a conserved serine residue in the carbo[...]
1 Additional References
GP00000867
PPCA
P30694
Physiology
2 mutations
Flaveria pringlei
(species)
Flaveria trinervia
(species)
phosphoenolpyruvate carboxylase (PEPC)
Flaveria trinervia
(species)
Published - Accepted by Curator
phytochrome A (PHYA)
Light sensitivity
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Maloof JN; Borevitz JO; Dabi T ; et al. (2001)
Natural variation in light sensitivity of Arabidopsis.
GP00000870
PHYA
P14712
Physiology
M548T
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
phytochrome A (PHYA)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytochrome A (PHYA)
Light sensitivity
High-altitude adaptation
Coding,
Insertion
N
Glycine max
soybean - (species) D
Domesticated
Candidate Gene
Liu B; Kanazawa A; Matsumura H ; et al. (2008)
Genetic redundancy in soybean photoresponses associated with duplication of the phytochrome A gene.
1 Additional References
GP00002104
PHYA
P14712
Physiology
Physiology
insertion of a retrotransposon in exon 1 - The transposable element is SORE-1 = a novel Ty1/copia-like retrotransposon in soybean N
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
phytochrome A (PHYA)
Glycine max
soybean - (species)
Published - Accepted by Curator
phytochrome A-associated F-box protein
Circadian rhythm (phase)
Coding,
Deletion
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Müller NA; Wijnen CL; Srinivasan A ; et al. (2016)
Domestication selected for deceleration of the circadian clock in cultivated tomato.
GP00001287
101247753
K4CV85
Physiology
3bp deletion in CDS causing a 'K (lysine) loss in the highly conserved C terminus of EID1
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species) D
phytochrome A-associated F-box protein
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
phytochrome B (PHYB)
Light sensitivity
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Filiault DL; Wessinger CA; Dinneny JR ; et al. (2008)
Amino acid polymorphisms in Arabidopsis phytochrome B cause differential responses to light.
GP00000871
PHYB
P14713
Physiology
I143L
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
phytochrome B (PHYB)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytochrome B (PHYB)
Light sensitivity
Coding,
Deletion
Sorghum bicolor
sorghum - (species) D
Domesticated
Linkage Mapping
Childs KL; Miller FR; Cordonnier-Pratt MM ; et al. (1997)
The sorghum photoperiod sensitivity gene, Ma3, encodes a phytochrome B.
GP00000872
PHYB
P14713
Physiology
1bp deletion 30bp upstream of the stop codon
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species) D
phytochrome B (PHYB)
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
phytochrome C (PHYC)
Light sensitivity
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Balasubramanian S; Sureshkumar S; Agrawal M ; et al. (2006)
The PHYTOCHROME C photoreceptor gene mediates natural variation in flowering and growth responses of[...]
GP00000873
PHYC
P14714
Physiology
K299*; the predicted Fr-2 PHYC protein therefore lacks half of the GAF domain; and the entire PHY; PAS and histidine kinase domains; all of which are typically required for phytochrome function N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
phytochrome C (PHYC)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytochrome D (PHYD)
Leaf morphology (increased petiole length)
Cotyledon morphology (reduced cotyledon area)
Coloration (anthocyanin accumulation in seedling stems)
Plant size (diminished effect of end-of-day pulse of far red light on hypocotyl elongation)
Plant architecture (decrease in number of rosette leaves at onset of flowering)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Aukerman MJ; Hirschfeld M; Wester L ; et al. (1997)
A deletion in the PHYD gene of the Arabidopsis Wassilewskija ecotype defines a role for phytochrome [...]
GP00000874
PHYD
P42497
Morphology
Morphology
Morphology
Physiology
Morphology
14bp deletion causing premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
phytochrome D (PHYD)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytoene synthase
Carotenoid content (fruit)
Coding,
Insertion
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Fray RG; Grierson D (1993)
Identification and genetic analysis of normal and mutant phytoene synthase genes of tomato by sequen[...]
1 Additional References
GP00001718
PSY1
P49085
Physiology
insertion of a Rider transposable element within the coding region N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
phytoene synthase
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
phytoene synthase
Carotenoid content (fruit)
Coding,
Indel
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Fray RG; Grierson D (1993)
Identification and genetic analysis of normal and mutant phytoene synthase genes of tomato by sequen[...]
1 Additional References
GP00001719
PSY1
P49085
Physiology
r y cDNA was found to be mutated at its 3' end, lacking the last 237 bases of PSY1 coding sequence and containing 185 nucleotides of an unrelated sequence in its place N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
phytoene synthase
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Pi-ta
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Bryan GT; Wu KS; Farrall L ; et al. (2000)
tA single amino acid difference distinguishes resistant and susceptible alleles of the rice blast re[...]
2 Additional References
GP00000876
Pi-ta
C9E6G5
Physiology
Ala918Ser
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi-ta
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi2 (Nbs4-Pi2)
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Zhou B; Qu S; Liu G ; et al. (2006)
The eight amino-acid differences within three leucine-rich repeats between Pi2 and Piz-t resistance [...]
GP00000877
PI2
M1EC06
Physiology
eight amino acid changes - exact causing change(s) unknown
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi2 (Nbs4-Pi2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi36
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Liu X; Lin F; Wang L ; et al. (2007)
The in silico map-based cloning of Pi36, a rice coiled-coil nucleotide-binding site leucine-rich rep[...]
GP00000878
Pi36
D5J6W0
Physiology
Asp590Ser
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi36
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi37
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Lin F; Chen S; Que Z ; et al. (2007)
The blast resistance gene Pi37 encodes a nucleotide binding site leucine-rich repeat protein and is [...]
GP00000879
Pi37
Q06AJ9
Physiology
V239A and I247M are the only amino acid substitutions found in all tested resistant strains- the effect of each individual amino acid change has not been tested
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi37
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi5-1 + Pi5-2 cluster
Pathogen resistance
Coding,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Lee SK; Song MY; Seo YS ; et al. (2009)
Rice Pi5-mediated resistance to Magnaporthe oryzae requires the presence of two coiled-coil-nucleoti[...]
GP00000880
Pi5-1
C3SBK3
Physiology
In genetic transformation experiments of a susceptible rice cultivar neither the Pi5-1 nor the Pi5-2 gene was found to confer resistance to M. oryzae. In contrast transgenic rice plants expressing both of these genes (generated by crossing transgenic lines carrying each gene individually) conferred Pi5-mediated resistance to M. oryzae
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi5-1 + Pi5-2 cluster
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi9 (= Nbs2-Pi9)
Pathogen resistance
Coding,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Qu S; Liu G; Zhou B ; et al. (2006)
The broad-spectrum blast resistance gene Pi9 encodes a nucleotide-binding site-leucine-rich repeat p[...]
GP00000881
Pi9
Q1WGB0
Physiology
Coding variation; necessary for resistance in completementation assay
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi9 (= Nbs2-Pi9)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pid3
Pathogen resistance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Chen J; Shi Y; Liu W ; et al. (2011)
A Pid3 allele from rice cultivar Gumei2 confers resistance to Magnaporthe oryzae.
GP00000883
Pid3
C0LMX9
Physiology
1bp deletion resulting in truncated protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Pid3
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pikm1-TS + Pikm2-TS cluster
Pathogen resistance
Coding,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ashikawa I; Hayashi N; Yamane H ; et al. (2008)
Two adjacent nucleotide-binding site-leucine-rich repeat class genes are required to confer Pikm-spe[...]
1 Additional References
GP00000884
PIKM1-TS
B5UBC1
Physiology
Coding variation in both genes; with alleles of both genes necessary for resistance in completementation assays
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pikm1-TS + Pikm2-TS cluster
Oryza sativa
rice - (species)
Published - Accepted by Curator
Piz-t
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Zhou B; Qu S; Liu G ; et al. (2006)
The eight amino-acid differences within three leucine-rich repeats between Pi2 and Piz-t resistance [...]
GP00000895
Piz-t
Q0H213
Physiology
Coding variation in the LRR domain
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Piz-t
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pl6
Pathogen resistance
Coding,
Unknown
Helianthus annuus
common sunflower - (species) D
Domesticated
Linkage Mapping
Franchel J; Bouzidi MF; Bronner G ; et al. (2013)
Positional cloning of a candidate gene for resistance to the sunflower downy mildew, Plasmopara hals[...]
GP00000896
F8R6K4
Physiology
unknown ; cluster of several R-protein coding genes; of which only one is expressed
Helianthus annuus
common sunflower - (species)
Helianthus annuus
common sunflower - (species) D
Pl6
Helianthus annuus
common sunflower - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001300
PMA1
P05030
Physiology
A>T (Phe > Ile) @ position 1831
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001301
PMA1
P05030
Physiology
T>G (Thr > Pro) @ position 2197
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001302
PMA1
P05030
Physiology
G>T (Ala > Asp) @ position 2204
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
plep-1
Male-male copulatory behavior
Coding,
SNP
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Noble LM; Chang AS; McNelis D ; et al. (2015)
Natural Variation in plep-1 Causes Male-Male Copulatory Behavior in C. elegans.
GP00000897
plep-1
A0A0K3AR66
Behavior
V278D
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
plep-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
plg-1
Copulatory plug
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Palopoli MF; Rockman MV; TinMaung A ; et al. (2008)
Molecular basis of the copulatory plug polymorphism in Caenorhabditis elegans.
GP00000898
Physiology
insertion of transposable element in an exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
plg-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Pm3
Pathogen resistance
Coding,
SNP
Triticum aestivum
bread wheat - (species)
Intraspecific
Linkage Mapping
Yahiaoui N; Kaur N; Keller B (2009)
Independent evolution of functional Pm3 resistance genes in wild tetraploid wheat and domesticated b[...]
1 Additional References
GP00000899
PM3
C1K3M2
Physiology
Various substitution haplotypes - exact causing amino acid change(s) unknown - in hexaploid bread wheat one amino acid change in a solvent‐exposed residue of LRR27 (E1334 to V1334) was sufficient to convert the susceptible Pm3CS into a functional resistance allele (Yahiaoui et al., 2006).
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Pm3
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
2 Additional References
GP00000900
PMA1
P05030
Physiology
Leu363Trp
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
2 Additional References
GP00000901
PMA1
P05030
Physiology
Ser234Cys
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000902
PMA1
P05030
Physiology
Val127Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000903
PMA1
P05030
Physiology
Val157Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000904
PMA1
P05030
Physiology
Gly294Val
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000905
PMA1
P05030
Physiology
Gly337Ser
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000906
PMA1
P05030
Physiology
Met530Ile
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000907
PMA1
P05030
Physiology
Pro535Thr
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000908
PMA1
P05030
Physiology
Iso564Thr
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000909
PMA1
P05030
Physiology
Ala732Val
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000910
PMA1
P05030
Physiology
Trp750Cys
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMEI6
Mucilage (seeds)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
1 Additional References
GP00001272
AXX17_At2g45450
A0A178VVA1
Physiology
frameshift mutation due to a 1-bp insertion 581 bp after the ATG codon that changed amino acids 194 to 205 followed by the introduction of a stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
PMEI6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000911
PMEL
Q98917
Morphology
deletion of amino acids 731-735
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000912
PMEL
Q98917
Morphology
deletion of amino acids 280-284
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000913
PMEL
Q98917
Morphology
insertion of amino acid 723-725 due to a 9bp-insert in exon 10
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
Deletion
Bos grunniens
domestic yak - (species) D
Domesticated
Candidate Gene
Zhang MQ; Xu X; Luo SJ (2014)
The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).
GP00001365
PMEL
P40967
Morphology
c.50_52del p.Leu18del in signal peptide
Bos grunniens
domestic yak - (species)
Bos grunniens
domestic yak - (species) D
PMEL17
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Gutiérrez-Gil B; Wiener P; Williams JL (2007)
Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-B[...]
GP00002027
PMEL
Q06154
Morphology
g.57669926G>A c.64G>A p.Gly22Arg
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
PMEL17
Bos taurus
cattle - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
Deletion
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
Domesticated
Candidate Gene
Jolly RD; Wills JL; Kenny JE ; et al. (2008)
Coat-colour dilution and hypotrichosis in Hereford crossbred calves.
GP00002028
PMEL
Q06154
Morphology
3bp deletion - g.57669913_57669915delTTC - c.50_52delTTC - p.Leu19del
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
PMEL17
Bos taurus
cattle - (species)
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
Insertion
Mus musculus
house mouse - (species) D
Domesticated
Linkage Mapping
Kwon BS; Halaban R; Ponnazhagan S ; et al. (1995)
Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pme[...]
GP00002101
Pmel
Q60696
Morphology
single nucleotide (A) insertion in the putative cytoplasmic tail of the si/si Pmel 17 cDNA clone. This insertion is predicted to alter the last 24 amino acids at the C-terminus. Also predicted is the extension of the Pmel 17 protein by 12 residues because a new termination signal is created downstream from the wild-type reading frame. The silver pmel 17 protein has a major defect at the carboxyl terminus.
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
PMEL17
Mus musculus
house mouse - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Brunberg E; Andersson L; Cothran G ; et al. (2006)
A missense mutation in PMEL17 is associated with the Silver coat color in the horse.
4 Additional References
GP00002271
Pmel
Q60696
Morphology
g.73665304C>T p.R625C
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
PMEL17
Equus caballus
horse - (species)
Published - Accepted by Curator
PMR1
Metal tolerance (manganese)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Sadhu MJ; Bloom JS; Day L ; et al. (2016)
CRISPR-directed mitotic recombination enables genetic mapping without crosses.
GP00000914
PMR1
P13586
Physiology
Leu548Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMR1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
poils au dos (pad)
Bristle number (thorax)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Gibert JM; Marcellini S; David JR ; et al. (2005)
A major bristle QTL from a selected population of Drosophila uncovers the zinc-finger transcription [...]
GP00000915
pad
Q9VEW6
Morphology
29bp deletion N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
poils au dos (pad)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
pot-2
Telomere length
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Cook DE; Zdraljevic S; Tanny RE ; et al. (2016)
The Genetic Basis of Natural Variation in Caenorhabditis elegans Telomere Length.
GP00001317
pot-2
O45595
Physiology
Phenylalanine-to-isoleucine (F68I) N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
pot-2
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Potassium channel subfamily K
Fin morphology (skeleton; dorsal fin; caudal fin; tail; paired fin)
Coding,
SNP
N
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002348
KCNK5
O95279
Morphology
Substitution of a hydrophobic amino acid (valine) with a hydrophilic amino acid (glutamic acid) appears to cause a critical alteration of channel gating. In total there are five amino acid substitutions or deletions in kcnk5bS in goldfish with the long-tail phenotype. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Potassium channel subfamily K
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
PPAR-delta
Ear size
Skin aspect
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Ren J; Duan Y; Qiao R ; et al. (2011)
A missense mutation in PPARD causes a major QTL effect on ear size in pigs.
GP00000919
PPARD
Q03181
Morphology
Morphology
G32E
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
PPAR-delta
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
PpeGID1c
Plant size (dwarfism)
Coding,
SNP
N
Prunus persica
peach - (species) D
Domesticated
Linkage Mapping
Hollender CA; Hadiarto T; Srinivasan C ; et al. (2016)
A brachytic dwarfism trait (dw) in peach trees is caused by a nonsense mutation within the gibberell[...]
GP00000920
GID1C
Q940G6
Morphology
Trp162* (TGG>TAG) N
Prunus persica
peach - (species)
Prunus persica
peach - (species) D
PpeGID1c
Prunus persica
peach - (species)
Published - Accepted by Curator
ppw-1
Resistance to dsRNA
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Tijsterman M; Okihara KL; Thijssen K ; et al. (2002)
PPW-1, a PAZ/PIWI protein required for efficient germline RNAi, is defective in a natural isolate of[...]
GP00000921
Physiology
1bp deletion resulting in stop codon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
ppw-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
PRDM9
Recombination rate (male)
Coding,
Deletion
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001640
PRDM9
A6QNW2
Physiology
variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: 22 domains > 20 domains decreasing 6-fold Genome wide hot window usage in Crossing Over
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PRDM9
Bos taurus
cattle - (species)
Published - Accepted by Curator
PRDM9
Recombination rate (male)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001641
PRDM9
A6QNW2
Physiology
variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: T68A p.I23K in domain 11 has a major effect. K allele decreasing 30-fold Genome wide hot window usage in Crossing Over compared to I allele
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PRDM9
Bos taurus
cattle - (species)
Published - Accepted by Curator
PRDM9
Recombination rate (male)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001642
PRDM9
A6QNW2
Physiology
variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: T20C p.A>Y sustitutions in domains 14. Y allele increasing 6-fold Genome wide hot window usage in Crossing Over
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PRDM9
Bos taurus
cattle - (species)
Published - Accepted by Curator
PRKG2
Body size (dwarfism)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Koltes JE; Mishra BP; Kumar D ; et al. (2009)
A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Ang[...]
GP00002273
PRKG2
Q13237
Morphology
c.1573C>T p.R525* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
PRKG2
Bos taurus
cattle - (species)
Published - Accepted by Curator
PRKG2
Body size (dwarfism)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Koltes JE; Mishra BP; Kumar D ; et al. (2009)
A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Ang[...]
GP00002274
PRKG2
Q13237
Morphology
c.2032C>T p.R678* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
PRKG2
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin
Hair length (long)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Littlejohn MD; Henty KM; Tiplady K ; et al. (2014)
Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.
GP00002032
PRL
P01239
Morphology
g.35105313A>C - c.661A>C - p.C221G
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Prolactin
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin
Hair length (short)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Littlejohn MD; Henty KM; Tiplady K ; et al. (2014)
Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.
GP00002033
PRL
P01239
Morphology
1-bp deletion in exon 10 that introduces a premature stop codon (p.Leu462*) and loss of 120 C-terminal amino acids from the long isoform of the receptor (ss1067289408; chr20:39136558GC>G) N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Prolactin
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin receptor
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Candidate Gene
Viitala S; Szyda J; Blott S ; et al. (2006)
The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...]
GP00000927
PRLR
P16471
Physiology
Ser18Asn
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
Prolactin receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin receptor
Feather (slow-feathering ; delay)
Coding,
Deletion
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Association Mapping
Derks MFL; Herrero-Medrano JM; Crooijmans RPMA ; et al. (2018)
Early and late feathering in turkey and chicken: same gene but different mutations.
