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
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
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
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
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[...]
GP00000030
Ace
P07140
Physiology
331W
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-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)
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[...]
GP00000036
Ace
P07140
Physiology
3 mutations
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace)
Aphis gossypii
cotton 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 [...]
GP00000040
Ace
P07140
Physiology
Gly365Ala
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 [...]
GP00000041
Ace
P07140
Physiology
Gly262Val
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 [...]
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 [...]
GP00000043
Ace
P07140
Physiology
Gly262Ala
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
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[...]
GP00002013
Ace
P07140
Physiology
several non-synonymous SNP - exact causing amino acid change(s) unknown
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace)
Tetranychus urticae
two-spotted spider mite - (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
Acetylcholinesterase (Ace)
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)
Myzus persicae
green peach aphid - (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
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
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
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 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
BTR1- Cadherin-like protein
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
BTR1- Cadherin-like protein
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
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
BTR1- Cadherin-like protein
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
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
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
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
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
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
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
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
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
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,
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
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
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
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
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
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
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
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 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
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
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 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.
1 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
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