GP00002281
PRLR
P16471
Morphology
g.9426018_9426022delTTGGT p.Glu726Aspfs*7 truncated PRLR protein that lacks 98 C-terminal AA ; this truncated PRLR protein is strikingly similar to the protein encoded by the slow feathering K allele in chicken
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
Prolactin receptor
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
Prolactin receptor
Hair (slick ; short ; thermotolerance)
Thermoregulation (tolerance to warm climate)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Littlejohn MD; Henty KM; Tiplady K ; et al. (2014)
Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.
GP00002282
PRLR
P16471
Morphology
Physiology
g.39136559delC p.Leu462* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Prolactin receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin receptor
Hair (slick ; short)
Thermoregulation (tolerance to warm climate)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Porto-Neto LR; Bickhart DM; Landaeta-Hernandez AJ ; et al. (2018)
Convergent Evolution of Slick Coat in Cattle through Truncation Mutations in the Prolactin Receptor.
GP00002283
PRLR
P16471
Morphology
Physiology
g.39136571C>A p.Ser465* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Prolactin receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin receptor
Hair (slick ; short)
Thermoregulation (tolerance to warm climate)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Porto-Neto LR; Bickhart DM; Landaeta-Hernandez AJ ; et al. (2018)
Convergent Evolution of Slick Coat in Cattle through Truncation Mutations in the Prolactin Receptor.
GP00002284
PRLR
P16471
Morphology
Physiology
g.39136666C>T p.Arg497* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Prolactin receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
prophenoloxidase 3 (PPO3)
Immune response (melanotic encapsulation by lamellocytes)
Coding,
SNP
N
Drosophila sechellia
(species) D
Interspecific
Candidate Gene
Dudzic JP; Kondo S; Ueda R ; et al. (2015)
Drosophila innate immunity: regional and functional specialization of prophenoloxidases.
GP00001781
PPO3
Q9W1V6
Physiology
amino acid change at position 48 which converts the terminal glutamine residue of the propeptide region to a stop codon, and is predicted to generate a truncated version of the PPO3 protein N
Drosophila simulans
(species)
Drosophila mauritiana
(species)
Drosophila sechellia
(species) D
prophenoloxidase 3 (PPO3)
Drosophila sechellia
(species)
Published - Accepted by Curator
protein phosphatase
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001534
PF3D7_1012700
Q8IJR8
Physiology
p.Val1157Leu
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
protein phosphatase
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
protoporphyrinogen oxidase (PPO2 = PPX2L)
Xenobiotic resistance (herbicides)
Coding,
Deletion
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt WL; Hager AG; McCormick JS ; et al. (2006)
A codon deletion confers resistance to herbicides inhibiting protoporphyrinogen oxidase.
GP00000929
PPX2L
Q0NZW6
Physiology
3bp deletion; deletion of G210
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
protoporphyrinogen oxidase (PPO2 = PPX2L)
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time
Coding,
Deletion
N
Sorghum bicolor
sorghum - (species) D
Domesticated
Linkage Mapping
Murphy RL; Klein RR; Morishige DT ; et al. (2011)
Coincident light and clock regulation of pseudoresponse regulator protein 37 (PRR37) controls photop[...]
GP00000930
PRR37
Q0D3B6
Physiology
1bp deletion resulting in frameshift N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species) D
PRR37 pseudoresponse regulator protein 37
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time
2 Mutations:
Coding
SNP
N
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Murphy RL; Klein RR; Morishige DT ; et al. (2011)
Coincident light and clock regulation of pseudoresponse regulator protein 37 (PRR37) controls photop[...]
GP00000931
PRR37
Q0D3B6
Physiology
2 mutations
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
PRR37 pseudoresponse regulator protein 37
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time
Coding,
SNP
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Murphy RL; Klein RR; Morishige DT ; et al. (2011)
Coincident light and clock regulation of pseudoresponse regulator protein 37 (PRR37) controls photop[...]
GP00000932
PRR37
Q0D3B6
Physiology
K162N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
PRR37 pseudoresponse regulator protein 37
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time (heading date)
Coding,
SNP
N
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Linkage Mapping
Koo BH; Yoo SC; Park JW ; et al. (2013)
Natural variation in OsPRR37 regulates heading date and contributes to rice cultivation at a wide ra[...]
GP00001632
PRR37
Q0D3B6
Physiology
Nonfunctional allele PRR37-2a: L710P missense mutation in the CONSTANS-Co-like and TOC1 domain of the protein N
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
PRR37 pseudoresponse regulator protein 37
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time (heading date)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Koo BH; Yoo SC; Park JW ; et al. (2013)
Natural variation in OsPRR37 regulates heading date and contributes to rice cultivation at a wide ra[...]
GP00001633
PRR37
Q0D3B6
Physiology
Nonfunctional allele PRR37-1a: a 8-bp deletion at position 1515 leading to frameshift N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
PRR37 pseudoresponse regulator protein 37
Oryza sativa
rice - (species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time (heading date)
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Koo BH; Yoo SC; Park JW ; et al. (2013)
Natural variation in OsPRR37 regulates heading date and contributes to rice cultivation at a wide ra[...]
GP00001634
PRR37
Q0D3B6
Physiology
Nonfunctional allele PRR37-1b: Y704H N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
PRR37 pseudoresponse regulator protein 37
Oryza sativa
rice - (species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time (heading date)
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Koo BH; Yoo SC; Park JW ; et al. (2013)
Natural variation in OsPRR37 regulates heading date and contributes to rice cultivation at a wide ra[...]
GP00001635
PRR37
Q0D3B6
Physiology
Nonfunctional allele PRR37-1c: a premature stop Q705* N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
PRR37 pseudoresponse regulator protein 37
Oryza sativa
rice - (species)
Published - Accepted by Curator
PsbHLH = A
Coloration (flowers)
Coding,
SNP
N
Pisum sativum
pea - (species)
Domesticated
Linkage Mapping
Hellens RP; Moreau C; Lin-Wang K ; et al. (2010)
Identification of Mendel's white flower character.
GP00000935
BHLH
E3SXU4
Morphology
Splice site mutation: a simple G to A transition in a splice donor site that leads to a mis-spliced mRNA with a premature stop codon N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
PsbHLH = A
Pisum sativum
pea - (species)
Published - Accepted by Curator
PSMB7
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies)
Domesticated
Linkage Mapping
Clark LA; Tsai KL; Starr AN ; et al. (2011)
A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning[...]
GP00000936
Psmb7
P70195
Morphology
c.146T>G p.V6G
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
PSMB7
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PSST
Xenobiotic resistance (METI-I acaricide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Bajda S; Dermauw W; Panteleri R ; et al. (2017)
A mutation in the PSST homologue of complex I (NADH:ubiquinone oxidoreductase) from Tetranychus urti[...]
GP00002635
ND-20
Q9VXK7
Physiology
H92R
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
PSST
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
PSST
Xenobiotic resistance (METI-I acaricide)
Coding,
SNP
Panonychus citri
citrus red mite - (species) D
Intraspecific
Candidate Gene
Alavijeh ES; Khajehali J; Snoeck S ; et al. (2020)
Molecular and genetic analysis of resistance to METI-I acaricides in Iranian populations of the citr[...]
GP00002636
ND-20
Q9VXK7
Physiology
H92R
Panonychus citri
citrus red mite - (species)
Panonychus citri
citrus red mite - (species) D
PSST
Panonychus citri
citrus red mite - (species)
Published - Accepted by Curator
PTPN1
High-altitude adaptation
Coding,
SNP
Locusta migratoria
migratory locust - (species) D
Intraspecific
Association Mapping
Ding D; Liu G; Hou L ; et al. (2018)
Genetic variation in PTPN1 contributes to metabolic adaptation to high-altitude hypoxia in Tibetan m[...]
GP00002668
P18031NULL
Physiology
one nonsynonymous mutation (c.1046A>T) in PTPN1 in Tibetan locusts which encodes the amino acid substitution p.Asn349Ile at the proline (Pro)-rich domain of PTP1B.
Locusta migratoria
migratory locust - (species)
Locusta migratoria
migratory locust - (species) D
PTPN1
Locusta migratoria
migratory locust - (species)
Published - Accepted by Curator
Q = wheat AP2-like (WAP2)
Inflorescence morphology
Spike morphology
Coding,
SNP
Triticum turgidum
(species)
Domesticated
Linkage Mapping
Simons KJ; Fellers JP; Trick HN ; et al. (2006)
Molecular characterization of the major wheat domestication gene Q.
GP00000940
WANT1
C1PH82
Morphology
Morphology
V329I
Triticum turgidum
(species)
Triticum turgidum
(species)
Q = wheat AP2-like (WAP2)
Triticum turgidum
(species)
Published - Accepted by Curator
qPE9-1
Plant architecture
Inflorescence architecture
Coding,
Indel
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Zhou Y; Zhu J; Li Z ; et al. (2009)
Deletion in a quantitative trait gene qPE9-1 associated with panicle erectness improves plant archit[...]
GP00000941
PAY1
B8Y995
Morphology
Morphology
637-bp deletion and 12-bp insertion resulting in truncated protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
qPE9-1
Oryza sativa
rice - (species)
Published - Accepted by Curator
qSW5
Grain size
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Shomura A; Izawa T; Ebana K ; et al. (2008)
Deletion in a gene associated with grain size increased yields during rice domestication.
1 Additional References
GP00000944
qSW5
F8SPD1
Morphology
1212bp deletion N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
qSW5
Oryza sativa
rice - (species)
Published - Accepted by Curator
R/glyma09g36983
Coloration (seeds)
Coding,
SNP
N
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Gillman JD; Tetlow A; Lee JD ; et al. (2011)
Loss-of-function mutations affecting a specific Glycine max R2R3 MYB transcription factor result in [...]
1 Additional References
GP00000946
100780023
K7LFP2
Morphology
C377- creating premature Stop N
Glycine max
soybean - (species)
Glycine max
soybean - (species)
R/glyma09g36983
Glycine max
soybean - (species)
Published - Accepted by Curator
RAC1
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Borhan MH; Holub EB; Beynon JL ; et al. (2004)
The arabidopsis TIR-NB-LRR gene RAC1 confers resistance to Albugo candida (white rust) and is depend[...]
GP00000949
ARAC3
Q38912
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RAC1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RAD5
Xenobiotic resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Demogines A; Smith E; Kruglyak L ; et al. (2008)
Identification and dissection of a complex DNA repair sensitivity phenotype in Baker's yeast.
1 Additional References
GP00000950
RAD5
P32849
Physiology
I791S
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
RAD5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000952
RAS2
P01120
Physiology
Glu>Ala (A>C mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS1
Salt tolerance
Abscisic acid sensitivity
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ren Z; Zheng Z; Chinnusamy V ; et al. (2010)
RAS1, a quantitative trait locus for salt tolerance and ABA sensitivity in Arabidopsis.
GP00000953
RAS1
O04515
Physiology
Physiology
Premature stop codon; Lys>STOP N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RAS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RAS2
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000954
RAS2
P01120
Physiology
Gly>Ser (C>T mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS2
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000955
RAS2
P01120
Physiology
Glu>Gln (C>G mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Rc
Coloration (seed)
Coding,
SNP
N
Oryza glaberrima
African rice - (species)
Domesticated
Candidate Gene
Gross BL; Steffen FT; Olsen KM (2010)
The molecular basis of white pericarps in African domesticated rice: novel mutations at the Rc gene.
GP00000958
Rc
A7J5U6
Morphology
Premature stop codon in exon 7; Lys>* N
Oryza glaberrima
African rice - (species)
Oryza glaberrima
African rice - (species)
Rc
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
Rc
Coloration (seed)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Sweeney MT; Thomson MJ; Cho YG ; et al. (2007)
Global dissemination of a single mutation conferring white pericarp in rice.
GP00000959
Rc
A7J5U6
Morphology
14bp deletion N
Oryza rufipogon
(species)
Oryza sativa
rice - (species) D
Rc
Oryza sativa
rice - (species)
Published - Accepted by Curator
Rc
Coloration (seed)
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sweeney MT; Thomson MJ; Cho YG ; et al. (2007)
Global dissemination of a single mutation conferring white pericarp in rice.
2 Additional References
GP00000960
Rc
A7J5U6
Morphology
substitution; C->A in exon 6; introduces a premature stop codon (Cys>*) that truncates the protein before the bHLH domain N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Rc
Oryza sativa
rice - (species)
Published - Accepted by Curator
RCR3
Pathogen resistance
Coding,
SNP
Solanum peruvianum
(species)
Intraspecific
Candidate Gene
Hörger AC; Ilyas M; Stephan W ; et al. (2012)
Balancing selection at the tomato RCR3 Guardee gene family maintains variation in strength of pathog[...]
GP00000963
Rcr3
Q8S333
Physiology
Candidate amino acid changes are I206K and/or Q222E and/or S330A
Solanum peruvianum
(species)
Solanum peruvianum
(species)
RCR3
Solanum peruvianum
(species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001246
At4g11040
Q9T010
Physiology
G892A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001248
At4g11040
Q9T010
Physiology
-23bp at position 1371 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001249
At4g11040
Q9T010
Physiology
-25bp at position 25 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001250
At4g11040
Q9T010
Physiology
-50bp at position 50; -390bp at position 504 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001251
At4g11040
Q9T010
Physiology
-13bp at position 1440 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001252
At4g11040
Q9T010
Physiology
-2bp at position 1456 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001253
At4g11040
Q9T010
Physiology
-4bp at position 1391 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001254
At4g11040
Q9T010
Physiology
-16bp at position 1054 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001255
At4g11040
Q9T010
Physiology
-19bp at position 594 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001256
At4g11040
Q9T010
Physiology
-2bp at position 606 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001257
At4g11040
Q9T010
Physiology
-4bp at position 11 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001258
At4g11040
Q9T010
Physiology
C684A which causes C135* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001259
At4g11040
Q9T010
Physiology
4 amino acid changes: N45K; G54R; T55K; E208A - the effect of each single amino acid change has not been tested N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001260
At4g11040
Q9T010
Physiology
-1bp at position 498 causing premature STOP N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001261
At4g11040
Q9T010
Physiology
-1bp at position 498 causing premature STOP N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Rds2
Oxidative stress resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Diezmann S; Dietrich FS (2011)
Oxidative stress survival in a clinical Saccharomyces cerevisiae isolate is influenced by a major qu[...]
GP00000964
RDS2
P19541
Physiology
H251D
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
Rds2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Reduced height-1 (Rht1)
Plant size (dwarfism)
Coding,
SNP
N
Helianthus annuus
common sunflower - (species) D
Domesticated
Linkage Mapping
Ramos ML; Altieri E; Bulos M ; et al. (2013)
Phenotypic characterization, genetic mapping and candidate gene analysis of a source conferring redu[...]
GP00001728
D8
Q9ST48
Morphology
T-to-C transition corresponding to nucleotide positions 143 - the SNP at position 143 converts a leucine residue in a proline within the conserved DELLA motif—This amino acid position corresponds to amino acid position 57 in the full-length amino acid sequence encoded by the L. sativa DELLA1 nucleotide sequence of GenBank Accession No. BAG71200.1 N
Helianthus annuus
common sunflower - (species)
Helianthus annuus
common sunflower - (species) D
Reduced height-1 (Rht1)
Helianthus annuus
common sunflower - (species)
Published - Accepted by Curator
Reduced height-B1 (RhtB1)
Plant size (dwarfism)
Coding,
SNP
N
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Peng J; Richards DE; Hartley NM ; et al. (1999)
'Green revolution' genes encode mutant gibberellin response modulators.
GP00000965
D8
Q9ST48
Morphology
Q64*; TGA>CGA N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Reduced height-B1 (RhtB1)
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Reduced height-D1 (RhtD1)
Plant size (dwarfism)
Coding,
SNP
N
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Peng J; Richards DE; Hartley NM ; et al. (1999)
'Green revolution' genes encode mutant gibberellin response modulators.
GP00000966
D8
Q9ST48
Morphology
E61*; GGA>TGA N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Reduced height-D1 (RhtD1)
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
ref(2)P
Pathogen resistance (sigma virus)
Coding,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Dru P; Bras F; Dezélée S ; et al. (1993)
Unusual variability of the Drosophila melanogaster ref(2)P protein which controls the multiplication[...]
2 Additional References
GP00001994
ref(2)P
P14199
Physiology
Several differences (SNP and indels) are detected between permissive ref(2)Po and restrictive ref(2)Pn strains. Exact causing mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
ref(2)P
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ref(2)P
Pathogen resistance (sigma virus)
Coding,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Dru P; Bras F; Dezélée S ; et al. (1993)
Unusual variability of the Drosophila melanogaster ref(2)P protein which controls the multiplication[...]
2 Additional References
GP00001995
ref(2)P
P14199
Physiology
Several differences (SNP and indels) are detected between permissive ref(2)Po and restrictive ref(2)Pp strains. Exact causing mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
ref(2)P
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Resistance related Kinase 1 (RKS1)
Pathogen resistance (plant bacteria)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Huard-Chauveau C; Perchepied L; Debieu M ; et al. (2013)
An atypical kinase under balancing selection confers broad-spectrum disease resistance in Arabidopsi[...]
GP00001599
F15B8.100
Q9SVY5
Physiology
a single-SNP difference in the coding region resulting in an amino acid change in the activation segment relative to the catalytic kinase loop. Other polymorphisms were found in the 5' and 3' regulatory regions. RKS1-L expression is 235.1 fold higher
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Resistance related Kinase 1 (RKS1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Thompson M; Shotkoski F; ffrench-Constant R (1993)
Cloning and sequencing of the cyclodiene insecticide resistance gene from the yellow fever mosquito [...]
GP00000968
Rdl
P25123
Physiology
Ala302Ser
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
resistance to dieldrin
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles arabiensis
(species) D
Intraspecific
Candidate Gene
Du W; Awolola TS; Howell P ; et al. (2005)
Independent mutations in the Rdl locus confer dieldrin resistance to Anopheles gambiae and An. arabi[...]
GP00000969
Rdl
P25123
Physiology
Ala302Ser
Anopheles arabiensis
(species)
Anopheles arabiensis
(species) D
resistance to dieldrin
Anopheles arabiensis
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Du W; Awolola TS; Howell P ; et al. (2005)
Independent mutations in the Rdl locus confer dieldrin resistance to Anopheles gambiae and An. arabi[...]
GP00000970
Rdl
P25123
Physiology
Ala302Gly
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
resistance to dieldrin
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Anthony NM; Brown JK; Markham PG ; et al. (1995
)
Molecular analysis of cyclodiene resistance-associated mutations among populations of the sweetpotat[...]
1 Additional References
GP00000971
Rdl
P25123
Physiology
2 mutations
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
resistance to dieldrin
Bemisia tabaci
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Kaku K; Matsumura F (1994)
Identification of the site of mutation within the M2 region of the GABA receptor of the cyclodiene-r[...]
GP00000972
Rdl
P25123
Physiology
Ala302Ser
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
resistance to dieldrin
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Ctenocephalides felis
cat flea - (species) D
Intraspecific
Candidate Gene
Bass C; Schroeder I; Turberg A ; et al. (2004)
Identification of the Rdl mutation in laboratory and field strains of the cat flea, Ctenocephalides [...]
GP00000973
Rdl
P25123
Physiology
Ala302Ser
Ctenocephalides felis
cat flea - (species)
Ctenocephalides felis
cat flea - (species) D
resistance to dieldrin
Ctenocephalides felis
cat flea - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Ffrench-Constant RH; Rocheleau TA; Steichen JC ; et al. (1993)
A point mutation in a Drosophila GABA receptor confers insecticide resistance.
2 Additional References
GP00000974
Rdl
P25123
Physiology
Ala302Ser - G9155164T
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
resistance to dieldrin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Lee HJ; Rocheleau T; Zhang HG ; et al. (1993)
Expression of a Drosophila GABA receptor in a baculovirus insect cell system. Functional expression [...]
1 Additional References
GP00000975
Rdl
P25123
Physiology
Ala302Ser
Drosophila simulans
(species)
Drosophila simulans
(species) D
resistance to dieldrin
Drosophila simulans
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Lee HJ; Rocheleau T; Zhang HG ; et al. (1993)
Expression of a Drosophila GABA receptor in a baculovirus insect cell system. Functional expression [...]
1 Additional References
GP00000976
Rdl
P25123
Physiology
Ala302Gly
Drosophila simulans
(species)
Drosophila simulans
(species) D
resistance to dieldrin
Drosophila simulans
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Hypothenemus hampei
coffee berry borer - (species) D
Intraspecific
Candidate Gene
Brun LO; Stuart J; Gaudichon V ; et al. (1995)
Functional haplodiploidy: a mechanism for the spread of insecticide resistance in an important inter[...]
2 Additional References
GP00000977
Rdl
P25123
Physiology
Ala302Ser
Hypothenemus hampei
coffee berry borer - (species)
Hypothenemus hampei
coffee berry borer - (species) D
resistance to dieldrin
Hypothenemus hampei
coffee berry borer - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Thompson M; Steichen JC; ffrench-Constant RH (1993)
Conservation of cyclodiene insecticide resistance-associated mutations in insects.
GP00000978
Rdl
P25123
Physiology
Ala302Ser
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
resistance to dieldrin
Musca domestica
house fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Anthony N; Unruh T; Ganser D ; et al. (1998)
Duplication of the Rdl GABA receptor subunit gene in an insecticide-resistant aphid, Myzus persicae.
GP00000979
Rdl
P25123
Physiology
Ala302Gly
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
resistance to dieldrin
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Periplaneta americana
American cockroach - (species) D
Intraspecific
Candidate Gene
Thompson M; Steichen JC; ffrench-Constant RH (1993)
Conservation of cyclodiene insecticide resistance-associated mutations in insects.
GP00000980
Rdl
P25123
Physiology
Ala302Ser
Periplaneta americana
American cockroach - (species)
Periplaneta americana
American cockroach - (species) D
resistance to dieldrin
Periplaneta americana
American cockroach - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Tribolium castaneum
red flour beetle - (species)
Intraspecific
Candidate Gene
Miyazaki M; Matsumura F; Beeman RW (1995)
DNA sequence and site of mutation of the GABA receptor of cyclodiene-resistant red flour beetle, Tri[...]
1 Additional References
GP00000981
Rdl
P25123
Physiology
Ala302Ser
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species)
resistance to dieldrin
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Le Goff G; Hamon A; Bergé JB ; et al. (2005)
Resistance to fipronil in Drosophila simulans: influence of two point mutations in the RDL GABA rece[...]
GP00001981
Rdl
P25123
Physiology
2 mutations
Drosophila simulans
(species)
Drosophila simulans
(species) D
resistance to dieldrin
Drosophila simulans
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
ffrench-Constant RH; Steichen JC; Rocheleau TA ; et al. (1993)
A single-amino acid substitution in a gamma-aminobutyric acid subtype A receptor locus is associated[...]
GP00001982
Rdl
P25123
Physiology
Ala301Ser - The lesion in the RdlMD-RR allele has been described as A302S in print but the amino acid replacement is actually A301S.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
resistance to dieldrin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Wondji CS; Dabire RK; Tukur Z ; et al. (2011)
Identification and distribution of a GABA receptor mutation conferring dieldrin resistance in the ma[...]
GP00002557
Rdl
P25123
Physiology
2 mutations
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
resistance to dieldrin
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Domingues LN; Guerrero FD; Becker ME ; et al. (2013)
Discovery of the Rdl mutation in association with a cyclodiene resistant population of horn flies, H[...]
1 Additional References
GP00002558
Rdl
P25123
Physiology
Ala301Ser
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
resistance to dieldrin
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Tantely ML; Tortosa P; Alout H ; et al. (2010)
Insecticide resistance in Culex pipiens quinquefasciatus and Aedes albopictus mosquitoes from La Réu[...]
1 Additional References
GP00002559
Rdl
P25123
Physiology
Ala301Ser
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
resistance to dieldrin
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes albopictus
Asian tiger mosquito - (species) D
Intraspecific
Candidate Gene
Tantely ML; Tortosa P; Alout H ; et al. (2010)
Insecticide resistance in Culex pipiens quinquefasciatus and Aedes albopictus mosquitoes from La Réu[...]
1 Additional References
GP00002560
Rdl
P25123
Physiology
Ala301Ser
Aedes albopictus
Asian tiger mosquito - (species)
Aedes albopictus
Asian tiger mosquito - (species) D
resistance to dieldrin
Aedes albopictus
Asian tiger mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Laodelphax striatellus
small brown planthopper - (species) D
Intraspecific
Candidate Gene
Nakao T; Kawase A; Kinoshita A ; et al. (2011)
The A2'N mutation of the RDL gamma-aminobutyric acid receptor conferring fipronil resistance in Laod[...]
1 Additional References
GP00002561
Rdl
P25123
Physiology
A301N
Laodelphax striatellus
small brown planthopper - (species)
Laodelphax striatellus
small brown planthopper - (species) D
resistance to dieldrin
Laodelphax striatellus
small brown planthopper - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Experimental Evolution
Candidate Gene
Li A; Yang Y; Wu S ; et al. (2006)
Investigation of resistance mechanisms to fipronil in diamondback moth (Lepidoptera: Plutellidae).
1 Additional References
GP00002562
Rdl
P25123
Physiology
A302(GGC)--> S302(TCC)
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
resistance to dieldrin
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Sogatella furcifera
white-backed planthopper - (species) D
Experimental Evolution
Candidate Gene
Nakao Toshifumi; Naoi Atsuko; Kawahara Nobuyuki ; et al. (2010
)
Mutation of the GABA receptor associated with fipronil resistance in the whitebacked planthopper, So[...]
1 Additional References
GP00002563
Rdl
P25123
Physiology
2 mutations
Sogatella furcifera
white-backed planthopper - (species)
Sogatella furcifera
white-backed planthopper - (species) D
resistance to dieldrin
Sogatella furcifera
white-backed planthopper - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Oulema oryzae
rice leaf beetle - (species) D
Experimental Evolution
Candidate Gene
Nakao Toshifumi; Naoi Atsuko; Kawahara Nobuyuki ; et al. (2010
)
Mutation of the GABA receptor associated with fipronil resistance in the whitebacked planthopper, So[...]
1 Additional References
GP00002564
Rdl
P25123
Physiology
A301S
Oulema oryzae
rice leaf beetle - (species)
Oulema oryzae
rice leaf beetle - (species) D
resistance to dieldrin
Oulema oryzae
rice leaf beetle - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Diabrotica virgifera
(species) D
Intraspecific
Candidate Gene
Wang H; Coates BS; Chen H ; et al. (2013)
Role of a γ-aminobutryic acid (GABA) receptor mutation in the evolution and spread of Diabrotica vir[...]
1 Additional References
GP00002566
Rdl
P25123
Physiology
A301S
Diabrotica virgifera
(species)
Diabrotica virgifera
(species) D
resistance to dieldrin
Diabrotica virgifera
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
Hope M; Menzies M; Kemp D (2010)
Identification of a dieldrin resistance-associated mutation in Rhipicephalus (Boophilus) microplus ([...]
1 Additional References
GP00002567
Rdl
P25123
Physiology
T305L
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
resistance to dieldrin
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
resistant to methyl viologen 1 (RMV1)
Polyamine uptake
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Fujita M; Fujita Y; Iuchi S ; et al. (2012)
Natural variation in a polyamine transporter determines paraquat tolerance in Arabidopsis.
GP00000982
RMV1
Q9FFL1
Physiology
Ile377Phe N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
resistant to methyl viologen 1 (RMV1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
retr02/eIF(iso)4E
Pathogen resistance (plant virus)
Coding,
SNP
Brassica rapa
field mustard - (species) D
Domesticated
Linkage Mapping
Qian W; Zhang S; Zhang S ; et al. (2013)
Mapping and candidate-gene screening of the novel Turnip mosaic virus resistance gene retr02 in Chin[...]
GP00000983
EIF(ISO)4E
O04663
Physiology
G152R
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species) D
retr02/eIF(iso)4E
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
RGC2/Dm3
Pathogen resistance
Coding,
Unknown
Lactuca serriola
(species)
Domesticated
Linkage Mapping
Kuang H; Ochoa OE; Nevo E ; et al. (2006)
The disease resistance gene Dm3 is infrequent in natural populations of Lactuca serriola due to dele[...]
GP00000984
RGC2
Q6Y136
Physiology
Various haplotypes detected using PCR - absence of amplification could be due to deletion or to gene conversion
Lactuca serriola
(species)
Lactuca serriola
(species)
RGC2/Dm3
Lactuca serriola
(species)
Published - Accepted by Curator
Rgh4
Pathogen resistance (cyst nematode; parasite)
2 Mutations:
Coding
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Liu S; Kandoth PK; Warren SD ; et al. (2012)
A soybean cyst nematode resistance gene points to a new mechanism of plant resistance to pathogens.
GP00001049
SHMT
K4FZF8
Physiology
2 mutations
Glycine max
soybean - (species)
Glycine max
soybean - (species)
Rgh4
Glycine max
soybean - (species)
Published - Accepted by Curator
Rhodopsin (RH1)
Color vision (blue shift)
Coding,
SNP
Thunnus orientalis
Pacific bluefin tuna - (species) D
Intergeneric or Higher
Candidate Gene
Nakamura Y; Mori K; Saitoh K ; et al. (2013)
Evolutionary changes of multiple visual pigment genes in the complete genome of Pacific bluefin tuna[...]
GP00001468
rho
P35359
Physiology
p.E122Q (G>C)
Percomorphaceae
(no rank)
Thunnus orientalis
Pacific bluefin tuna - (species) D
Rhodopsin (RH1)
Thunnus orientalis
Pacific bluefin tuna - (species)
Published - Accepted by Curator
ribonuclease 1B (RNase1B)
Optimal enzymatic pH
3 Mutations:
Coding
SNP
Pygathrix nemaeus
Red shanked douc langur - (species) D
Intergeneric or Higher
Candidate Gene
Zhang J (2006)
Parallel adaptive origins of digestive RNases in Asian and African leaf monkeys.
GP00000987
RNASE1B
Q8SPN3
Physiology
3 mutations
Primates
(order)
Pygathrix nemaeus
Red shanked douc langur - (species) D
ribonuclease 1B (RNase1B)
Pygathrix nemaeus
Red shanked douc langur - (species)
Published - Accepted by Curator
ribonuclease 1B (RNase1B)
Optimal enzymatic pH
3 Mutations:
Coding
SNP
Colobus guereza
mantled guereza - (species)
Intergeneric or Higher
Candidate Gene
Zhang J (2006)
Parallel adaptive origins of digestive RNases in Asian and African leaf monkeys.
GP00000988
RNASE1B
Q8SPN3
Physiology
3 mutations
Primates
(order)
Colobus guereza
mantled guereza - (species)
ribonuclease 1B (RNase1B)
Colobus guereza
mantled guereza - (species)
Published - Accepted by Curator
RIM15
Low-glucose adaptation (experimental evolution)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00000989
RIM15
P43565
Physiology
1bp deletion resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RIM15
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RNASE1B
Folivory (digestion of bacteria at low pH)
Coding,
SNP
Colobus guereza
mantled guereza - (species) D
Piliocolobus badius
western red colobus - (species) D
Intergeneric or Higher
Candidate Gene
Zhou X; Wang B; Pan Q ; et al. (2014)
Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary hi[...]
GP00001412
RNASE1B
Q8SPN3
Physiology
p.Arg39Trp
Macaca mulatta
Rhesus monkey - (species)
Colobus guereza
mantled guereza - (species) D
Piliocolobus badius
western red colobus - (species) D
RNASE1B
Colobus guereza
mantled guereza - (species)
Piliocolobus badius
western red colobus - (species)
Published - Accepted by Curator
RNASE1B
Folivory (digestion of bacteria at low pH)
Coding,
SNP
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Nasalis larvatus
proboscis monkey - (species) D
Pygathrix nemaeus
Red shanked douc langur - (species) D
Intergeneric or Higher
Candidate Gene
Zhou X; Wang B; Pan Q ; et al. (2014)
Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary hi[...]
GP00001413
RNASE1B
Q8SPN3
Physiology
p.Arg39Trp
Colobinae
(subfamily)
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Nasalis larvatus
proboscis monkey - (species) D
Pygathrix nemaeus
Red shanked douc langur - (species) D
RNASE1B
Rhinopithecus roxellana
golden snub-nosed monkey - (species)
Nasalis larvatus
proboscis monkey - (species)
Pygathrix nemaeus
Red shanked douc langur - (species)
Published - Accepted by Curator
RNASE1B
Folivory (digestion of bacteria at low pH)
Coding,
SNP
Presbytis melalophos
mitred leaf monkey - (species) D
Interspecific
Candidate Gene
Zhou X; Wang B; Pan Q ; et al. (2014)
Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary hi[...]
GP00001414
RNASE1B
Q8SPN3
Physiology
p.Arg39Gln
Colobinae
(subfamily)
Presbytis melalophos
mitred leaf monkey - (species) D
RNASE1B
Presbytis melalophos
mitred leaf monkey - (species)
Published - Accepted by Curator
RNASE4
High-altitude adaptation (enhanced angiogenesis)
2 Mutations:
Coding
SNP
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001505
RNASE4
P34096
Physiology
2 mutations
Rhinopithecus avunculus
Tonkin snub-nosed monkey - (species)
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
RNASE4
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species)
Rhinopithecus bieti
black snub-nosed monkey - (species)
Published - Accepted by Curator
RNASE4 [likely pseudo-replicate of other RNASE4 entry by introgression]
High-altitude adaptation (enhanced angiogenesis)
2 Mutations:
Coding
SNP
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001506
RNASE4
P34096
Physiology
2 mutations
Rhinopithecus brelichi
Gray snub-nosed monkey - (species)
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
RNASE4 [likely pseudo-replicate of other RNASE4 entry by introgression]
Rhinopithecus roxellana
golden snub-nosed monkey - (species)
Published - Accepted by Curator
RNF212
Recombination rate (male)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001639
RNF212
Q495C1
Physiology
T>C p.P259S in exon 12 with reduction in Genome-wide recombination rate
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
RNF212
Bos taurus
cattle - (species)
Published - Accepted by Curator
RORB
gait (saltatorial locomotion)
Coding,
SNP
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Association Mapping
Carneiro M; Vieillard J; Andrade P ; et al. (2021)
A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits.
GP00002343
RORB
F1PET8
Behavior
a change from GT to AT in the 5’ donor site of intron 9 (chr1: 61,103,503bp). The mutation disrupts the normal splicing of RORB.
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
RORB
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
RPP1-WsA
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Botella MA; Parker JE; Frost LN ; et al. (1998)
Three genes of the Arabidopsis RPP1 complex resistance locus recognize distinct Peronospora parasiti[...]
GP00001002
RPP1
F4J339
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP1-WsA
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP1-WsB
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Botella MA; Parker JE; Frost LN ; et al. (1998)
Three genes of the Arabidopsis RPP1 complex resistance locus recognize distinct Peronospora parasiti[...]
GP00001003
RPP1
F4J339
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP1-WsB
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP1-WsC
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Botella MA; Parker JE; Frost LN ; et al. (1998)
Three genes of the Arabidopsis RPP1 complex resistance locus recognize distinct Peronospora parasiti[...]
GP00001004
RPP1
F4J339
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP1-WsC
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP13
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Interspecific
Linkage Mapping
Rose LE; Bittner-Eddy PD; Langley CH ; et al. (2004)
The maintenance of extreme amino acid diversity at the disease resistance gene, RPP13, in Arabidopsi[...]
GP00001005
RPP13
Q9M667
Physiology
Various haplotypes
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP13
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP2A-RPP2B
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Sinapidou E; Williams K; Nott L ; et al. (2004)
Two TIR:NB:LRR genes are required to specify resistance to Peronospora parasitica isolate Cala2 in A[...]
GP00001006
RPP2A
P51407
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP2A-RPP2B
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP4
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
van der Biezen EA; Freddie CT; Kahn K ; et al. (2002)
Arabidopsis RPP4 is a member of the RPP5 multigene family of TIR-NB-LRR genes and confers downy mild[...]
GP00001007
RPP4
F4JNA9
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP4
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP5
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
van der Biezen EA; Freddie CT; Kahn K ; et al. (2002)
Arabidopsis RPP4 is a member of the RPP5 multigene family of TIR-NB-LRR genes and confers downy mild[...]
1 Additional References
GP00001008
RPP5
F4JNB7
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP8
Pathogen resistance
Coding,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
McDowell JM; Dhandaydham M; Long TA ; et al. (1998)
Intragenic recombination and diversifying selection contribute to the evolution of downy mildew resi[...]
1 Additional References
GP00001010
RPP8
Q8W4J9
Physiology
Chimeric fusion of two paralogues followed by coding divergence
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP8
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPS2
Pathogen resistance
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Mindrinos M; Katagiri F; Yu GL ; et al. (1994)
The A. thaliana disease resistance gene RPS2 encodes a protein containing a nucleotide-binding site [...]
GP00001011
RPS2
Q42484
Physiology
10bp insertion close to the 5' end causing a frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RPS2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPS2
Pathogen resistance
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Caicedo AL; Schaal BA; Kunkel BN (1999)
Diversity and molecular evolution of the RPS2 resistance gene in Arabidopsis thaliana.
GP00001012
RPS2
Q42484
Physiology
W235* due to G704A N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPS2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPS4
Pathogen resistance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Narusaka M; Shirasu K; Noutoshi Y ; et al. (2009)
RRS1 and RPS4 provide a dual Resistance-gene system against fungal and bacterial pathogens.
1 Additional References
GP00001013
RPS4
Q9XGM3
Physiology
5bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RPS4
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RRS1
Pathogen resistance
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Narusaka M; Shirasu K; Noutoshi Y ; et al. (2009)
RRS1 and RPS4 provide a dual Resistance-gene system against fungal and bacterial pathogens.
1 Additional References
GP00001015
RRS1
P0DKH5
Physiology
Premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RRS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RSF1
Sporulation efficiency
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00001016
HFR1
Q9FE22
Physiology
D181G
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
RSF1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Troczka B; Zimmer CT; Elias J ; et al. (2012)
Resistance to diamide insecticides in diamondback moth, Plutella xylostella (Lepidoptera: Plutellida[...]
2 Additional References
GP00002433
RyR
Q24498
Physiology
G4946E
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
RYR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Troczka B; Zimmer CT; Elias J ; et al. (2012)
Resistance to diamide insecticides in diamondback moth, Plutella xylostella (Lepidoptera: Plutellida[...]
1 Additional References
GP00002434
RyR
Q24498
Physiology
G4946E due to GGG>GAA
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
RYR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Roditakis E; Steinbach D; Moritz G ; et al. (2017)
Ryanodine receptor point mutations confer diamide insecticide resistance in tomato leafminer, Tuta a[...]
1 Additional References
GP00002435
RyR
Q24498
Physiology
G4903 corresponds to the G4946E mutation site shown to confer diamide resistance in diamondback moth
Tuta absoluta
(species)
Tuta absoluta
(species) D
RYR
Tuta absoluta
(species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Roditakis E; Steinbach D; Moritz G ; et al. (2017)
Ryanodine receptor point mutations confer diamide insecticide resistance in tomato leafminer, Tuta a[...]
1 Additional References
GP00002436
RyR
Q24498
Physiology
G4903 corresponds to the G4946E mutation site shown to confer diamide resistance in diamondback moth
Tuta absoluta
(species)
Tuta absoluta
(species) D
RYR
Tuta absoluta
(species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Douris V; Papapostolou KM; Ilias A ; et al. (2017)
Investigation of the contribution of RyR target-site mutations in diamide resistance by CRISPR/Cas9 [...]
1 Additional References
GP00002438
RyR
Q24498
Physiology
G4903V corresponds to the G4946E mutation site shown to confer diamide resistance in diamondback moth
Tuta absoluta
(species)
Tuta absoluta
(species) D
RYR
Tuta absoluta
(species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Douris V; Papapostolou KM; Ilias A ; et al. (2017)
Investigation of the contribution of RyR target-site mutations in diamide resistance by CRISPR/Cas9 [...]
1 Additional References
GP00002439
RyR
Q24498
Physiology
I4790M
Tuta absoluta
(species)
Tuta absoluta
(species) D
RYR
Tuta absoluta
(species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Guo L; Liang P; Zhou X ; et al. (2014)
Novel mutations and mutation combinations of ryanodine receptor in a chlorantraniliprole resistant p[...]
GP00002605
RyR
Q24498
Physiology
E1338D Q4594L I4790M)in highly conserved regions of RyR.
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
RYR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Gong W; Yan HH; Gao L ; et al. (2014)
Chlorantraniliprole resistance in the diamondback moth (Lepidoptera: Plutellidae).
GP00002609
RyR
Q24498
Physiology
14 amino acid (Q4546-S4559) deletion. RyR transcript levels are lower in resistant strains than in susceptible strains. N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
RYR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Chilo suppressalis
striped riceborer - (species) D
Intraspecific
Candidate Gene
Yao R; Zhao DD; Zhang S ; et al. (2017)
Monitoring and mechanisms of insecticide resistance in Chilo suppressalis (Lepidoptera: Crambidae), [...]
1 Additional References
GP00002626
RyR
Q24498
Physiology
G4946E
Chilo suppressalis
striped riceborer - (species)
Chilo suppressalis
striped riceborer - (species) D
RYR
Chilo suppressalis
striped riceborer - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Chilo suppressalis
striped riceborer - (species) D
Intraspecific
Candidate Gene
Wei Y; Yan R; Zhou Q ; et al. (2019)
Monitoring and Mechanisms of Chlorantraniliprole Resistance in Chilo suppressalis (Lepidoptera: Cram[...]
GP00002627
RyR
Q24498
Physiology
I4758M
Chilo suppressalis
striped riceborer - (species)
Chilo suppressalis
striped riceborer - (species) D
RYR
Chilo suppressalis
striped riceborer - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Candidate Gene
Zuo YY; Ma HH; Lu WJ ; et al. (2020)
Identification of the ryanodine receptor mutation I4743M and its contribution to diamide insecticide[...]
2 Additional References
GP00002633
RyR
Q24498
Physiology
I4743M - corresponds to I4790M in PxRyR
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
RYR
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
RYR1
Meat content
Coding,
SNP
Sus scrofa
pig - (species) D
Domesticated
Linkage Mapping
Fujii J; Otsu K; Zorzato F ; et al. (1991)
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.
GP00002338
Ryr1
E9PZQ0
Physiology
p.R615C
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
RYR1
Sus scrofa
pig - (species)
Published - Accepted by Curator
S5
Hybrid incompatibility (F1 female sterility)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Chen J; Ding J; Ouyang Y ; et al. (2008)
A triallelic system of S5 is a major regulator of the reproductive barrier and compatibility of indi[...]
GP00001020
GRXS5
Q5QLR2
Physiology
2 non-synonymous changes Leu273Phe and Val471Ala segregate perfectly between japonica (Leu-Val) and japonica (Phe-Ala) - the effect of each amino acid chaeg has not been tested
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
S5
Oryza sativa
rice - (species)
Published - Accepted by Curator
S5 (ORF3-ORF4-ORF5 gene complex)
Hybrid incompatibility (sterility)
Coding,
Complex Change
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Yang J; Zhao X; Cheng K ; et al. (2012)
A killer-protector system regulates both hybrid sterility and segregation distortion in rice.
GP00001021
GRXS5
Q5QLR2
Physiology
System of alleles at three linked genes resulting in killer-protector system (hybrid incompabilitites)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
S5 (ORF3-ORF4-ORF5 gene complex)
Oryza sativa
rice - (species)
Published - Accepted by Curator
SBNO1
Head size
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Taal HR; Pourcain BS; Thiering E ; et al. (2012)
Common variants at 12q15 and 12q24 are associated with infant head circumference.
GP00001023
SBNO1
A3KN83
Morphology
Ser729Asn
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SBNO1
Homo sapiens
human - (species)
Published - Accepted by Curator
SCARB1
Carotenoid content
Coding,
SNP
N
Serinus canaria
common canary - (species) D
Intraspecific
Linkage Mapping
Toomey MB; Lopes RJ; Araújo PM ; et al. (2017)
High-density lipoprotein receptor SCARB1 is required for carotenoid coloration in birds.
GP00001681
Scarb1
Q61009
Morphology
T>G nucleotide substitution in the splice-donor site immediately downstream of exon 4 of the SCARB1 gene. This mutation results in abnormal splicing; with the most abundant transcript lacking exon 4. Isoform 4 of SCARB1; the most abundant transcript isoform in the white recessive canary; is predicted to lack 68 amino acids; a deficiency which disrupts SCARB1 protein function. N
Serinus canaria
common canary - (species)
Serinus canaria
common canary - (species) D
SCARB1
Serinus canaria
common canary - (species)
Published - Accepted by Curator
scd-2
Diapause
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Reiner DJ; Ailion M; Thomas JH ; et al. (2008)
C. elegans anaplastic lymphoma kinase ortholog SCD-2 controls dauer formation by modulating TGF-beta[...]
GP00001026
scd-2
O76411
Physiology
Gly985Arg
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
scd-2
Caenorhabditis elegans
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Mya arenaria
(species) D
Intraspecific
Candidate Gene
Bricelj VM; Connell L; Konoki K ; et al. (2005)
Sodium channel mutation leading to saxitoxin resistance in clams increases risk of PSP.
GP00000721
SCN4A
P35499
Physiology
E945D
Mya arenaria
(species)
Mya arenaria
(species) D
SCN4A (Nav1.4)
Mya arenaria
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Erythrolamprus epinephelus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000724
SCN4A
P35499
Physiology
G1569D in DIV domain and D1568S in DIV domain with D1568S supposed to increase the resistance - exact causing mutation(s) unknown
Erythrolamprus poecilogyrus
(species)
Erythrolamprus epinephelus
(species) D
SCN4A (Nav1.4)
Erythrolamprus epinephelus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Rhabdophis tigrinus
Tiger keelback - (species) D
Interspecific
Candidate Gene
Feldman CR; Brodie ED; Brodie ED ; et al. (2012)
Constraint shapes convergence in tetrodotoxin-resistant sodium channels of snakes.
1 Additional References
GP00000725
SCN4A
P35499
Physiology
I1555M
Thamnophis elegans
Western terrestrial garter snake - (species)
Rhabdophis tigrinus
Tiger keelback - (species) D
SCN4A (Nav1.4)
Rhabdophis tigrinus
Tiger keelback - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis atratus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000726
SCN4A
P35499
Physiology
D1277E in DIII domain
Thamnophis couchii
(species)
Thamnophis atratus
(species) D
SCN4A (Nav1.4)
Thamnophis atratus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis atratus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000727
SCN4A
P35499
Physiology
D1568N in DIV domain
Thamnophis couchii
(species)
Thamnophis atratus
(species) D
SCN4A (Nav1.4)
Thamnophis atratus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis couchii
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000728
SCN4A
P35499
Physiology
M1276T in DIII domain
Thamnophis atratus
(species)
Thamnophis couchii
(species) D
SCN4A (Nav1.4)
Thamnophis couchii
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Hebius pryeri
Pryer's keelback - (species) D
Interspecific
Candidate Gene
Feldman CR; Brodie ED; Brodie ED ; et al. (2012)
Constraint shapes convergence in tetrodotoxin-resistant sodium channels of snakes.
1 Additional References
GP00000729
SCN4A
P35499
Physiology
D1227E = D945E in DIII domain
Hebius vibakari
Japanese keelback - (species)
Hebius pryeri
Pryer's keelback - (species) D
SCN4A (Nav1.4)
Hebius pryeri
Pryer's keelback - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000730
SCN4A
P35499
Physiology
G1566A in DIV domain
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000731
SCN4A
P35499
Physiology
I1561V in DIV domain
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000732
SCN4A
P35499
Physiology
I1556L and/or D1568N and/or G1569V
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Mantella aurantiaca
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001573
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Mantella aurantiaca
(species) D
SCN4A (Nav1.4)
Mantella aurantiaca
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates terribilis
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001574
SCN4A
P35499
Physiology
T>G p.S429A in DI-S6 domain
Anura
frogs and toads - (order)
Phyllobates terribilis
(species) D
SCN4A (Nav1.4)
Phyllobates terribilis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates terribilis
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001575
SCN4A
P35499
Physiology
A>G p.I433V in DI-S6 domain
Anura
frogs and toads - (order)
Phyllobates terribilis
(species) D
SCN4A (Nav1.4)
Phyllobates terribilis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Dendrobates tinctorius
dyeing poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001576
SCN4A
P35499
Physiology
A>G p.I433V in DI-S6 domain
Anura
frogs and toads - (order)
Dendrobates tinctorius
dyeing poison frog - (species) D
SCN4A (Nav1.4)
Dendrobates tinctorius
dyeing poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Excidobates captivus
Rio Santiago poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001577
SCN4A
P35499
Physiology
A>G p.I433V in DI-S6 domain
Anura
frogs and toads - (order)
Excidobates captivus
Rio Santiago poison frog - (species) D
SCN4A (Nav1.4)
Excidobates captivus
Rio Santiago poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates terribilis
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001578
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Phyllobates terribilis
(species) D
SCN4A (Nav1.4)
Phyllobates terribilis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Dendrobates tinctorius
dyeing poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001579
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Dendrobates tinctorius
dyeing poison frog - (species) D
SCN4A (Nav1.4)
Dendrobates tinctorius
dyeing poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Excidobates captivus
Rio Santiago poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001580
SCN4A
P35499
Physiology
CC>AA p.A446E in DI-S6 domain
Anura
frogs and toads - (order)
Excidobates captivus
Rio Santiago poison frog - (species) D
SCN4A (Nav1.4)
Excidobates captivus
Rio Santiago poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Ameerega parvula
ruby poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001581
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Ameerega parvula
ruby poison frog - (species) D
SCN4A (Nav1.4)
Ameerega parvula
ruby poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Epipedobates
phantasmal poison frogs - (genus) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001582
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Epipedobates
phantasmal poison frogs - (genus) D
SCN4A (Nav1.4)
Epipedobates
phantasmal poison frogs - (genus)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates
(genus) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001583
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Phyllobates
(genus) D
SCN4A (Nav1.4)
Phyllobates
(genus)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Dendrobates tinctorius
dyeing poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001584
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Dendrobates tinctorius
dyeing poison frog - (species) D
SCN4A (Nav1.4)
Dendrobates tinctorius
dyeing poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Hyloxalus italoi
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001585
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Hyloxalus italoi
(species) D
SCN4A (Nav1.4)
Hyloxalus italoi
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Ameerega
(genus) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001586
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Ameerega
(genus) D
SCN4A (Nav1.4)
Ameerega
(genus)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Silverstoneia flotator
rainforest rocket frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001587
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Silverstoneia flotator
rainforest rocket frog - (species) D
SCN4A (Nav1.4)
Silverstoneia flotator
rainforest rocket frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates terribilis
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001588
SCN4A
P35499
Physiology
C>A p.N1584T in DIV-S6 domain
Anura
frogs and toads - (order)
Phyllobates terribilis
(species) D
SCN4A (Nav1.4)
Phyllobates terribilis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4a gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Takifugu rubripes
torafugu - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
GP00000722
SCN4A
P35499
Physiology
Y401N
Teleostei
teleost fishes - (infraclass)
Takifugu rubripes
torafugu - (species)
SCN4A (Nav1.4a gene copy)
Takifugu rubripes
torafugu - (species)
Published - Accepted by Curator
SCN4A (Nav1.4a gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Tetraodon nigroviridis
spotted green pufferfish - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
GP00000723
SCN4A
P35499
Physiology
Y401C
Teleostei
teleost fishes - (infraclass)
Tetraodon nigroviridis
spotted green pufferfish - (species)
SCN4A (Nav1.4a gene copy)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
SCN4A (Nav1.4b gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Tetraodon nigroviridis
spotted green pufferfish - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
1 Additional References
GP00000733
SCN4A
P35499
Physiology
E945D
Teleostei
teleost fishes - (infraclass)
Tetraodon nigroviridis
spotted green pufferfish - (species)
SCN4A (Nav1.4b gene copy)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
SCN4A (Nav1.4b gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Takifugu rubripes
torafugu - (species)
Interspecific
Candidate Gene
Jost MC; Hillis DM; Lu Y ; et al. (2008)
Toxin-resistant sodium channels: parallel adaptive evolution across a complete gene family.
GP00000734
SCN4A
P35499
Physiology
M1240T
Teleostei
teleost fishes - (infraclass)
Takifugu rubripes
torafugu - (species)
SCN4A (Nav1.4b gene copy)
Takifugu rubripes
torafugu - (species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Viperidae
(family) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001652
SCN8A
A0A1B0Z7A5
Physiology
I1709V in DIV (2x resistance)
Protobothrops flavoviridis
(species)
Viperidae
(family) D
SCN8A (Nav1.6)
Viperidae
(family)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Micrurus fulvius
eastern coral snake - (species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001653
SCN8A
A0A1B0Z7H0
Physiology
I1709V in DIV domain (2x resistance)
Naja kaouthia
monocled cobra - (species)
Micrurus fulvius
eastern coral snake - (species) D
SCN8A (Nav1.6)
Micrurus fulvius
eastern coral snake - (species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Elapsoidea nigra
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001654
SCN8A
A0A1B0Z7G3
Physiology
I1709V in DIV domain (2x resistance)
Naja kaouthia
monocled cobra - (species)
Elapsoidea nigra
(species) D
SCN8A (Nav1.6)
Elapsoidea nigra
(species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Erythrolamprus epinephelus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001655
SCN8A
A0A1B0Z7B3
Physiology
G1717M in DIV domain (not tested)
Erythrolamprus poecilogyrus
(species)
Erythrolamprus epinephelus
(species) D
SCN8A (Nav1.6)
Erythrolamprus epinephelus
(species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Lygophis anomalus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001656
SCN8A
A0A1B0Z7F2
Physiology
V1709I (reversion) in DIV domain (loss of resistance)
Helicops angulatus
(species)
Lygophis anomalus
(species) D
SCN8A (Nav1.6)
Lygophis anomalus
(species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Natricinae
(subfamily) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001657
SCN8A
A0A1B0Z7B0
Physiology
V1709I (reversion) in DIV (loss of resistance)
Hebius pryeri
Pryer's keelback - (species)
Natricinae
(subfamily) D
SCN8A (Nav1.6)
Natricinae
(subfamily)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Anilios bituberculatus
prong-snouted blind snake - (species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001643
SCN9A
Q15858
Physiology
M1392A in DIII domain (not tested)
Anolis carolinensis
green anole - (species)
Anilios bituberculatus
prong-snouted blind snake - (species) D
SCN9A (Nav1.7)
Anilios bituberculatus
prong-snouted blind snake - (species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Henophidia
(superfamily) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001644
SCN9A
Q15858
Physiology
M1392T in DIII (15x resistance)
Anolis carolinensis
green anole - (species)
Henophidia
(superfamily) D
SCN9A (Nav1.7)
Henophidia
(superfamily)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Chrysemys picta
painted turtle - (species) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001645
SCN9A
Q15858
Physiology
D1393P (most probably E>P) in DIII domain (not tested)
Gallus gallus
chicken - (species)
Chrysemys picta
painted turtle - (species) D
SCN9A (Nav1.7)
Chrysemys picta
painted turtle - (species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Carphophis
(genus) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001646
SCN9A
Q15858
Physiology
I1677V in DIV (2x resistance)
Diadophis punctatus
Ringneck snake - (species)
Carphophis
(genus) D
SCN9A (Nav1.7)
Carphophis
(genus)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Chrysemys picta
painted turtle - (species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001647
SCN9A
Q15858
Physiology
A1681G in DIV domain (1.5x resistance)
Gallus gallus
chicken - (species)
Chrysemys picta
painted turtle - (species) D
SCN9A (Nav1.7)
Chrysemys picta
painted turtle - (species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Leptotyphlops
(genus) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001648
SCN9A
Q15858
Physiology
A1681G (1.5x resistance) in DIV
Anilios bituberculatus
prong-snouted blind snake - (species)
Leptotyphlops
(genus) D
SCN9A (Nav1.7)
Leptotyphlops
(genus)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Anolis carolinensis
green anole - (species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001649
SCN9A
Q15858
Physiology
D1684A (most probably N>A) in DIV domain (150x resistance)
Dopasia gracilis
Burmese glass lizard - (species)
Anolis carolinensis
green anole - (species) D
SCN9A (Nav1.7)
Anolis carolinensis
green anole - (species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Epicrates cenchria
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001650
SCN9A
Q15858
Physiology
D1684H (most probably N>H) in DIV domain (not tested)
Boa constrictor
boa - (species)
Epicrates cenchria
(species) D
SCN9A (Nav1.7)
Epicrates cenchria
(species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Leptotyphlops
(genus) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001651
SCN9A
Q15858
Physiology
G1685Y (not tested) in DIV
Anilios bituberculatus
prong-snouted blind snake - (species)
Leptotyphlops
(genus) D
SCN9A (Nav1.7)
Leptotyphlops
(genus)
Published - Accepted by Curator
SCR
Self-incompatibility (loss)
Coding,
Inversion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Tsuchimatsu T; Suwabe K; Shimizu-Inatsugi R ; et al. (2010)
Evolution of self-compatibility in Arabidopsis by a mutation in the male specificity gene.
1 Additional References
GP00001271
SCRA
P0CG07
Physiology
213 bp inversion causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
SCR
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
SCRB15
Coloration (silk; carotenoids)
Coding,
Insertion
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Sakudoh T; Kuwazaki S; Iizuka T ; et al. (2013)
CD36 homolog divergence is responsible for the selectivity of carotenoid species migration to the si[...]
GP00001904
SCRB15
K7ZRZ1
Morphology
In the F mutant SCRB15 mRNA structure was severely disrupted due to a 1.4 kb genomic insertion in a coding exon N
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
SCRB15
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (height)
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Asano K; Yamasaki M; Takuno S ; et al. (2011)
Artificial selection for a green revolution gene during japonica rice domestication.
GP00001027
GA20OX2
Q0JH50
Morphology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
3 Additional References
GP00001028
GA20OX2
Q0JH50
Morphology
383bp deletion introducing premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
GP00001029
GA20OX2
Q0JH50
Morphology
G94V
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
GP00001030
GA20OX2
Q0JH50
Morphology
D349H
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
GP00001031
GA20OX2
Q0JH50
Morphology
L266F
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
se5
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Izawa T; Oikawa T; Tokutomi S ; et al. (2000)
Phytochromes confer the photoperiodic control of flowering in rice (a short-day plant).
GP00001034
HO1
Q69XJ4
Physiology
1bp deletion in exon 1; causes a frameshift and a premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
se5
Oryza sativa
rice - (species)
Published - Accepted by Curator
self-pruning (sp)
Vegetative/Reproductive state switch
Coding,
SNP
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Pnueli L; Carmel-Goren L; Hareven D ; et al. (1998)
The SELF-PRUNING gene of tomato regulates vegetative to reproductive switching of sympodial meristem[...]
GP00001035
SP
O82088
Morphology
P76L due to CCT->CTT
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
self-pruning (sp)
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Serine/threonine protein kinase RIM15
Nitrogen use (growth efficiency)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Ibstedt S; Stenberg S; Bagés S ; et al. (2015)
Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.
GP00001500
RIM15
P43565
Physiology
2 bp insertion 459_460insCA shifting the reading frame to cause an early stop codon (null allele) N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Serine/threonine protein kinase RIM15
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SG3/At4g30720
Growth (shoots)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Vlad D; Rappaport F; Simon M ; et al. (2010)
Gene transposition causing natural variation for growth in Arabidopsis thaliana.
GP00001036
PDE327
F4JQE2
Physiology
Premature stop codon at the SG3 locus in Bur-0 (a 1bp deletion in exon four of At4g30720 results in a frame shift; predicting a premature stop codon which terminates the ORF after 5 amino acids); but in this accession this gene has a functional copy at a N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
SG3/At4g30720
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
SGK3
Hair (hypotrichosis)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Parker HG; Harris A; Dreger DL ; et al. (2017)
The bald and the beautiful: hairlessness in domestic dog breeds.
GP00002262
Sgk3
Q9ERE3
Morphology
Val96GlyfsTer50 deletion that removes four bases (TTAG) within exon 4 ; creating a new protein sequence for 50 amino acids and a premature stop at amino acid 157 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SGK3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SGK3
Hair (hypotrichosis)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Hytönen MK; Lohi H (2019)
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate g[...]
1 Additional References
GP00002263
Sgk3
Q9ERE3
Morphology
c.137_138insT p.Glu47GlyfsTer3 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SGK3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SGLT1
Starch processing
Coding,
Unknown
Canis lupus familiaris
dog - (subspecies)
Domesticated
Association Mapping
Axelsson E; Ratnakumar A; Arendt ML ; et al. (2013)
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
GP00001037
Slc5a1
Q9QXI6
Physiology
unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
SGLT1
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Shattering1 - Sh1
Seed shattering
Coding,
Deletion
N
Sorghum bicolor
sorghum - (species) D
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001040
YAB2
Q10FZ7
Physiology
2.2kb deletion at the location of exons 2 and 3 N
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species) D
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Shattering1 - Sh1
Seed shattering
Coding,
Complex Change
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001041
YAB2
Q10FZ7
Physiology
two promoter variants at positions -1194 and -1185
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species)
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Shattering1 - Sh1
Seed shattering
Coding,
SNP
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001042
YAB2
Q10FZ7
Physiology
GT-to-GG splice-site variant
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species)
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Shattering1 - ZmSh1-1
Seed shattering
Coding,
Complex Change
Zea mays
(species)
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001043
YAB2
Q10FZ7
Physiology
complex structural variations
Zea mays
(species)
Zea mays
(species)
Shattering1 - ZmSh1-1
Zea mays
(species)
Published - Accepted by Curator
Shattering1 - ZmSh1-5.1 + ZmSh1-5.2
Seed shattering
Coding,
Unknown
Zea mays
(species)
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001044
YAB2
Q10FZ7
Physiology
various structural variations
Zea mays
(species)
Zea mays
(species)
Shattering1 - ZmSh1-5.1 + ZmSh1-5.2
Zea mays
(species)
Published - Accepted by Curator
shattering4 - sh4
Seed shattering
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Li C; Zhou A; Sang T (2006)
Rice domestication by reducing shattering.
GP00001046
sh4
Q1PIH9
Physiology
Asn -> Lys
Oryza rufipogon
(species)
Oryza sativa
rice - (species)
shattering4 - sh4
Oryza sativa
rice - (species)
Published - Accepted by Curator
SHELL
Fruit shell thickness
Coding,
SNP
Elaeis guineensis
African oil palm - (species)
Domesticated
Linkage Mapping
Singh R; Low ET; Ooi LC ; et al. (2013)
The oil palm SHELL gene controls oil yield and encodes a homologue of SEEDSTICK.
GP00001047
AGL11
Q38836
Morphology
1a.a substitution in DNA binding domain
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species)
SHELL
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
SHELL
Fruit shell thickness
Coding,
SNP
Elaeis guineensis
African oil palm - (species)
Domesticated
Candidate Gene
Singh R; Low ET; Ooi LC ; et al. (2013)
The oil palm SHELL gene controls oil yield and encodes a homologue of SEEDSTICK.
GP00001048
AGL11
Q38836
Morphology
1a.a substitution in DNA binding domain
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species)
SHELL
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
SIGLEC17P (pseudogene)
Pathogen resistance
Coding,
Deletion
N
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Wang X; Mitra N; Secundino I ; et al. (2012)
Specific inactivation of two immunomodulatory SIGLEC genes during human evolution.
GP00001053
SIGLEC13
Q64JA4
Physiology
1bp deletion resulting in frame-shift (pseudogenization) N
Primates
(order)
Homo sapiens
human - (species) D
SIGLEC17P (pseudogene)
Homo sapiens
human - (species)
Published - Accepted by Curator
SIR2
Longevity
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00001054
SIR2
P06700
Physiology
1 to 5 amino-acid substitutions
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
SIR2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SKC1 =OsHKT1
Salt tolerance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ren ZH; Gao JP; Li LG ; et al. (2005)
A rice quantitative trait locus for salt tolerance encodes a sodium transporter.
GP00001055
HKT8
A2WNZ9
Physiology
several candidate missense mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
SKC1 =OsHKT1
Oryza sativa
rice - (species)
Published - Accepted by Curator
SLC24A
Coloration (eyes)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Mack M; Kowalski E; Grahn R ; et al. (2017)
Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino [...]
GP00002276
Slc24a5
Q8C261
Morphology
628 bp deletion encompassing all of exon 7 of SLC24A5 (c.875-340_1081+82del) N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC24A
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC24A
Coloration (eyes)
Coding,
SNP
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Mack M; Kowalski E; Grahn R ; et al. (2017)
Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino [...]
GP00002277
Slc24a5
Q8C261
Morphology
c.272A>T p.Phe91Tyr N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC24A
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC24A5 (NCKX5)
Coloration (eyes; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lamason RL; Mohideen MA; Mest JR ; et al. (2005)
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.
5 Additional References
GP00001056
Slc24a5
Q8C261
Morphology
Ala111Thr
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC24A5 (NCKX5)
Homo sapiens
human - (species)
Published - Accepted by Curator
slc2a11b
Coloration (eyes)
Coding,
SNP
N
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Maclary ET; Phillips B; Wauer R ; et al. (2021)
Two Genomic Loci Control Three Eye Colors in the Domestic Pigeon (Columba livia).
2 Additional References
GP00002367
slc2a11b
F6P601
Morphology
"The premature stop codon in pearl-eyed pigeons falls in exon 3 of SLC2A11B, and is predicted to severely truncate the resulting protein from 504 to 57 amino acids."
"Based on genotypes at the two coding SNPs in the pearl eye haplotype, we found that gene expression in embryo head samples only shows changes associated with the pearl eye haplotype in SLC2A11B, and not in any other genes within 15 kb of the pearl eye haplotype, further supporting SLC2A11B as the primary candidate for the pearl eye phenotype (supplementary fig. S3A, Supplementary Material online). Embryo heads homozygous for the pearl allele show a significant reduction in SLC2A11B expression (P = 3.94 × 10−6, two-tailed t-test; supplementary fig. S3B, Supplementary Material online). Analysis of read distribution within the SLC2A11B gene shows a decrease in spliced reads specifically within the first three annotated exons, suggesting that alternative splicing or nonsense-mediated decay may be occurring (supplementary fig. S3D, Supplementary Material online)." N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
slc2a11b
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SLC36A1
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Cook D; Brooks S; Bellone R ; et al. (2008)
Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.
GP00002278
SLC36A1
Q7Z2H8
Morphology
c.188C>G p.T63R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC36A1
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Mariat D; Taourit S; Guérin G (2003 Jan-Feb)
A mutation in the MATP gene causes the cream coat colour in the horse.
GP00001057
SLC45A2
Q9UMX9
Morphology
c.457G>A p.(Asp153Asn)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001058
SLC45A2
Q9UMX9
Morphology
G->T transversion at the splice acceptor site just preceding exon 4; causes in-frame skipping of exon 4
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
SLC45A2=MATP
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001059
SLC45A2
Q9UMX9
Morphology
1bp deletion at codon 36; resulting in frameshift and a premature stop codon in exon 1; the corresponding mRNA appears to be degraded by Nonsense-mediated mRNA decay. N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; fur)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Linkage Mapping
Du J; Fisher DE (2002)
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF.
GP00001060
SLC45A2
Q9UMX9
Morphology
N153D
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
SLC45A2=MATP
Mus musculus
house mouse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Graf J; Hodgson R; van Daal A (2005)
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation varia[...]
3 Additional References
GP00001061
SLC45A2
Q9UMX9
Morphology
Phe374Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC45A2=MATP
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001062
SLC45A2
Q9UMX9
Morphology
His341Arg
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SLC45A2=MATP
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Panthera tigris
tiger - (species) D
Intraspecific
Association Mapping
Xu X; Dong GX; Hu XS ; et al. (2013)
The genetic basis of white tigers.
GP00001063
SLC45A2
Q9UMX9
Morphology
A477V
Panthera tigris
tiger - (species)
Panthera tigris
tiger - (species) D
SLC45A2=MATP
Panthera tigris
tiger - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Rothammer S; Kunz E; Seichter D ; et al. (2017)
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocuta[...]
GP00002036
SLC45A2
Q9UMX9
Morphology
exact causing mutation(s) unknown - two possible amino acid changes
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
SLC45A2=MATP
Bos taurus
cattle - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (albinism)
Coding,
Insertion
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Linkage Mapping
Fukamachi S; Shimada A; Shima A (2001)
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka.
GP00002286
SLC45A2
Q9UMX9
Morphology
tandem insertion of 195 nt identical to the adjacent ORF sequence. This tandem repeat produces an insertion of 65 amino acids
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
SLC45A2=MATP
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002294
SLC45A2
Q9UMX9
Morphology
c.1039C>A p.L347M N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002295
SLC45A2
Q9UMX9
Morphology
c.830A>G p.Y277C N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Winkler PA; Gornik KR; Ramsey DT ; et al. (2014)
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.
GP00002296
SLC45A2
Q9UMX9
Morphology
4081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Wijesena HR; Schmutz SM (2015 May-Jun)
A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds.
GP00002297
SLC45A2
Q9UMX9
Morphology
c.1478G>A p.G493D N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Caduff M; Bauer A; Jagannathan V ; et al. (2017)
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.
GP00002298
SLC45A2
Q9UMX9
Morphology
c.1287delC p.Met430CysfsTer4 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Sevane N; Sanz CR; Dunner S (2019)
Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution [...]
GP00002304
SLC45A2
Q9UMX9
Morphology
c.985G>A p.(Ala329Thr)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Holl HM; Pflug KM; Yates KM ; et al. (2019)
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and s[...]
GP00002305
SLC45A2
Q9UMX9
Morphology
c.568G>A p.(Gly190Arg)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Holl HM; Pflug KM; Yates KM ; et al. (2019)
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and s[...]
GP00002306
SLC45A2
Q9UMX9
Morphology
c.305G>A p.(Arg102Gln)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002307
SLC45A2
Q9UMX9
Morphology
c.287C>A p.A72D
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
SLC45A2=MATP
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
SlMYBATV
Coloration (anthocyanin accumulation in fruits)
Coding,
Insertion
N
Solanum cheesmaniae
(species) D
Intraspecific
Linkage Mapping
Cao X; Qiu Z; Wang X ; et al. (2017)
A putative R3 MYB repressor is the candidate gene underlying atroviolacium, a locus for anthocyanin [...]
GP00001906
CPC
O22059
Morphology; Physiology
SlMYBATV encodes a R3 MYB transcription factor. 4-bp insertion predicted to result in a frame-shift that would alter the protein sequence from amino-acid position 20 onwards by inducing premature termination of translation including the R3/bHLH-binding domain N
Solanum lycopersicum
tomato - (species)
Solanum cheesmaniae
(species) D
SlMYBATV
Solanum cheesmaniae
(species)
Published - Accepted by Curator
SLY41
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001712
SLY41
P22215
Physiology
Trp253Leu (G>T at position 893332 according to Table 1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
SLY41
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SOD1
Xenobiotic resistance (paraquat)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Tsakas SC; Loukas M ; et al. (2001)
Low-activity allele of copper-zinc superoxide dismutase (CuZnSOD) in Drosophila increases paraquat g[...]
GP00001985
Sod1
P61851
Physiology
Insertion of a 0.68kb truncated P-element 47bp downstream of the transcription start site.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
SOD1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Starch branching enzyme (SBEI) = rugosus (R)
Starch structure
Seed aspect
Coding,
Insertion
N
Pisum sativum
pea - (species) D
Domesticated
Linkage Mapping
Bhattacharyya MK; Smith AM; Ellis TH ; et al. (1990)
The wrinkled-seed character of pea described by Mendel is caused by a transposon-like insertion in a[...]
GP00001078
SBEI
Q41058
Physiology
Morphology
800 bp TE insertion; probably disrupts the last 61 amino acids of the SBEI protein N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species) D
Starch branching enzyme (SBEI) = rugosus (R)
Pisum sativum
pea - (species)
Published - Accepted by Curator
StCDF1
Latitudinal adaptation
Coding,
Insertion
N
Solanum tuberosum
potato - (species) D
Domesticated
Linkage Mapping
Kloosterman B; Abelenda JA; Gomez Mdel M ; et al. (2013)
Naturally occurring allele diversity allows potato cultivation in northern latitudes.
GP00001079
CDF1
Q8W1E3
Physiology
+7bp insertion resulting in frameshift and truncated protein N
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species) D
StCDF1
Solanum tuberosum
potato - (species)
Published - Accepted by Curator
StCDF1
Latitudinal adaptation
Coding,
Insertion
Solanum tuberosum
potato - (species) D
Domesticated
Linkage Mapping
Kloosterman B; Abelenda JA; Gomez Mdel M ; et al. (2013)
Naturally occurring allele diversity allows potato cultivation in northern latitudes.
GP00001080
CDF1
Q8W1E3
Physiology
865bp insertion leading to a fusion protein
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species) D
StCDF1
Solanum tuberosum
potato - (species)
Published - Accepted by Curator
str-217
Xenobiotic resistance (insecticide; DEET)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Candidate Gene
Dennis EJ; Dobosiewicz M; Jin X ; et al. (2018)
A natural variant and engineered mutation in a GPCR promote DEET resistance in C. elegans.
GP00001783
str-217
Q9XX85
Physiology
deletion that leads to a predicted frame shift and early stop codon - the predicted resulting protein has only one transmembrane domain instead of the 7 transmembrane domains - 138-bp deletion in exon 2 and 3 and intervening intron according to https://www.wormbase.org/species/c_elegans/variation/WBVar02076179#02-45-3 and email from Emily Dennis from 9 March 2019 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
str-217
Caenorhabditis elegans
(species)
Published - Accepted by Curator
str-217
Xenobiotic resistance (insecticide; DEET)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Candidate Gene
Dennis EJ; Dobosiewicz M; Jin X ; et al. (2018)
A natural variant and engineered mutation in a GPCR promote DEET resistance in C. elegans.
GP00001784
str-217
Q9XX85
Physiology
on chromosome V position 17000292 G>A stop_gained 13C>T - Gln5* N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
str-217
Caenorhabditis elegans
(species)
Published - Accepted by Curator
sugary 1 (su1) = isoamylase-type starch-debranching enzymes
Fruit sugar content
Coding,
SNP
Zea mays
(species)
Domesticated
Candidate Gene
Dinges JR; Colleoni C; Myers AM ; et al. (2001)
Molecular structure of three mutations at the maize sugary1 locus and their allele-specific phenotyp[...]
1 Additional References
GP00001082
sugary1
O22637
Physiology
F163L and/or W578R; W738R is more likely to be the mutation responsible as it affect a residue conserved in plants and bacteria
Zea mays
(species)
Zea mays
(species)
sugary 1 (su1) = isoamylase-type starch-debranching enzymes
Zea mays
(species)
Published - Accepted by Curator
Sulfotransferase-OXA-Resistance (SULT-OR)
Xenobiotic resistance (oxamniquine)
Coding,
Deletion
Schistosoma mansoni
(species) D
Intraspecific
Linkage Mapping
Valentim CL; Cioli D; Chevalier FD ; et al. (2013)
Genetic and molecular basis of drug resistance and species-specific drug action in schistosome paras[...]
GP00001470
SULT-OR
G4VLE5
Physiology
E142del
Schistosoma mansoni
(species)
Schistosoma mansoni
(species) D
Sulfotransferase-OXA-Resistance (SULT-OR)
Schistosoma mansoni
(species)
Published - Accepted by Curator
Sulfotransferase-OXA-Resistance (SULT-OR)
Xenobiotic resistance (oxamniquine)
Coding,
SNP
Schistosoma mansoni
(species) D
Intraspecific
Linkage Mapping
Valentim CL; Cioli D; Chevalier FD ; et al. (2013)
Genetic and molecular basis of drug resistance and species-specific drug action in schistosome paras[...]
GP00001471
SULT-OR
G4VLE5
Physiology
C35R (T>C)
Schistosoma mansoni
(species)
Schistosoma mansoni
(species) D
Sulfotransferase-OXA-Resistance (SULT-OR)
Schistosoma mansoni
(species)
Published - Accepted by Curator
Sulfotransferase-OXA-Resistance (SULT-OR)
Xenobiotic resistance (oxamniquine)
Coding,
SNP
Schistosoma mansoni
(species)
Intraspecific
Candidate Gene
Valentim CL; Cioli D; Chevalier FD ; et al. (2013)
Genetic and molecular basis of drug resistance and species-specific drug action in schistosome paras[...]
GP00001472
SULT-OR
G4VLE5
Physiology
F39 Sm > Y54 Sh (T>A) TTT>TAT
Schistosoma mansoni
(species)
Schistosoma mansoni
(species)
Sulfotransferase-OXA-Resistance (SULT-OR)
Schistosoma mansoni
(species)
Published - Accepted by Curator
SVP (SHORT VEGETATIVE PHASE)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Méndez-Vigo B; Martínez-Zapater JM; Alonso-Blanco C (2013)
The flowering repressor SVP underlies a novel Arabidopsis thaliana QTL interacting with the genetic [...]
GP00001087
SVP
Q9FVC1
Physiology
Ala32Val
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
SVP (SHORT VEGETATIVE PHASE)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Linkage Mapping
Coste A; Turner V; Ischer F ; et al. (2006)
A mutation in Tac1p, a transcription factor regulating CDR1 and CDR2, is coupled with loss of hetero[...]
GP00001090
TAC1
A7IZW4
Physiology
N977D
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Coding,
Deletion
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001092
TAC1
A7IZW4
Physiology
1a.a. deletion
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Coding,
Deletion
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001093
TAC1
A7IZW4
Physiology
7a.a. deletion
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001094
TAC1
A7IZW4
Physiology
G980E
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001095
TAC1
A7IZW4
Physiology
A736V
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001096
TAC1
A7IZW4
Physiology
T225A
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAF5
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001710
TAF5
P38129
Physiology
Gly693Val (G>T at position 616441 according to Table 1) - GGN to GTN position 616441
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
TAF5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
TaPHS1
Seed dormancy
Coding,
SNP
N
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Liu S; Sehgal SK; Li J ; et al. (2013)
Cloning and characterization of a critical regulator for preharvest sprouting in wheat.
GP00001104
PHS1
D2J2Y0
Physiology
GT-to-AT transition at the 5_ donor splice site (position +646) of intron 3 AND Premature Stop Codon (position +666) N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
TaPHS1
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Taqpep
Coloration (coat)
Coding,
Insertion
N
Acinonyx jubatus
cheetah - (species) D
Intraspecific
Candidate Gene
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001105
Lvrn
Q2KHK3
Morphology
1bp insertion resulting in frameshift p.N977Kfs110 N
Acinonyx jubatus
cheetah - (species)
Acinonyx jubatus
cheetah - (species) D
Taqpep
Acinonyx jubatus
cheetah - (species)
Published - Accepted by Curator
Taqpep
Coloration (coat)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001106
Lvrn
Q2KHK3
Morphology
D228N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Taqpep
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Taqpep
Coloration (coat)
Coding,
SNP
N
Felis catus
domestic cat - (species)
Intraspecific
Candidate Gene
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001107
Lvrn
Q2KHK3
Morphology
S59stop N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species)
Taqpep
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Taqpep
Coloration (coat)
Coding,
SNP
N
Felis catus
domestic cat - (species)
Intraspecific
Linkage Mapping
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001108
Lvrn
Q2KHK3
Morphology
W841stop N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species)
Taqpep
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TAS1R1
Taste sensitivity (sugar)
Coding,
Unknown
Calypte anna
Anna's hummingbird - (species) D
Interspecific
Candidate Gene
Baldwin MW; Toda Y; Nakagita T ; et al. (2014)
Sensory biology. Evolution of sweet taste perception in hummingbirds by transformation of the ancest[...]
GP00001307
T1R1
A0A088DBT6
Physiology
unknown
Gallus gallus
chicken - (species)
Calypte anna
Anna's hummingbird - (species) D
TAS1R1
Calypte anna
Anna's hummingbird - (species)
Published - Accepted by Curator
TAS1R1
Taste sensitivity (umami)
Coding,
Deletion
N
Ailurus fulgens
lesser panda - (species) D
Interspecific
Candidate Gene
Hu Y; Wu Q; Ma S ; et al. (2017)
Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas.
GP00001415
Tas1r1
Q99PG6
Physiology
1bp deletion (deletion of a C) in the sixth exon; N
Ursus maritimus
polar bear - (species)
Ailurus fulgens
lesser panda - (species) D
TAS1R1
Ailurus fulgens
lesser panda - (species)
Published - Accepted by Curator
TAS1R1
Taste sensitivity (umami)
Coding,
Deletion
N
Ailuropoda melanoleuca
giant panda - (species) D
Interspecific
Candidate Gene
Li R; Fan W; Tian G ; et al. (2010)
The sequence and de novo assembly of the giant panda genome.
2 Additional References
GP00001416
Tas1r1
Q99PG6
Physiology
pseudogene due to three indel mutations in the third and sixth exons. The giant panda has one 2-bp insertion on the third exon and two deletions (6-bp and 4-bp) on the sixth exon, N
Ursus maritimus
polar bear - (species)
Ailuropoda melanoleuca
giant panda - (species) D
TAS1R1
Ailuropoda melanoleuca
giant panda - (species)
Published - Accepted by Curator
TAS1R2
Taste sensitivity (sugar)
Coding,
Deletion
N
Felidae
cat family - (family) D
Intergeneric or Higher
Candidate Gene
Li X; Li W; Wang H ; et al. (2005)
Pseudogenization of a sweet-receptor gene accounts for cats' indifference toward sugar.
1 Additional References
GP00001109
TAS1R2
Q8TE23
Physiology
247bp deletion in exon 3 and stop codons in exons 4 and 6. N
Mammalia
mammals - (class)
Felidae
cat family - (family) D
TAS1R2
Felidae
cat family - (family)
Published - Accepted by Curator
TAS1R3
Taste sensitivity (sugar)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Linkage Mapping
Max M; Shanker YG; Huang L ; et al. (2001)
Tas1r3, encoding a new candidate taste receptor, is allelic to the sweet responsiveness locus Sac.
1 Additional References
GP00001110
TAS1R3
Q7RTX0
Physiology
I60T; is predicted to introduce a novel N-linked glycosylation site which might interfere with receptor dimerization
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
TAS1R3
Mus musculus
house mouse - (species)
Published - Accepted by Curator
TAS1R3
Taste sensitivity (sugar)
Coding,
SNP
Calypte anna
Anna's hummingbird - (species) D
Interspecific
Candidate Gene
Baldwin MW; Toda Y; Nakagita T ; et al. (2014)
Sensory biology. Evolution of sweet taste perception in hummingbirds by transformation of the ancest[...]
GP00001306
T1R3
A0A088DCH0
Physiology
19 nonconsecutive amino acids confer sugar responsiveness and they are confined to three different regions of the protein - change(s) in all 3 regions are required for the acquisition of sugar binding- The exact effect of each single amino acid change has not been tested
Gallus gallus
chicken - (species)
Calypte anna
Anna's hummingbird - (species) D
TAS1R3
Calypte anna
Anna's hummingbird - (species)
Published - Accepted by Curator
TAS2R16
Taste sensitivity (bitter)
Coding,
SNP
Lemur catta
Ring-tailed lemur - (species) D
Intergeneric or Higher
Candidate Gene
Itoigawa A; Hayakawa T; Suzuki-Hashido N ; et al. (2019)
A natural point mutation in the bitter taste receptor TAS2R16 causes inverse agonism of arbutin in l[...]
GP00001956
Behavior; Physiology
Ser282Leu TCG>TTG
Varecia variegata
ruffed lemur - (species)
Eulemur macaco
black lemur - (species)
Eulemur flavifrons
Sclater's lemur - (species)
Eulemur fulvus
brown lemur - (species)
Lemur catta
Ring-tailed lemur - (species) D
TAS2R16
Lemur catta
Ring-tailed lemur - (species)
Published - Accepted by Curator
TAS2R16
Taste sensitivity (bitter)
Coding,
SNP
Varecia variegata
ruffed lemur - (species) D
Eulemur macaco
black lemur - (species) D
Eulemur fulvus
brown lemur - (species) D
Nycticebus pygmaeus
pygmy slow loris - (species) D
Intergeneric or Higher
Candidate Gene
Itoigawa A; Hayakawa T; Suzuki-Hashido N ; et al. (2019)
A natural point mutation in the bitter taste receptor TAS2R16 causes inverse agonism of arbutin in l[...]
GP00001957
Behavior; Physiology
Ser282Leu TCG>TTG
Carlito syrichta
Philippine tarsier - (species)
Trachypithecus poliocephalus
White-headed langur - (species)
Varecia variegata
ruffed lemur - (species) D
Eulemur macaco
black lemur - (species) D
Eulemur fulvus
brown lemur - (species) D
Nycticebus pygmaeus
pygmy slow loris - (species) D
TAS2R16
Varecia variegata
ruffed lemur - (species)
Eulemur macaco
black lemur - (species)
Eulemur fulvus
brown lemur - (species)
Nycticebus pygmaeus
pygmy slow loris - (species)
Published - Accepted by Curator
TAS2R38
Taste sensitivity (bitter)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kim UK; Jorgenson E; Coon H ; et al. (2003)
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthioc[...]
1 Additional References
GP00001111
TAS2R38
P59533
Physiology
P49A and/or A262V and/or V296I
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TAS2R38
Homo sapiens
human - (species)
Published - Accepted by Curator
TAS2R38
Taste sensitivity (bitter)
Coding,
SNP
Pan troglodytes
chimpanzee - (species)
Intraspecific
Candidate Gene
Wooding S; Bufe B; Grassi C ; et al. (2006)
Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
GP00001112
TAS2R38
P59533
Physiology
M1R; eliminates start codon; protein initiates at later Met. Protein apparently null for signalling
Pan troglodytes
chimpanzee - (species)
Pan troglodytes
chimpanzee - (species)
TAS2R38
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Zhi D; Da L; Liu M ; et al. (2018)
Whole Genome Sequencing of Hulunbuir Short-Tailed Sheep for Identifying Candidate Genes Related to t[...]
1 Additional References
GP00002289
Tbxt
P20293
Morphology
c.G334T p.G112W
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
TBXT
Ovis aries
sheep - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002290
Tbxt
P20293
Morphology
c.1169delC N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002291
Tbxt
P20293
Morphology
c.1199delC N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002292
Tbxt
P20293
Morphology
c.998delT N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
Indel
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Buckingham KJ; McMillin MJ; Brassil MM ; et al. (2013)
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
GP00002293
Tbxt
P20293
Morphology
c.998_1014dup17delGCC N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TBXT
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Linkage Mapping
Haworth K; Putt W; Cattanach B ; et al. (2001)
Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target[...]
3 Additional References
GP00002340
Tbxt
P20293
Morphology
c.189C>G p.I63M
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
TBXT
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
teosinte branched 1 (tb1) = IntC
Plant architecture
Inflorescence architecture
Coding,
Unknown
Hordeum vulgare
(species)
Domesticated
Association Mapping
Ramsay L; Comadran J; Druka A ; et al. (2011)
INTERMEDIUM-C, a modifier of lateral spikelet fertility in barley, is an ortholog of the maize domes[...]
GP00001117
TB1
Q93WI2
Morphology
Morphology
Large haplotypes; unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
teosinte branched 1 (tb1) = IntC
Hordeum vulgare
(species)
Published - Accepted by Curator
teosinte glume architecture (tga1)
Cupule retraction
Coding,
SNP
Zea mays
(species)
Domesticated
Linkage Mapping
Wang H; Nussbaum-Wagler T; Li B ; et al. (2005)
The origin of the naked grains of maize.
GP00001118
TGA1
Q39237
Morphology
K6N; the lysine residue being conserved in rice and wheat
Zea mays
(species)
Zea mays
(species)
teosinte glume architecture (tga1)
Zea mays
(species)
Published - Accepted by Curator
tetraspanin
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Association Mapping
Jin L; Wang J; Guan F ; et al. (2018)
Dominant point mutation in a tetraspanin gene associated with field-evolved resistance of cotton bol[...]
GP00002468
Tsp2A
O46101
Physiology
L31S due to a nucleotide substitution T92C. CRISPR knockout of the tetraspanin gene restored susceptibility to a resistant strain whereas inserting the mutation conferred 125-fold resistance in a susceptible strain.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
tetraspanin
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
TFL1 / HvCEN
Growth determination habit
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Comadran J; Kilian B; Russell J ; et al. (2012)
Natural variation in a homolog of Antirrhinum CENTRORADIALIS contributed to spring growth habit and [...]
GP00001119
TFL1
P93003
Physiology
P135A
Hordeum vulgare
(species)
Hordeum vulgare
(species)
TFL1 / HvCEN
Hordeum vulgare
(species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001121
TFL1
P93003
Physiology
R62S
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Candidate Gene
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001122
TFL1
P93003
Physiology
P113L
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Candidate Gene
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001123
TFL1
P93003
Physiology
R130K
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Candidate Gene
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001124
TFL1
P93003
Physiology
R166W
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
Thermo-tolerance 1 (TT1)
Temperature tolerance
Coding,
SNP
Oryza glaberrima
African rice - (species) D
Interspecific
Linkage Mapping
Li XM; Chao DY; Wu Y ; et al. (2015)
Natural alleles of a proteasome α2 subunit gene contribute to thermotolerance and adaptation of Afri[...]
GP00001566
PAB1
Q10KF0
Physiology
p.R99H
Oryza sativa
rice - (species)
Oryza glaberrima
African rice - (species) D
Thermo-tolerance 1 (TT1)
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
thioester-containing protein 1
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
Unknown
Anopheles coluzzii
(species)
Intraspecific
Linkage Mapping
Blandin SA; Wang-Sattler R; Lamacchia M ; et al. (2009)
Dissecting the genetic basis of resistance to malaria parasites in Anopheles gambiae.
1 Additional References
GP00001125
TEP-I
Q9GYW4
Physiology
coding change - exact causing mutation(s) unknown
Anopheles gambiae
African malaria mosquito - (species)
Anopheles coluzzii
(species)
thioester-containing protein 1
Anopheles coluzzii
(species)
Published - Accepted by Curator
THOUSAND-GRAIN WEIGHT 6 (TGW6)
Grain yield
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Ishimaru K; Hirotsu N; Madoka Y ; et al. (2013)
Loss of function of the IAA-glucose hydrolase gene TGW6 enhances rice grain weight and increases yie[...]
GP00001126
TGW6
Q69U01
Morphology
-1bp at +313 resulting in truncated protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
THOUSAND-GRAIN WEIGHT 6 (TGW6)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Thyroid stimulating hormone receptor
Metabolism
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Rubin CJ; Zody MC; Eriksson J ; et al. (2010)
Whole-genome resequencing reveals loci under selection during chicken domestication.
1 Additional References
GP00001127
TSHR
P16473
Physiology
Gly558Arg
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Thyroid stimulating hormone receptor
Gallus gallus
chicken - (species)
Published - Accepted by Curator
TICAM1
Pathogen resistance (Trypanosoma)
Coding,
Unknown
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Noyes H; Brass A; Obara I ; et al. (2011)
Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypa[...]
GP00001128
TICAM1
Q8IUC6
Physiology
unknown
Bos
oxen, cattle - (genus)
Bos taurus
cattle - (species)
TICAM1
Bos taurus
cattle - (species)
Published - Accepted by Curator
timeless (tim)
Diapause
Locomotor activity
Coding,
Insertion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Tauber E; Zordan M; Sandrelli F ; et al. (2007)
Natural selection favors a newly derived timeless allele in Drosophila melanogaster.
1 Additional References
GP00001129
TIMELESS
Q9UNS1
Physiology
Behavior; Physiology
1bp insertion; allows production of longer protein from upstream start codon N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
timeless (tim)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
TMEM154
Pathogen resistance (lentivirus)
Coding,
SNP
Ovis aries
sheep - (species) D
Intraspecific
Association Mapping
Heaton MP; Clawson ML; Chitko-Mckown CG ; et al. (2012)
Reduced lentivirus susceptibility in sheep with TMEM154 mutations.
GP00002242
TMEM154
Q6P9G4
Physiology
Mutation at conserved position associated to resistance in homozygous state
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
TMEM154
Ovis aries
sheep - (species)
Published - Accepted by Curator
TMEM263
Body size (dwarfism)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Wu Z; Derks MFL; Dibbits B ; et al. (2018)
A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chi[...]
GP00002161
Physiology
g.53688583C>T c.433G>A p.Trp59∗ N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
TMEM263
Gallus gallus
chicken - (species)
Published - Accepted by Curator
TMPRSS6
Hematopoiesis (mean blood corpuscular hemoglobin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001618
TMPRSS6
Q8IU80
Physiology
T>C at the associated SNP. Another SNP variant in strong LD p.V736A previously reported to influence iron homeostasis
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TMPRSS6
Homo sapiens
human - (species)
Published - Accepted by Curator
TPCN2
Coloration (coat)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2008)
Two newly identified genetic determinants of pigmentation in Europeans.
GP00001131
TPCN2
Q8NHX9
Morphology
Met484Leu and/or Gly734Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TPCN2
Homo sapiens
human - (species)
Published - Accepted by Curator
TPD3
Cell size
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001499
TPD3
P31383
Physiology
C>T p.Q557* heterozygous nonsense mutation which may cause the larger cell size N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
TPD3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
tra-3 calpain-like protease
Body size (temperature-size interaction)
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Kammenga JE; Doroszuk A; Riksen JA ; et al. (2007)
A Caenorhabditis elegans wild type defies the temperature-size rule owing to a single nucleotide pol[...]
GP00001133
tra-3
Q22036
Physiology
F96L
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
tra-3 calpain-like protease
Caenorhabditis elegans
(species)
Published - Accepted by Curator
TRIM5alpha
Pathogen resistance (retroviruses)
Coding,
SNP
Cercopithecidae
Old World monkeys - (family)
Intraspecific
Candidate Gene
Newman RM; Hall L; Connole M ; et al. (2006)
Balancing selection and the evolution of functional polymorphism in Old World monkey TRIM5alpha.
GP00001135
TRIM5
Q9C035
Physiology
several a.a. substitutions with retrovirus-specific activities; under balancing selection in several species
Cercopithecidae
Old World monkeys - (family)
Cercopithecidae
Old World monkeys - (family)
TRIM5alpha
Cercopithecidae
Old World monkeys - (family)
Published - Accepted by Curator
TRK1
Salt tolerance (ammonium)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Reisser C; Dick C; Kruglyak L ; et al. (2013)
Genetic Basis of Ammonium Toxicity Resistance in a Sake Strain of Yeast: A Mendelian Case.
GP00001139
NTRK1
P04629
Physiology
Candidate a.a substitutions in K12 : C1143S; H551P; E1190G; Q1227K
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
TRK1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
TRPV4
Ear size (drop)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
Gandolfi B; Alamri S; Darby WG ; et al. (2016)
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.
1 Additional References
GP00002279
TRPV4
Q9HBA0
Morphology
c.1024G>T p.V342F
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TRPV4
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tryptophan phenylalanine hydroxylase
Enzymatic activity
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Ruiz-Vázquez P; Silva FJ (1999)
Aberrant splicing of the Drosophila melanogaster phenylalanine hydroxylase pre-mRNA caused by the in[...]
GP00002003
Hn
P17276
Physiology
insertion of the transposable element B104/roo in the exon 3 of the Phenylalanine hydroxylase gene. Its presence alters the Phenylalanine hydroxylase splicing pattern; producing at least two aberrant mRNAs which contain part of the B104 sequence interrupting the coding region. This aberrant splicing is provoked by the use of a cryptic donor site encoded by the B104 3' long terminal repeat in combination with either the gene intron 3 acceptor site or a novel acceptor site generated by the target duplication caused by transposition. One of them; referred as mRNA type 1; encodes a truncated protein that could be predictably non-functional. In mRNA type 2; in spite of a 42 nt insertion; the Phenylalanine hydroxylase reading frame is not altered and it would encode for a protein with 14 extra amino acids which would be able to account for the low enzyme activity detected in this mutant.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tryptophan phenylalanine hydroxylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
TT8
Coloration (seed)
Coding,
Insertion
N
Brassica rapa
field mustard - (species) D
Domesticated
Linkage Mapping
Li X; Chen L; Hong M ; et al. (2012)
A large insertion in bHLH transcription factor BrTT8 resulting in yellow seed coat in Brassica rapa.
GP00002077
TT8
Q9FT81
Morphology
insertion of a Helitron transposon of 4320 bp in intron 2 starting with 5' TC and ending with 3'CTAG containing a 17 bp palindromic region forming a hairpin - prevents transcription N
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species) D
TT8
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
SNP
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Elleder D; Melder DC; Trejbalova K ; et al. (2004)
Two different molecular defects in the Tva receptor gene explain the resistance of two tvar lines of[...]
GP00002256
tva
Q6JBY7
Physiology
c.120C>G p.C40W
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Insertion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Elleder D; Melder DC; Trejbalova K ; et al. (2004)
Two different molecular defects in the Tva receptor gene explain the resistance of two tvar lines of[...]
GP00002257
tva
Q6JBY7
Physiology
c.48insCTCG N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Chen W; Liu Y; Li H ; et al. (2015)
Intronic deletions of tva receptor gene decrease the susceptibility to infection by avian sarcoma an[...]
GP00002258
tva
Q6JBY7
Physiology
c.502_511delCGCTCACCCC N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Chen W; Liu Y; Li H ; et al. (2015)
Intronic deletions of tva receptor gene decrease the susceptibility to infection by avian sarcoma an[...]
GP00002259
tva
Q6JBY7
Physiology
c.502_516delCGCTCACCCCGCCCC N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Reinišová M; Plachý J; Trejbalová K ; et al. (2012)
Intronic deletions that disrupt mRNA splicing of the tva receptor gene result in decreased susceptib[...]
GP00002260
tva
Q6JBY7
Physiology
c.506-515del10 ; splicing N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Reinišová M; Plachý J; Trejbalová K ; et al. (2012)
Intronic deletions that disrupt mRNA splicing of the tva receptor gene result in decreased susceptib[...]
GP00002261
tva
Q6JBY7
Physiology
c.507-511del5 ; splicing N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Twist1
Horn shape (scurs)
Coding,
Insertion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Capitan A; Grohs C; Weiss B ; et al. (2011)
A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1.
GP00002034
Twist1
P26687
Morphology; Physiology
small duplication (c.148_157dup (p.A56RfsX87)) that causes a frameshift and inactivates the gene. N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Twist1
Bos taurus
cattle - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Lyons LA; Imes DL; Rah HC ; et al. (2005)
Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus).
1 Additional References
GP00001142
Tyr
P11344
Morphology
c.679G>T p.G227W
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Lyons LA; Imes DL; Rah HC ; et al. (2005)
Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus).
1 Additional References
GP00001143
Tyr
P11344
Morphology
c. 940G>A p.G302R
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
2 Additional References
GP00001144
Tyr
P11344
Morphology
R402Q
Homo sapiens
human - (species)
Homo sapiens
human - (species)
tyrosinase (TYR)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Panthera leo
lion - (species) D
Intraspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001346
Tyr
P11344
Morphology
c.260G>A p.Arg87Gln
Panthera leo
lion - (species)
Panthera leo
lion - (species) D
tyrosinase (TYR)
Panthera leo
lion - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin; coat)
Coding,
SNP
Equus asinus
ass - (species) D
Intraspecific
Candidate Gene
Utzeri VJ; Bertolini F; Ribani A ; et al. (2016)
The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation [...]
GP00001347
Tyr
P11344
Morphology
c.604C>G p.His202Asp
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
tyrosinase (TYR)
Equus asinus
ass - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin; eye; freckles)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Wilde S; Timpson A; Kirsanow K ; et al. (2014)
Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the l[...]
GP00001348
Tyr
P11344
Morphology
c. C>A p.Ser192Tyr
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
tyrosinase (TYR)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Tobita-Teramoto T; Jang GY; Kino K ; et al. (2000)
Autosomal albino chicken mutation (ca/ca) deletes hexanucleotide (-deltaGACTGG817) at a copper-bindi[...]
GP00002308
Tyr
P11344
Morphology
c.817_822del6 p.237-238delDW
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
tyrosinase (TYR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (feathers)
Coding,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Chang CM; Coville JL; Coquerelle G ; et al. (2006)
Complete association between a retroviral insertion in the tyrosinase gene and the recessive white m[...]
GP00002309
Tyr
P11344
Morphology
insertion of a complete avian retroviral sequence in intron 4 causes aberrant transcripts lacking exon 5
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
tyrosinase (TYR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Deletion
Mustela putorius furo
domestic ferret - (subspecies) D
Domesticated
Linkage Mapping
Blaszczyk WM; Distler C; Dekomien G ; et al. (2007)
Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo).
GP00002310
Tyr
P11344
Morphology
Deletion of exon 4 as detected by Southern Blot
Mustela putorius furo
domestic ferret - (subspecies)
Mustela putorius furo
domestic ferret - (subspecies) D
tyrosinase (TYR)
Mustela putorius furo
domestic ferret - (subspecies)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Indel
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Yu Y; Grahn RA; Lyons LA (2019)
Mocha tyrosinase variant: a new flavour of cat coat coloration.
GP00002311
Tyr
P11344
Morphology
c.820_936delinsAATCTC p.I274_L312delinsNL
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Imes DL; Geary LA; Grahn RA ; et al. (2006)
Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.
GP00002312
Tyr
P11344
Morphology
a cytosine deletion in TYR at position 975 in exon 2 N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Abitbol M; Bossé P; Grimard B ; et al. (2017)
Allelic heterogeneity of albinism in the domestic cat.
GP00002313
Tyr
P11344
Morphology
c.1204C>T p.R402* N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin)
Coding,
Deletion
Megaptera novaeangliae
humpback whale - (species) D
Intraspecific
Candidate Gene
Polanowski AM; Robinson-Laverick SM; Paton D ; et al. (2012 Jan-Feb)
Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).
GP00002314
Tyr
P11344
Morphology
(264 del C) at codon 88
Megaptera novaeangliae
humpback whale - (species)
Megaptera novaeangliae
humpback whale - (species) D
tyrosinase (TYR)
Megaptera novaeangliae
humpback whale - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Insertion
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Ciobanu DC ; et al. (2004)
A form of albinism in cattle is caused by a tyrosinase frameshift mutation.
GP00002315
Tyr
P11344
Morphology
c.925_926insC N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
tyrosinase (TYR)
Bos taurus
cattle - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Aigner B; Besenfelder U; Müller M ; et al. (2000)
Tyrosinase gene variants in different rabbit strains.
GP00002316
Tyr
P11344
Morphology
c.1118C>A p.T373K (also causes albinism in humans)
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
tyrosinase (TYR)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Cavia porcellus
domestic guinea pig - (species) D
Domesticated
Candidate Gene
Yu F; Jiao S; Lai W ; et al. (2018)
Conserved aspartate-to-glycine mutation in tyrosinase is associated with albino phenotype in domesti[...]
GP00002317
Tyr
P11344
Morphology
c.710A>G p.Asp237Gly
Cavia porcellus
domestic guinea pig - (species)
Cavia porcellus
domestic guinea pig - (species) D
tyrosinase (TYR)
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Bubalus bubalis
water buffalo - (species) D
Domesticated
Candidate Gene
Damé MC; Xavier GM; Oliveira-Filho JP ; et al. (2012)
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.
GP00002318
Tyr
P11344
Morphology
c.1431G>A p.W477*
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
tyrosinase (TYR)
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Anistoroaei R; Fredholm M; Christensen K ; et al. (2008)
Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation.
GP00002319
Tyr
P11344
Morphology
c.138T>A p.C46*
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
tyrosinase (TYR)
Neovison vison
American mink - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Benkel BF; Rouvinen-Watt K; Farid H ; et al. (2009)
Molecular characterization of the Himalayan mink.
GP00002320
Tyr
P11344
Morphology
c.1835C>G p.H420Q
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
tyrosinase (TYR)
Neovison vison
American mink - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin)
Coding,
SNP
Fejervarya kawamurai
(species) D
Intraspecific
Candidate Gene
Miura I; Tagami M; Fujitani T ; et al. (2018)
Spontaneous tyrosinase mutations identified in albinos of three wild frog species.
GP00002321
Tyr
P11344
Morphology
c.169G>A p.Gly57Arg
Fejervarya kawamurai
(species)
Fejervarya kawamurai
(species) D
tyrosinase (TYR)
Fejervarya kawamurai
(species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (albinism)
Coding,
SNP
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002357
Tyr
P11344
Morphology; Physiology
G420R amino acid change which is identical to one identified in Caucasian human patients (G419R) http://www.ifpcs.org/albinism/oca1mut.html N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
tyrosinase (TYR)
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (amelanism)
Coding,
Insertion
N
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Candidate Gene
Koga A; Hori H (1997)
Albinism due to transposable element insertion in fish.
GP00002372
Tyr
P11344
Morphology
"i4 allele was found to contain a 4.7- kb transposable element in the 5th exon"
"Tyr-i4 contains a 4.7-kb insertion in exon 5 (Fig. 3). If the inserted fragment was transcribed, the amino acid sequence would be altered after the 469th residue, with a termination codon (UAG) at amino acid position 471. The i4/i4 genotype exhibits a quasi-albino phenotype. This may be explained by generation of a tyrosinase protein that only lacks its C-terminus region. The wild-type tyrosinase has a highly hydrophobic amino acid block at its C terminus (aa 480 - aa 500) which is thought to be part of a membrane spanning domain (Inagaki et al., 1994). A possible explanation is that the mutant tyrosinase encoded by Tyr- i4 lacks this region, so that it cannot be positioned properly on the membrane" N
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
tyrosinase (TYR)
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat; albinism)
Coding,
Deletion
N
Nyctereutes procyonoides viverrinus
(subspecies) D
Intraspecific
Candidate Gene
Mae Y; Nagara K; Miyazaki M ; et al. (2020)
Complex intragene deletion leads to oculocutaneous albinism in tanuki (Japanese raccoon dog).
GP00002374
Tyr
P11344
Morphology
"We examined the structure and nucleotide sequence of TYR in an albino tanuki and found that the third exon was removed due to a deletion of approximately 11 kb. In addition, two nonsynonymous nucleotide substitutions were found in the fifth exon. These mutations are possible causes of the albino phenotype; however, the order of occurrence is unclear. Even if the 11-kb deletion was not the first of these mutations, it is considered to cause a total loss of the tyrosinase function because the third exon carries codons for one of the two copper-binding sites of tyrosinase and these sites are essential for the enzyme function. Intriguingly, the deletion was not a simple removal of an 11-kb segment: an internal portion was retained as a segment in the reverse orientation. We propose possible formation processes for this mutation that involve multiple DNA scission events, or an inversion followed by a deletion." N
Nyctereutes procyonoides viverrinus
(subspecies)
Nyctereutes procyonoides viverrinus
(subspecies) D
tyrosinase (TYR)
Nyctereutes procyonoides viverrinus
(subspecies)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Cervus elaphus
red deer - (species) D
Intraspecific
Candidate Gene
Reiner G; Tramberend K; Nietfeld F ; et al. (2020)
A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associat[...]
GP00002375
Tyr
P11344
Morphology
"a non-synonymous mutation with exchange of a glycine residue at position 291 of the tyrosinase protein by arginine was identified as the cause of dilution of the coat colour"
The mutation is on nucleotide 871 (G > A) but the exact codons are not specified in the paper.
Cervus elaphus
red deer - (species)
Cervus elaphus
red deer - (species) D
tyrosinase (TYR)
Cervus elaphus
red deer - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Berryere TG; Schmutz SM; Schimpf RJ ; et al. (2003)
TYRP1 is associated with dun coat colour in Dexter cattle or how now brown cow?
GP00001145
Tyrp1
P07147
Morphology
c.1300C>T p.H434Y
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
tyrosinase-related protein 1 (TYRP1)
Bos taurus
cattle - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Goldfinch AD (2002)
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
GP00001146
Tyrp1
P07147
Morphology
deletion of a proline residue in exon 5 (345delP)
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Goldfinch AD (2002)
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
GP00001147
Tyrp1
P07147
Morphology
premature stop codon in exon 5 (Q331ter) N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001149
Tyrp1
P07147
Morphology
Ala23Pro
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
tyrosinase-related protein 1 (TYRP1)
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
SNP
N
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001150
Tyrp1
P07147
Morphology
Arg72* N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
tyrosinase-related protein 1 (TYRP1)
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
Deletion
N
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001151
Tyrp1
P07147
Morphology
7-bp deletion 411-418del resulting in null allele N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
tyrosinase-related protein 1 (TYRP1)
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Nadeau NJ; Mundy NI; Gourichon D ; et al. (2007)
Association of a single-nucleotide substitution in TYRP1 with roux in Japanese quail (Coturnix japon[...]
GP00001152
Tyrp1
P07147
Morphology
Phe282Ser
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
tyrosinase-related protein 1 (TYRP1)
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
N
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Schmidt-Küntzel A; Eizirik E; O'Brien SJ ; et al. (2005 Jul-Aug)
Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...]
1 Additional References
GP00001153
Tyrp1
P07147
Morphology
premature UAG stop codon at position 100 of TYRP1; AAG>TAG c.298C>T p.R100* N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase-related protein 1 (TYRP1)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Unknown
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Schmidt-Küntzel A; Eizirik E; O'Brien SJ ; et al. (2005 Jul-Aug)
Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...]
GP00001154
Tyrp1
P07147
Morphology
Two mutations associated with the chocolate (b) allele - one leading to a TYRP1-A3G substitution in the signal peptide and another to an in-frame insertion TYRP1-421ins17/18 caused by a donor splice site mutation in intron 6 -exact causing change unknown
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase-related protein 1 (TYRP1)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Kenny EE; Timpson NJ; Sikora M ; et al. (2012)
Melanesian blond hair is caused by an amino acid change in TYRP1.
GP00001155
Tyrp1
P07147
Morphology
R93C
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
tyrosinase-related protein 1 (TYRP1)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Gratten J; Beraldi D; Lowder BV ; et al. (2007)
Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour po[...]
GP00001156
Tyrp1
P07147
Morphology
c. 869G>T p.C290F ; Cys residue involved shows a high degree of evolutionary conservation; it is conserved not only across vertebrates but also in the two paralogues of TYRP1, DCT and TYR
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Wu X; Zhang Y; Shen L ; et al. (2016)
A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color[...]
GP00001327
Tyrp1
P07147
Morphology
g.17599_17604del 6bp deletion in exon 8 resulting in deletion of Met and Gly residues at positions 495 and 496 in TYRP1 protein ; c.1484_1489del6 p.Met495_Gly496del
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Li J; Bed'hom B; Marthey S ; et al. (2019)
A missense mutation in TYRP1 causes the chocolate plumage color in chicken and alters melanosome str[...]
GP00002126
Tyrp1
P07147
Morphology
g.30830367C>A c.640C>A p.His214Asn
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
tyrosinase-related protein 1 (TYRP1)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Goldfinch AD (2002)
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
GP00002233
Tyrp1
P07147
Morphology
c.121T>A p.Cys41Ser
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Hrckova Turnova E; Majchrakova Z; Bielikova M ; et al. (2017)
A novel mutation in the TYRP1 gene associated with brown coat colour in the Australian Shepherd Dog [...]
GP00002234
Tyrp1
P07147
Morphology
c.555T>G p.Tyr185* N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Wright HE; Schofield E; Mellersh CS ; et al. (2019)
A novel TYRP1 variant is associated with liver and tan coat colour in Lancashire Heelers.
GP00002235
Tyrp1
P07147
Morphology
c.1025T>G p.Phe342Cys
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Becker D; Otto M; Ammann P ; et al. (2015)
The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1[...]
GP00002236
Tyrp1
P07147
Morphology
c.1487G>A p.Gly496Asp
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
tyrosinase-related protein 1 (TYRP1)
Capra hircus
goat - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Raadsma HW; Jonas E; Fleet MR ; et al. (2013)
QTL and association analysis for skin and fibre pigmentation in sheep provides evidence of a major c[...]
GP00002237
Tyrp1
P07147
Morphology
c.2240C>G p.A746V
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Paris JM; Letko A; Häfliger IM ; et al. (2019)
Identification of two TYRP1 loss-of-function alleles in Valais Red sheep.
GP00002238
Tyrp1
P07147
Morphology
c.86_87delGA p.(Glu29ValfsTer5) N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Paris JM; Letko A; Häfliger IM ; et al. (2019)
Identification of two TYRP1 loss-of-function alleles in Valais Red sheep.
GP00002239
Tyrp1
P07147
Morphology
c.1066C>T p.(Arg356*) N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Linkage Mapping
Utzeri VJ; Ribani A; Fontanesi L (2014)
A premature stop codon in the TYRP1 gene is associated with brown coat colour in the European rabbit[...]
GP00002240
Tyrp1
P07147
Morphology
c.570G>A p.Trp190ter N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
tyrosinase-related protein 1 (TYRP1)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
Insertion
N
Falco cherrug
Saker falcon - (species) D
Intraspecific
Candidate Gene
Cortimiglia C; Castiglioni B; Pizzi F ; et al. (2017)
Involvement of tyrosinase-related protein 1 gene in the light brown plumage phenotype of Falco cherr[...]
GP00002285
Tyrp1
P07147
Morphology
c.79_80insT in exon 1 resulting in a frameshift change and a premature stop codon at position 81 of the deduced protein sequence ; which in the wild-type form contains 536 amino acids N
Falco cherrug
Saker falcon - (species)
Falco cherrug
Saker falcon - (species) D
tyrosinase-related protein 1 (TYRP1)
Falco cherrug
Saker falcon - (species)
Published - Accepted by Curator
tyrosyl-tRNA synthetase (mt-TyrRS)
Hybrid incompatibility (F1 hybrid viability; F1 hybrid sterility)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Meiklejohn CD; Holmbeck MA; Siddiq MA ; et al. (2013)
An Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises [...]
1 Additional References
GP00001972
TyrRS-m
Q9W107
Physiology
C to T mutation at the base of the anticodon stem, so that G:C becomes G:U in the folded mRNA (see Fig. 1 of Hoekstra et al 2013)
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tyrosyl-tRNA synthetase (mt-TyrRS)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
TZP
Plant growth (hypocotyl growth - light and temperature dependant)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Loudet O; Michael TP; Burger BT ; et al. (2008)
A zinc knuckle protein that negatively controls morning-specific growth in Arabidopsis thaliana.
GP00001269
TZP
Q9FIX7
Morphology
8bp insertion causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
TZP
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Ubiquitin-specific peptidase 46 (Usp46)
Escape behavior (immobility in inescapable situations)
Coding,
Deletion
Mus musculus
house mouse - (species) D
Intraspecific
Linkage Mapping
Tomida S; Mamiya T; Sakamaki H ; et al. (2009)
Usp46 is a quantitative trait gene regulating mouse immobile behavior in the tail suspension and for[...]
GP00001159
Usp46
P62069
Behavior
1a.a. deletion
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
Ubiquitin-specific peptidase 46 (Usp46)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Ugt86Dd
Xenobiotic resistance (nicotine ; larval stage)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Marriage TN; King EG; Long AD ; et al. (2014)
Fine-mapping nicotine resistance loci in Drosophila using a multiparent advanced generation inter-cr[...]
1 Additional References
GP00001406
Ugt86Dd
Q9VGT8
Physiology
22-bp frameshift deletion in Ugt86Dd - CRISPR-induced deletions in Ugt86Dd lead to a large reduction in resistance N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Ugt86Dd
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Uncoupling protein 1 (UCP1)
Thermoregulation (brown adipose tissue)
Coding,
Deletion
N
Sus
(genus) D
Intergeneric or Higher
Candidate Gene
Berg F; Gustafson U; Andersson L (2006)
The uncoupling protein 1 gene (UCP1) is disrupted in the pig lineage: a genetic explanation for poor[...]
GP00001162
Ucp1
P12242
Physiology
deletion of exons 3 to 5 N
Mammalia
mammals - (class)
Sus
(genus) D
Uncoupling protein 1 (UCP1)
Sus
(genus)
Published - Accepted by Curator
Vacuolar transporter chaperone 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001290
VTC1
P40046
Physiology
G>T (Asp > Tyr) @ position 289
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 1
Metal tolerance (copper)
Coding,
Indel
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001291
VTC1
P40046
Physiology
Pro > His+frameshift @ position 13 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 1
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001292
VTC1
P40046
Physiology
C>A (Ser > Stop) @ position 104 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001293
VTC4
P47075
Physiology
C>T (Trp > Stop) @ position 800 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001294
VTC4
P47075
Physiology
C>A (Glu > Stop) @ position 226 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
Indel
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001295
VTC4
P47075
Physiology
Phe > Ser+frameshift @ position 380 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001296
VTC4
P47075
Physiology
A>G (Tyr > His) @ position 1075
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001297
VTC4
P47075
Physiology
C>T (Trp > Stop) @ position 1320 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001298
VTC4
P47075
Physiology
T>A (Arg > Stop) @ position 757 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001299
VTC4
P47075
Physiology
C>A (Glu > Stop) @ position 1153 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (anti-coagulant drug response; warfarin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Linkage Mapping
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
2 Additional References
GP00001168
VKORC1
Q9BQB6
Physiology
R98W
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Vkorc1
Homo sapiens
human - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (anti-coagulant drug response; warfarin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
2 Additional References
GP00001169
VKORC1
Q9BQB6
Physiology
V29L
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Vkorc1
Homo sapiens
human - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (anti-coagulant drug response; warfarin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
2 Additional References
GP00001170
VKORC1
Q9BQB6
Physiology
V45A
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Vkorc1
Homo sapiens
human - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (anti-coagulant drug response; warfarin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
2 Additional References
GP00001171
VKORC1
Q9BQB6
Physiology
R58G
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Vkorc1
Homo sapiens
human - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001172
VKORC1
Q9BQB6
Physiology
L128S
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
Vkorc1
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001173
VKORC1
Q9BQB6
Physiology
Y139C
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
Vkorc1
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Mus spretus
western wild mouse - (species)
Intraspecific
Candidate Gene
Song Y; Endepols S; Klemann N ; et al. (2011)
Adaptive introgression of anticoagulant rodent poison resistance by hybridization between old world [...]
GP00001174
VKORC1
Q9BQB6
Physiology
Several candidate coding changes
Mus musculus
house mouse - (species)
Mus spretus
western wild mouse - (species)
Vkorc1
Mus spretus
western wild mouse - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Linkage Mapping
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
GP00001175
VKORC1
Q9BQB6
Physiology
Y139C
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001176
VKORC1
Q9BQB6
Physiology
S56P
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001177
VKORC1
Q9BQB6
Physiology
L128S
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001178
VKORC1
Q9BQB6
Physiology
L128Q
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001179
VKORC1
Q9BQB6
Physiology
L120Q
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001180
VKORC1
Q9BQB6
Physiology
Y139S
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Lasseur R; Longin-Sauvageon C; Videmann B ; et al. (2005)
Warfarin resistance in a French strain of rats.
1 Additional References
GP00001181
VKORC1
Q9BQB6
Physiology
Y139F
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Tanaka KD; Kawai YK; Ikenaka Y ; et al. (2013)
A novel mutation in VKORC1 and its effect on enzymatic activity in Japanese warfarin-resistant rats.
GP00001182
VKORC1
Q9BQB6
Physiology
R33P
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
VPS13A
Latitudinal adaptation
Coding,
SNP
Sus scrofa
pig - (species) D
Domesticated
Association Mapping
Ai H; Fang X; Yang B ; et al. (2015)
Adaptation and possible ancient interspecies introgression in pigs identified by whole-genome sequen[...]
GP00001571
VPS13A
F1SIL5
Physiology
two nonsynonymous substitutions V>G and F>Y - whether both or only one affects the phenotype is unknown
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
VPS13A
Sus scrofa
pig - (species)
Published - Accepted by Curator
VRN2
Flowering time
Coding,
SNP
Triticum monococcum
(species)
Domesticated
Linkage Mapping
Yan L; Loukoianov A; Blechl A ; et al. (2004)
The wheat VRN2 gene is a flowering repressor down-regulated by vernalization.
GP00001187
VRN2
Q8W5B1
Physiology
R35W; R is conserved in all of the ZCCT proteins and in all of the CO-like proteins from Arabidopsis; rice; and barley
Triticum monococcum
(species)
Triticum monococcum
(species)
VRN2
Triticum monococcum
(species)
Published - Accepted by Curator
VRS1 = SIX-ROWED SPIKE 1
Plant architecture
Inflorescence architecture
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Komatsuda T; Pourkheirandish M; He C ; et al. (2007)
Six-rowed barley originated from a mutation in a homeodomain-leucine zipper I-class homeobox gene.
1 Additional References
GP00001189
Vrs1
A1IHK8
Morphology
Morphology
1bp deletion resulting in frameshift N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
VRS1 = SIX-ROWED SPIKE 1
Hordeum vulgare
(species)
Published - Accepted by Curator
VRS1 = SIX-ROWED SPIKE 1
Plant architecture
Inflorescence architecture
Coding,
Insertion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Komatsuda T; Pourkheirandish M; He C ; et al. (2007)
Six-rowed barley originated from a mutation in a homeodomain-leucine zipper I-class homeobox gene.
1 Additional References
GP00001190
Vrs1
A1IHK8
Morphology
Morphology
1bp insertion resulting in frameshift N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
VRS1 = SIX-ROWED SPIKE 1
Hordeum vulgare
(species)
Published - Accepted by Curator
VRS1 = SIX-ROWED SPIKE 1
Plant architecture
Inflorescence architecture
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Komatsuda T; Pourkheirandish M; He C ; et al. (2007)
Six-rowed barley originated from a mutation in a homeodomain-leucine zipper I-class homeobox gene.
1 Additional References
GP00001191
Vrs1
A1IHK8
Morphology
Morphology
Phe75Leu
Hordeum vulgare
(species)
Hordeum vulgare
(species)
VRS1 = SIX-ROWED SPIKE 1
Hordeum vulgare
(species)
Published - Accepted by Curator
VvMYBA2
Coloration (fruit)
2 Mutations:
Coding
N
Vitis vinifera
wine grape - (species) D
Domesticated
Linkage Mapping
Fournier-Level A; Le Cunff L; Gomez C ; et al. (2009)
Quantitative genetic bases of anthocyanin variation in grape (Vitis vinifera L. ssp. sativa) berry: [...]
GP00001195
VvmybA2
Q6L9M8
Morphology
2 mutations
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA2
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Coding,
Insertion
N
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001201
waxy
Q8L699
Physiology
Transposon insertion TS1-7 (Exon 3) N
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Coding,
Insertion
N
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001202
waxy
Q8L699
Physiology
Transposon insertion TS1-9 (Exon 10) N
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content (glutinous rice)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Wang ZY; Zheng FQ; Shen GZ ; et al. (1995)
The amylose content in rice endosperm is related to the post-transcriptional regulation of the waxy [...]
3 Additional References
GP00001204
waxy
Q8L699
Physiology
substitution G->T in the 5' splice site of intron 1
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Waxy /GBSS
Oryza sativa
rice - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content (glutinous rice)
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Hori Y; Fujimoto R; Sato Y ; et al. (2007)
A novel wx mutation caused by insertion of a retrotransposon-like sequence in a glutinous cultivar o[...]
GP00002069
waxy
Q8L699
Physiology
23-bp duplication in the second exon which causes loss of the function of granule-bound starch synthase (GBSS) encoded by the Wx gene N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Waxy /GBSS
Oryza sativa
rice - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content (glutinous rice)
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Hori Y; Fujimoto R; Sato Y ; et al. (2007)
A novel wx mutation caused by insertion of a retrotransposon-like sequence in a glutinous cultivar o[...]
GP00002070
waxy
Q8L699
Physiology
insertion of 7764 bp in the ninth exon of the wx gene. Transcripts of the 'Oragamochi' wx allele are about 1-kb shorter and the deduced amino acid sequence of the transcript lacks a motif important for GBSS. The 7,764-bp insertion is a retrotransposon-like sequence with long terminal repeats; a primer binding site and a polypurine tract N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Waxy /GBSS
Oryza sativa
rice - (species)
Published - Accepted by Curator
WDR1
Coloration (flowers; seeds; stems)
Coding,
Deletion
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Morita Y; Saitoh M; Hoshino A ; et al. (2006)
Isolation of cDNAs for R2R3-MYB, bHLH and WDR transcriptional regulators and identification of c and[...]
GP00002090
InWDR1
Q1JUZ7
Morphology
frameshift mutation caused by a 7 bp insertion in the gene encoding a WDR transcriptional regulator N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
WDR1
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
WDR1
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Domesticated
Candidate Gene
de Vetten N; Quattrocchio F; Mol J ; et al. (1997)
The an11 locus controlling flower pigmentation in petunia encodes a novel WD-repeat protein conserve[...]
GP00002093
InWDR1
Q1JUZ7
Morphology
insertion of a 300-bp dTph1 transposon in the WDR gene in the first WD-repeat (321-bp downstream of the transcription start site) N
Petunia axillaris
(species)
Petunia axillaris
(species) D
WDR1
Petunia axillaris
(species)
Published - Accepted by Curator
WIF1
Ear size
Coding,
SNP
Sus scrofa
pig - (species) D
Domesticated
Candidate Gene
Liang J; Zhang Y; Wang L ; et al. (2019)
Molecular cloning of WIF1 and HMGA2 reveals ear-preferential expression while uncovering a missense [...]
GP00002255
WIF1
Q9Y5W5
Morphology
p.Phe236Leu
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
WIF1
Sus scrofa
pig - (species)
Published - Accepted by Curator
WRR4
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Borhan MH; Gunn N; Cooper A ; et al. (2008)
WRR4 encodes a TIR-NB-LRR protein that confers broad-spectrum white rust resistance in Arabidopsis t[...]
GP00001215
ADR2
Q9C7X0
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
WRR4
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Xa21
Pathogen resistance
Coding,
Unknown
Oryza sativa
rice - (species)
Intraspecific
Linkage Mapping
Song WY; Wang GL; Chen LL ; et al. (1995)
A receptor kinase-like protein encoded by the rice disease resistance gene, Xa21.
GP00001217
Xa21
A0PIA3
Physiology
unknown
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Xa21
Oryza sativa
rice - (species)
Published - Accepted by Curator
Xa26
Pathogen resistance
Coding,
Unknown
Oryza sativa
rice - (species)
Intraspecific
Linkage Mapping
Sun X; Cao Y; Yang Z ; et al. (2004)
Xa26, a gene conferring resistance to Xanthomonas oryzae pv. oryzae in rice, encodes an LRR receptor[...]
GP00001218
Xa26
Q00KZ8
Physiology
unknown
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Xa26
Oryza sativa
rice - (species)
Published - Accepted by Curator
Y
Coloration (fruit)
Coding,
Insertion
Sorghum bicolor
sorghum - (species) D
Domesticated
Candidate Gene
Chopra S; Brendel V; Zhang J ; et al. (1999)
Molecular characterization of a mutable pigmentation phenotype and isolation of the first active tra[...]
GP00002068
P1
O24579
Morphology
insertion of a transposable element named Candystripe1 (Cs1) in the second intron of the Y gene - Cs1 is 23,018 bp in size and is bordered by 20-bp terminal inverted repeat sequences. It generated a 3-bp target site duplication upon insertion within the Y gene. Cs1 shares features of the CACTA superfamily of transposons.
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species) D
Y
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
yellow
Coloration (body; wing)
Coding,
Insertion
N
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Heinze SD; Kohlbrenner T; Ippolito D ; et al. (2017)
CRISPR-Cas9 targeted disruption of the yellow ortholog in the housefly identifies the brown body loc[...]
GP00002623
y
P09957
Morphology
a 4 bp insertion at amino acid position 67 that causes a frameshift and a premature stop codon N
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
yellow
Musca domestica
house fly - (species)
Published - Accepted by Curator
zfl2
Flowering time
Coding,
Deletion
Zea mays
(species) D
Domesticated
Linkage Mapping
Buckler ES; Holland JB; Bradbury PJ ; et al. (2009)
The genetic architecture of maize flowering time.
GP00001226
zfl2
Q5Q1L6
Physiology
16a.a. deletion
Zea mays
(species)
Zea mays
(species) D
zfl2
Zea mays
(species)
Published - Accepted by Curator
β-adrenergic octopamine receptor gene (AOR)
Xenobiotic resistance (amitraz)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Association Mapping
Corley SW; Jonsson NN; Piper EK ; et al. (2013)
Mutation in the RmβAOR gene is associated with amitraz resistance in the cattle tick Rhipicephalus m[...]
1 Additional References
GP00002396
Oct-TyrR
P22270
Physiology
L64I
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
β-adrenergic octopamine receptor gene (AOR)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator