ABCB4
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Bariami V; Jones CM; Poupardin R ; et al. (2012)
Gene amplification, ABC transporters and cytochrome P450s: unraveling the molecular basis of pyrethr[...]
GP00002607
Abcb4
P21440
Physiology
ABCB4 gene amplified about 6–7 times
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
ABCB4
Aedes aegypti
yellow fever mosquito - (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
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
Abdominal-B
Coloration (male-specific)
Unknown,
Unknown
Drosophila malerkotliana
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001548
Abd-B
P09087
Morphology
unknown
Drosophila malerkotliana
(species)
Drosophila malerkotliana
(species)
Abdominal-B
Drosophila malerkotliana
(species)
Published - Accepted by Curator
Abdominal-B
Coloration (male-specific)
Unknown,
Unknown
Drosophila merina
(species)
Interspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001549
Abd-B
P09087
Morphology
unknown
Drosophila ercepeae
(species)
Drosophila merina
(species)
Abdominal-B
Drosophila merina
(species)
Published - Accepted by Curator
Abdominal-B
Coloration (abdomen; male)
Cis-regulatory,
Unknown
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Liu Y; Ramos-Womack M; Han C ; et al. (2019)
Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.
GP00002021
Abd-B
P09087
Morphology
change in the iab5 cis-regulatory element (15kb long)- exact causing mutation(s) unknown - decreased AbdB abdominal expression
Drosophila yakuba
(species)
Drosophila santomea
(species) D
Abdominal-B
Drosophila santomea
(species)
Published - Accepted by Curator
Abdominal-B
Coloration (abdomen; setae)
Cis-regulatory,
Unknown
Bombus melanopygus
(species)
Intraspecific
Association Mapping
Tian L; Rahman SR; Ezray BD ; et al. (2019)
A homeotic shift late in development drives mimetic color variation in a bumble bee.
GP00002048
Abd-B
P09087
Morphology
4kb region - probably several mutations according to recombinants with intermediate phenotypes
Bombus melanopygus
(species)
Bombus melanopygus
(species)
Abdominal-B
Bombus melanopygus
(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,
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,
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
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; cyclic ketoenol)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Lueke B; Douris V; Hopkinson JE ; et al. (2020)
Identification and functional characterization of a novel acetyl-CoA carboxylase mutation associated[...]
1 Additional References
GP00002513
ACC
Q7JV23
Physiology
A2083V
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
acetyl-CoA carboxylase (ACC)
Bemisia tabaci
(species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spiromesifen)
Coding,
SNP
Trialeurodes vaporariorum
greenhouse whitefly - (species) D
Intraspecific
Candidate Gene
Karatolos N; Williamson MS; Denholm I ; et al. (2012)
Resistance to spiromesifen in Trialeurodes vaporariorum is associated with a single amino acid repla[...]
1 Additional References
GP00002556
ACC
Q7JV23
Physiology
E645K
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Trialeurodes vaporariorum
greenhouse whitefly - (species) D
acetyl-CoA carboxylase (ACC)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Singh KS; Cordeiro EMG; Troczka BJ ; et al. (2021)
Global patterns in genomic diversity underpinning the evolution of insecticide resistance in the aph[...]
GP00002616
ACC
Q7JV23
Physiology
a single non-synonymous mutation (gCt > gTt) resulting in an alanine to valine substitution in a highly conserved region of the ACC carboxyltransferase (CT) domain
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
acetyl-CoA carboxylase (ACC)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Caenorhabditis elegans
(species) D
Experimental Evolution
Linkage Mapping
Guest M; Kriek N; Flemming AJ (2020)
Studies of an insecticidal inhibitor of acetyl-CoA carboxylase in the nematode C. elegans.
GP00002617
ACC
Q7JV23
Physiology
A1559V
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
acetyl-CoA carboxylase (ACC)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Caenorhabditis elegans
(species) D
Experimental Evolution
Linkage Mapping
Guest M; Kriek N; Flemming AJ (2020)
Studies of an insecticidal inhibitor of acetyl-CoA carboxylase in the nematode C. elegans.
GP00002618
ACC
Q7JV23
Physiology
A1847V
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
acetyl-CoA carboxylase (ACC)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Weill M; Malcolm C; Chandre F ; et al. (2004)
The unique mutation in ace-1 giving high insecticide resistance is easily detectable in mosquito vec[...]
GP00000026
Ace
P07140
Physiology
G119S
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
Acetylcholinesterase (Ace-1)
Anopheles albimanus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000027
Ace
P07140
Physiology
G119S
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000028
Ace
P07140
Physiology
Gly119Ser (119 is the corresponding position in Torpedo) - GGC to AGC
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000029
Ace
P07140
Physiology
Gly119Ser (119 is the corresponding position in Torpedo) - GGC to AGC
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
1 Additional References
GP00000030
Ace
P07140
Physiology
F331W
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
Acetylcholinesterase (Ace-1)
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex vishnui
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
GP00000031
Ace
P07140
Physiology
G119S
Culex vishnui
(species)
Culex vishnui
(species) D
Acetylcholinesterase (Ace-1)
Culex vishnui
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
3 Mutations:
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Shang Q; Pan Y; Fang K ; et al. (2014)
Extensive Ace2 duplication and multiple mutations on Ace1 and Ace2 are related with high level of or[...]
4 Additional References
GP00000036
Ace
P07140
Physiology
3 mutations
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace-1)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
1 Additional References
GP00001372
Ace
P07140
Physiology
Strict tandem duplication of 203kb encompassing 12 genes ; ace1 heterogeneous gene duplication (susceptible G119 and resistant S119 copies)
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)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species)
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
GP00001373
Ace
P07140
Physiology
Strict tandem 3 times duplication of 203kb encompassing 12 genes with partial internal deletion of 97kb in the third copy - ace1 homogeneous gene duplications (all 3 copies S119 resistant)
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species)
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
GP00001374
Ace
P07140
Physiology
Strict tandem 5 times duplication of 203kb encompassing 12 genes - ace1 homogeneous gene duplications (all 5 copies S119 resistant)
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
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
2 Additional References
GP00002013
Ace
P07140
Physiology
A201S
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Nabeshima T; Kozaki T; Tomita T ; et al. (2003)
An amino acid substitution on the second acetylcholinesterase in the pirimicarb-resistant strains of[...]
GP00002015
Ace
P07140
Physiology
Ser431Phe (position 331 in mature Torpedo protein)
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
Acetylcholinesterase (Ace-1)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Chilo suppressalis
striped riceborer - (species) D
Intraspecific
Candidate Gene
Jiang X; Qu M; Denholm I ; et al. (2009)
Mutation in acetylcholinesterase1 associated with triazophos resistance in rice stem borer, Chilo su[...]
GP00002453
Ace
P07140
Physiology
an amino acid mutation A314S in Ch-ace1 (corresponding to A201S in Torpedo californica AChE) was consistently associated with the occurrence of resistance
Chilo suppressalis
striped riceborer - (species)
Chilo suppressalis
striped riceborer - (species) D
Acetylcholinesterase (Ace-1)
Chilo suppressalis
striped riceborer - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Lee DW; Choi JY; Kim WT ; et al. (2007)
Mutations of acetylcholinesterase1 contribute to prothiofos-resistance in Plutella xylostella (L.).
3 Additional References
GP00002454
Ace
P07140
Physiology
2 mutations
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
Acetylcholinesterase (Ace-1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Mavridis K; Papapostolou KM; Ilias A ; et al. (2022)
Next-generation molecular diagnostics (TaqMan qPCR and ddPCR) for monitoring insecticide resistance [...]
GP00002512
Ace
P07140
Physiology
F331W
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
Acetylcholinesterase (Ace-1)
Bemisia tabaci
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002571
Ace
P07140
Physiology
S119G
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
2 Additional References
GP00002572
Ace
P07140
Physiology
G328A
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Khajehali J; Van Leeuwen T; Grispou M ; et al. (2010)
Acetylcholinesterase point mutations in European strains of Tetranychus urticae (Acari: Tetranychida[...]
1 Additional References
GP00002573
Ace
P07140
Physiology
F331W
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002574
Ace
P07140
Physiology
D128E
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Li F; Han Z (2004)
Mutations in acetylcholinesterase associated with insecticide resistance in the cotton aphid, Aphis [...]
3 Additional References
GP00002577
Ace
P07140
Physiology
A201S
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace-1)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cydia pomonella
codling moth - (species) D
Intraspecific
Candidate Gene
Cassanelli S; Reyes M; Rault M ; et al. (2006)
Acetylcholinesterase mutation in an insecticide-resistant population of the codling moth Cydia pomon[...]
1 Additional References
GP00002580
Ace
P07140
Physiology
F399V = F290V
Cydia pomonella
codling moth - (species)
Cydia pomonella
codling moth - (species) D
Acetylcholinesterase (Ace-1)
Cydia pomonella
codling moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Hadjivassilis A ; et al. (2007)
A new amino-acid substitution in acetylcholinesterase 1 confers insecticide resistance to Culex pipi[...]
1 Additional References
GP00002581
Ace
P07140
Physiology
F290V
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002587
Ace
P07140
Physiology
S329(228)P
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-1)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Kwon Deok Ho; Cha Deok Jea; Kim Young Ho ; et al. (2012
)
Cloning of the acetylcholinesterase 1 gene and identification of point mutations putatively associat[...]
1 Additional References
GP00002589
Ace
P07140
Physiology
F330S
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Kwon Deok Ho; Cha Deok Jea; Kim Young Ho ; et al. (2012
)
Cloning of the acetylcholinesterase 1 gene and identification of point mutations putatively associat[...]
1 Additional References
GP00002590
Ace
P07140
Physiology
F331H
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus kanzawai
(species) D
Intraspecific
Candidate Gene
Aiki Yasuhiko; Kozaki Toshinori; Mizuno Hiroshi ; et al. (2005
)
Amino acid substitution in Ace paralogous acetylcholinesterase accompanied by organophosphate resist[...]
1 Additional References
GP00002591
Ace
P07140
Physiology
F331W
Tetranychus kanzawai
(species)
Tetranychus kanzawai
(species) D
Acetylcholinesterase (Ace-1)
Tetranychus kanzawai
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002592
Ace
P07140
Physiology
F331C
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus evansi
red spider mite - (species) D
Intraspecific
Candidate Gene
Carvalho Renato; Yang Yihua; Field Linda M ; et al. (2012
)
Chlorpyrifos resistance is associated with mutation and amplification of the acetylcholinesterase-1 [...]
1 Additional References
GP00002593
Ace
P07140
Physiology
F331W/Y
Tetranychus evansi
red spider mite - (species)
Tetranychus evansi
red spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus evansi
red spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Laodelphax striatellus
small brown planthopper - (species) D
Intraspecific
Candidate Gene
Zhang Yueliang; Li Shuo; Xu Lu ; et al. (2013
)
Overexpression of carboxylesterase-1 and mutation (F439H) of acetylcholinesterase-1 are associated w[...]
1 Additional References
GP00002594
Ace
P07140
Physiology
F331H
Laodelphax striatellus
small brown planthopper - (species)
Laodelphax striatellus
small brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Laodelphax striatellus
small brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitobion avenae
English grain aphid - (species) D
Intraspecific
Candidate Gene
Chen Maohua; Han Zhaojun; Qiao Xianfeng ; et al. (2007
)
Resistance mechanisms and associated mutations in acetylcholinesterase genes in Sitobion avenae (Fab[...]
1 Additional References
GP00002595
Ace
P07140
Physiology
L336S
Sitobion avenae
English grain aphid - (species)
Sitobion avenae
English grain aphid - (species) D
Acetylcholinesterase (Ace-1)
Sitobion avenae
English grain aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Zhang LJ; Jing YP; Li XH ; et al. (2015)
Temperature-sensitive fitness cost of insecticide resistance in Chinese populations of the diamondba[...]
1 Additional References
GP00002598
Ace
P07140
Physiology
A441G
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
Acetylcholinesterase (Ace-1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000040
Ace
P07140
Physiology
Gly365Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000041
Ace
P07140
Physiology
Gly262Val
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000043
Ace
P07140
Physiology
Gly262Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
4 Mutations:
Coding
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
2 Additional References
GP00002011
Ace
P07140
Physiology
4 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
GP00002012
Ace
P07140
Physiology
Ile199Thr (position 129 in the corresponding mature Torpedo AChE). Tested in vitro in Xenopus oocytes
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002016
Ace
P07140
Physiology
Gly368Ala (position 328 in the corresponding mature Torpedo AChE). Tested in vitro in Xenopus oocytes - GGC>GCC
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Anthony NM; Brown JK; Markham PG ; et al. (1995
)
Molecular analysis of cyclodiene resistance-associated mutations among populations of the sweetpotat[...]
1 Additional References
GP00002565
Ace
P07140
Physiology
Phe392Trp mutation located in the acyl pocket of the active site gorge and recently shown to confer OP insensitivity in Culex tritaeniorhynchus
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
Acetylcholinesterase (Ace-2)
Bemisia tabaci
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002568
Ace
P07140
Physiology
E73G
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Li Fei; Han Zhaojun (2004
)
Mutations in acetylcholinesterase associated with insecticide resistance in the cotton aphid, Aphis [...]
1 Additional References
GP00002569
Ace
P07140
Physiology
F78L
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
Acetylcholinesterase (Ace-2)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002570
Ace
P07140
Physiology
E81K
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Kozaki T; Shono T; Tomita T ; et al. (2001)
Fenitroxon insensitive acetylcholinesterases of the housefly, Musca domestica associated with point [...]
1 Additional References
GP00002575
Ace
P07140
Physiology
I129V
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Hejazi MJ; Hawkes NJ ; et al. (2002)
Resistance-associated point mutations of organophosphate insensitive acetylcholinesterase, in the ol[...]
1 Additional References
GP00002576
Ace
P07140
Physiology
I129V
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Temeyer KB; Li AY; Lohmeyer KH ; et al. (2008)
Acetylcholinesterase mutation in diazinon-resistant Haematobia irritans (L.) (Diptera: Muscidae).
1 Additional References
GP00002578
Ace
P07140
Physiology
G227A
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
Acetylcholinesterase (Ace-2)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
1 Additional References
GP00002579
Ace
P07140
Physiology
S238G
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace-2)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
1 Additional References
GP00002582
Ace
P07140
Physiology
F290Y
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cochliomyia hominivorax
primary screw-worm - (species) D
Intraspecific
Candidate Gene
da Silva NM; de Carvalho RA; de Azeredo-Espin AM (2011)
Acetylcholinesterase cDNA sequencing and identification of mutations associated with organophosphate[...]
GP00002583
Ace
P07140
Physiology
F466Y
Cochliomyia hominivorax
primary screw-worm - (species)
Cochliomyia hominivorax
primary screw-worm - (species) D
Acetylcholinesterase (Ace-2)
Cochliomyia hominivorax
primary screw-worm - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002585
Ace
P07140
Physiology
F368(290)L
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-2)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002586
Ace
P07140
Physiology
V435(356)A
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-2)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Ceratitis capitata
Mediterranean fruit fly - (species) D
Intraspecific
Candidate Gene
Magaña C; Hernández-Crespo P; Brun-Barale A ; et al. (2008)
Mechanisms of resistance to malathion in the medfly Ceratitis capitata.
1 Additional References
GP00002588
Ace
P07140
Physiology
Gly328Ala
Ceratitis capitata
Mediterranean fruit fly - (species)
Ceratitis capitata
Mediterranean fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Ceratitis capitata
Mediterranean fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Nabeshima T; Mori A; Kozaki T ; et al. (2004)
An amino acid substitution attributable to insecticide-insensitivity of acetylcholinesterase in a Ja[...]
1 Additional References
GP00002596
Ace
P07140
Physiology
F331W - F455W whose homologous position in Torped AChE (Phe331) is located in the vicinity of the catalytic His in the acyl pocket of the active site gorge
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
Acetylcholinesterase (Ace-2)
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitobion avenae
English grain aphid - (species) D
Intraspecific
Candidate Gene
Chen Maohua; Han Zhaojun; Qiao Xianfeng ; et al. (2007
)
Resistance mechanisms and associated mutations in acetylcholinesterase genes in Sitobion avenae (Fab[...]
1 Additional References
GP00002597
Ace
P07140
Physiology
W435R
Sitobion avenae
English grain aphid - (species)
Sitobion avenae
English grain aphid - (species) D
Acetylcholinesterase (Ace-2)
Sitobion avenae
English grain aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Hejazi MJ; Hawkes NJ ; et al. (2002)
Resistance-associated point mutations of organophosphate insensitive acetylcholinesterase, in the ol[...]
GP00000037
Ace
P07140
Physiology
2 mutations
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
Deletion
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Kakani EG; Ioannides IM; Margaritopoulos JT ; et al. (2008)
A small deletion in the olive fly acetylcholinesterase gene associated with high levels of organopho[...]
1 Additional References
GP00000038
Ace
P07140
Physiology
9bp deletion of three glutamine residues at positions 642_644
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00000039
Ace
P07140
Physiology
Ser->Gly at position 238 of the Torpedo AChE
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000042
Ace
P07140
Physiology
Val180Leu
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000044
Ace
P07140
Physiology
Phe327Tyr
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera dorsalis
oriental fruit fly - (species) D
Intraspecific
Candidate Gene
Hsu JC; Haymer DS; Wu WJ ; et al. (2006)
Mutations in the acetylcholinesterase gene of Bactrocera dorsalis associated with resistance to orga[...]
GP00000045
Ace
P07140
Physiology
2 mutations
Bactrocera dorsalis
oriental fruit fly - (species)
Bactrocera dorsalis
oriental fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera dorsalis
oriental fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00002014
Ace
P07140
Physiology
Ser>Gly (238 is the corresponding position in Torpedo)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (abdomen; female-limited)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Morgan AH ; et al. (2000)
Both naturally occurring insertions of transposable elements and intermediate frequency polymorphism[...]
GP00000046
sc
P10084
Morphology
transposon insertion in non-coding region
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
achaete-scute complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (abdomen)
Cis-regulatory,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Morgan AH ; et al. (2000)
Both naturally occurring insertions of transposable elements and intermediate frequency polymorphism[...]
GP00000047
sc
P10084
Morphology
indel MC21 in promoter region of scute
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
achaete-scute complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (thorax)
Cis-regulatory,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Gruber JD; Genissel A; Macdonald SJ ; et al. (2007)
How repeatable are associations between polymorphisms in achaete-scute and bristle number variation [...]
GP00000048
sc
P10084
Morphology
indel MC22 in promoter region of scute
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
achaete-scute complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (thorax)
Cis-regulatory,
Unknown
Drosophila quadrilineata
(species)
Interspecific
Candidate Gene
Marcellini S; Simpson P (2006)
Two or four bristles: functional evolution of an enhancer of scute in Drosophilidae.
GP00000049
sc
P10084
Morphology
Not identified
Drosophila melanogaster
fruit fly - (species)
Drosophila quadrilineata
(species)
achaete-scute complex
Drosophila quadrilineata
(species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (genitalia; leg sex comb)
3 Mutations:
Cis-regulatory
SNP
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Nagy O; Nuez I; Savisaar R ; et al. (2018)
Correlated Evolution of Two Copulatory Organs via a Single cis-Regulatory Nucleotide Change.
GP00001680
sc
P10084
Morphology
3 mutations
Drosophila yakuba
(species)
Drosophila santomea
(species) D
achaete-scute complex
Drosophila santomea
(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,
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
Agouti
Coloration (coat; dorso-ventral)
Cis-regulatory,
Unknown
Peromyscus polionotus leucocephalus
(subspecies) D
Peromyscus polionotus niveiventris
(subspecies) D
Peromyscus polionotus peninsularis
(subspecies) D
Peromyscus polionotus allophrys
(subspecies) D
Peromyscus polionotus trissyllepsis
(subspecies) D
Peromyscus polionotus ammobates
(subspecies) D
Peromyscus polionotus albifrons
(subspecies) D
Peromyscus polionotus subgriseus
(subspecies) D
Intraspecific
Linkage Mapping
Manceau M; Domingues VS; Mallarino R ; et al. (2011)
The developmental role of Agouti in color pattern evolution.
1 Additional References
GP00000057
Asip
Q03288
Morphology
"A closer investigation of this region revealed three SNPs significantly associated with pigment variation, spanning 1,756 bp, in strong linkage disequilibrium (mean r2 = 0.85). A single SNP on chromosome 4 (chr4) at position chr4: 9,845,301 showed a markedly stronger association with pPC1 than the other two (Fig. 3B). This SNP is located between two untranslated exons (exons 1D and 1E), is 120 bp upstream of a cluster of Short Interspersed Nuclear Elements (SINE) in reverse orientation relative to the transcription of Agouti, and is 5,641 bp upstream of the first coding exon (exon 2). "
"Next, we employ an association-mapping approach to identify an ∼2-kb previously uncharacterized noncoding region of Agouti associated with color variation. We then show that this 2-kb region can drive dermal expression in Mus embryos, demonstrating its regulatory activity in the skin during the establishment of pigmentation."
Peromyscus polionotus subgriseus
(subspecies)
Peromyscus polionotus polionotus
(subspecies)
Peromyscus polionotus albifrons
(subspecies)
Peromyscus polionotus leucocephalus
(subspecies) D
Peromyscus polionotus niveiventris
(subspecies) D
Peromyscus polionotus peninsularis
(subspecies) D
Peromyscus polionotus allophrys
(subspecies) D
Peromyscus polionotus trissyllepsis
(subspecies) D
Peromyscus polionotus ammobates
(subspecies) D
Peromyscus polionotus albifrons
(subspecies) D
Peromyscus polionotus subgriseus
(subspecies) D
Agouti
Peromyscus polionotus leucocephalus
(subspecies)
Peromyscus polionotus niveiventris
(subspecies)
Peromyscus polionotus peninsularis
(subspecies)
Peromyscus polionotus allophrys
(subspecies)
Peromyscus polionotus trissyllepsis
(subspecies)
Peromyscus polionotus ammobates
(subspecies)
Peromyscus polionotus albifrons
(subspecies)
Peromyscus polionotus subgriseus
(subspecies)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Cis-regulatory,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Drögemüller C; Giese A; Martins-Wess F ; et al. (2006)
The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine[...]
GP00000058
Asip
Q03288
Morphology
unknown
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Agouti
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Agouti
Coloration (coat)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Girardot M; Guibert S; Laforet MP ; et al. (2006)
The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregula[...]
GP00000059
Asip
Q03288
Morphology
LINE element insertion in 5' region of gene; over expression of alternative splice forms
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Agouti
Bos taurus
cattle - (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 (feathers)
Cis-regulatory,
Deletion
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Nadeau NJ; Minvielle F; Ito S ; et al. (2008)
Characterization of Japanese quail yellow as a genomic deletion upstream of the avian homolog of the[...]
1 Additional References
GP00000069
Asip
Q03288
Morphology
141162-bp deletion resulting in novel promoter sharing and expression of a RALY-ASIP fusion transcript
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Agouti
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Agouti
Coloration (feathers)
Gene Amplification,
Insertion
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Robic A; Morisson M; Leroux S ; et al. (2019)
Two new structural mutations in the 5' region of the ASIP gene cause diluted feather color phenotype[...]
GP00001973
Asip
Q03288
Morphology
71-kb tandem duplication that comprises one unchanged copy of ASIP and one copy present in the ITCH-ASIP fusion gene which leads to a transcript coding for a normal ASIP protein
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Agouti
Coturnix japonica
Japanese quail - (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
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
Coloration (coat)
Cis-regulatory,
Insertion
Mus musculus molossinus
Japanese wild mouse - (subspecies) D
Intraspecific
Candidate Gene
Tanave A; Imai Y; Koide T (2019)
Nested retrotransposition in the East Asian mouse genome causes the classical nonagouti mutation.
GP00002386
Asip
Q03288
Morphology
Mus musculus molossinus
Japanese wild mouse - (subspecies)
Mus musculus molossinus
Japanese wild mouse - (subspecies) D
Agouti
Mus musculus molossinus
Japanese wild mouse - (subspecies)
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 (skin; hair)
Cis-regulatory,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Bonilla C; Boxill LA; Donald SA ; et al. (2005)
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with dar[...]
2 Additional References
GP00000070
Asip
Q03288
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Agouti (ASIP)
Homo sapiens
human - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Gene Amplification,
Insertion
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Norris BJ; Whan VA (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]
1 Additional References
GP00001324
Asip
Q03288
Morphology
~190kb gene duplication causing dominant white phenotype. Duplication was facilitated by homologous recombination between two non-LTR SINE sequences flanking the duplicated segment ; possible involvement of gene conversion.
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Norris BJ; Whan VA (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]
GP00001325
Asip
Q03288
Morphology
unidentified promoter silencing
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
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)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dreger DL; Schmutz SM (2011 Sep-Oct)
A SINE insertion causes the black-and-tan and saddle tan phenotypes in domestic dogs.
GP00001336
Asip
Q03288
Morphology
A 239bp SINE insertion in reverse orientation in intron 1
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Agouti (ASIP)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Unknown
Lepus americanus
snowshoe hare - (species) D
Intraspecific
Association Mapping
Jones MR; Mills LS; Alves PC ; et al. (2018)
Adaptive introgression underlies polymorphic seasonal camouflage in snowshoe hares.
GP00002060
Asip
Q03288
Morphology
exact mutation(s) unknown
Lepus americanus
snowshoe hare - (species)
Lepus americanus
snowshoe hare - (species) D
Agouti (ASIP)
Lepus americanus
snowshoe hare - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Unknown
Lepus timidus
Mountain hare - (species) D
Intraspecific
Association Mapping
Giska I; Farelo L; Pimenta J ; et al. (2019)
Introgression drives repeated evolution of winter coat color polymorphism in hares.
GP00002061
Asip
Q03288
Morphology
exact mutation(s) unknown
Lepus timidus
Mountain hare - (species)
Lepus timidus
Mountain hare - (species) D
Agouti (ASIP)
Lepus timidus
Mountain hare - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Insertion
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Morgan HD; Sutherland HG; Martin DI ; et al. (1999)
Epigenetic inheritance at the agouti locus in the mouse.
GP00002107
Asip
Q03288
Morphology
insertion of an intra-cisternal A particle (IAP) retrotransposon upstream of the agouti gene (A). This activates transcription and causes ectopic expression of agouti protein; resulting in yellow fur; obesity; diabetes and increased susceptibility to tumours. The pleiotropic effects of ectopic agouti expression are presumably due to effects of the paracrine signal on other tissues.
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
Agouti (ASIP)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (skin)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Yu S; Wang G; Liao J (2019)
Association of a novel SNP in the ASIP gene with skin color in black-bone chicken.
GP00002130
Asip
Q03288
Morphology
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Agouti (ASIP)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Vicugna pacos
alpaca - (species) D
Domesticated
Candidate Gene
Chandramohan B; Renieri C; La Manna V ; et al. (2013)
The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomela[...]
GP00002336
Asip
Q03288
Morphology
p.R98C likely affecting conformation in a cysteine-rich domain
Vicugna pacos
alpaca - (species)
Vicugna pacos
alpaca - (species) D
Agouti (ASIP)
Vicugna pacos
alpaca - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Insertion
Bubalus bubalis
water buffalo - (species) D
Domesticated
Association Mapping
Liang D; Zhao P; Si J ; et al. (2021)
Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buff[...]
GP00002370
Asip
Q03288
Morphology
"2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3′ truncated and containing only 5′ UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5′ UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe."
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Agouti (ASIP)
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Association Mapping
Guo J; Sun X; Mao A ; et al. (2022)
A 13.42-kb tandem duplication at the ASIP locus is strongly associated with the depigmentation pheno[...]
GP00002380
Asip
Q03288
Morphology
"We confirmed that a genomic region harboring the ASIP gene is a major locus affecting the coat color phenotype of Swiss markings in goats. Although the molecular genetic mechanisms remain unsolved, the 13,420-bp duplication upstream of ASIP is a necessary but not sufficient condition for this phenotype in goats. Moreover, the variations in the copy number of the duplication across different goat breeds do not lead to phenotypic heterogeneity."
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
Agouti (ASIP)
Capra hircus
goat - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Henkel J; Dubacher A; Bangerter E ; et al. (2021)
Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.
GP00002381
Asip
Q03288
Morphology
"The white Capra Sempione carried one copy of the AWt allele, which is commonly found in Saanen and Appenzell goats. AWt involves a triplication of ~155 kb comprising the coding sequence of the ASIP, AHCY and ITCH genes (Fontanesi et al. 2009; Henkel et al. 2019). Closer inspection of the short-read alignments revealed that the sequenced Capra Sempione had acquired additional smaller structural alterations compared to the original AWt allele, which comprised a duplication of 1053 bp inserted into a 10 194 bp deletion of the original AWt CNV allele (Supplementary Figure S1)."
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
Agouti (ASIP)
Capra hircus
goat - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Henkel J; Dubacher A; Bangerter E ; et al. (2021)
Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.
GP00002382
Asip
Q03288
Morphology
"The greyish Grüenochte goat carried one copy of the Apc allele, which causes the characteristic black and white pattern of Swiss Peacock goats (Henkel et al. 2019). The Apc allele consists of a central quadruplication of ~45 kb with triplicated adjacent flanking regions comprising ~28 kb and ~42 kb, respectively."
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
Agouti (ASIP)
Capra hircus
goat - (species)
Published - Accepted by Curator
Agouti-related peptide 2 (agrp2)
Coloration (stripes)
Cis-regulatory,
Unknown
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Interspecific
Linkage Mapping
Kratochwil CF; Liang Y; Gerwin J ; et al. (2018)
Agouti-related peptide 2 facilitates convergent evolution of stripe patterns across cichlid fish rad[...]
1 Additional References
GP00001764
asip2b
J3JQX9
Morphology
Causal mutation(s) are in a 1.1-kb interval within the first agrp2 intron
Pundamilia nyererei
(species)
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Agouti-related peptide 2 (agrp2)
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Published - Accepted by Curator
Agouti-related peptide 2 (agrp2)
Coloration (stripes)
Cis-regulatory,
Unknown
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Interspecific
Linkage Mapping
Kratochwil CF; Liang Y; Gerwin J ; et al. (2018)
Agouti-related peptide 2 facilitates convergent evolution of stripe patterns across cichlid fish rad[...]
1 Additional References
GP00001960
asip2b
J3JQX9
Morphology
Causal mutation(s) are in a 1.1-kb interval within the first agrp2 intron
Pundamilia nyererei
(species)
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Agouti-related peptide 2 (agrp2)
Haplochromis sauvagei
(species)
Haplochromis chilotes
(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
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)
5 Mutations:
Drosophila virilis
(species) D
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.
GP00001965
Adh
P00334
Physiology
5 mutations
Drosophila americana
(species)
Drosophila virilis
(species) D
alcohol dehydrogenase (Adh)
Drosophila virilis
(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)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Strand DJ; McDonald JF (1989)
Insertion of a copia element 5' to the Drosophila melanogaster alcohol dehydrogenase gene (adh) is a[...]
GP00001989
Adh
P00334
Physiology
insertion of a complete 5.2kb copia retroviral-like transposable element 240 bp upstream from the distal (adult) adh transcriptional start site
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
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
ALMT gene cluster
Metal tolerance
Gene Amplification,
Indel
Secale cereale
rye - (species)
Domesticated
Linkage Mapping
Collins NC; Shirley NJ; Saeed M ; et al. (2008)
An ALMT1 gene cluster controlling aluminum tolerance at the Alt4 locus of rye (Secale cereale L).
GP00000079
ALMT1
Q76LB1
Physiology
Copy number Variant
Secale cereale
rye - (species)
Secale cereale
rye - (species)
ALMT gene cluster
Secale cereale
rye - (species)
Published - Accepted by Curator
ALMT1
Metal tolerance
Cis-regulatory,
Unknown
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Raman H; Zhang K; Cakir M ; et al. (2005)
Molecular characterization and mapping of ALMT1, the aluminium-tolerance gene of bread wheat (Tritic[...]
2 Additional References
GP00000080
ALMT1
Q76LB1
Physiology
multiple regulatory changes
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
ALMT1
Triticum aestivum
bread wheat - (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
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
amylase
Starch processing
Gene Amplification,
Insertion
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001867
Amy1
P00687
Physiology
Copy Number Variation
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
amylase
Mus musculus
house mouse - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Rattus norvegicus
Norway rat - (species) D
Domesticated
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001868
Amy1
P00687
Physiology
Copy Number Variation
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species) D
amylase
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Sus scrofa
pig - (species) D
Domesticated
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001869
Amy1
P00687
Physiology
Copy Number Variation
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
amylase
Sus scrofa
pig - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Cebus capucinus
white-faced sapajou - (species) D
Intergeneric or Higher
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001870
Amy1
P00687
Physiology
3-4 copies of the amylase gene; which coincides with increased levels of amylase activity in saliva
Aotus trivirgatus
douroucouli - (species)
Callithrix jacchus
white-tufted-ear marmoset - (species)
Cebus capucinus
white-faced sapajou - (species) D
amylase
Cebus capucinus
white-faced sapajou - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Papio anubis
olive baboon - (species) D
Intergeneric or Higher
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001871
Amy1
P00687
Physiology
3-4 copies of the amylase gene; which coincides with increased levels of amylase activity in saliva
Cercocebus atys
sooty mangabey - (species)
Macaca mulatta
Rhesus monkey - (species)
Papio anubis
olive baboon - (species) D
amylase
Papio anubis
olive baboon - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Meles leucurus
Asian badger - (species) D
Intraspecific
Candidate Gene
Abduriyim Shamshidin; Nishita Yoshinori; Abramov AV ; et al. (2019
)
Variation in pancreatic amylase gene copy number among Eurasian badgers (Carnivora, Mustelidae, Mele[...]
GP00001907
Amy1
P00687
Physiology
Copy Number Variation varies between one and four in this species
Meles leucurus
Asian badger - (species)
Meles leucurus
Asian badger - (species) D
amylase
Meles leucurus
Asian badger - (species)
Published - Accepted by Curator
amylase 1 (AMY1)
Starch processing
Gene Amplification,
Insertion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Perry GH; Dominy NJ; Claw KG ; et al. (2007)
Diet and the evolution of human amylase gene copy number variation.
2 Additional References
GP00000085
AMY1A
P04745
Physiology
Probably gene duplication
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
amylase 1 (AMY1)
Homo sapiens
human - (species)
Published - Accepted by Curator
amylase 2B (AMY2B)
Starch processing
Gene Amplification,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Axelsson E; Ratnakumar A; Arendt ML ; et al. (2013)
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
4 Additional References
GP00000086
LOC479922
L7N0N6
Physiology
Copy Number Variation
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
amylase 2B (AMY2B)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (fruit)
Cis-regulatory,
Unknown
Capsicum chinense
(species)
Domesticated
Linkage Mapping
Borovsky Y; Oren-Shamir M; Ovadia R ; et al. (2004)
The A locus that controls anthocyanin accumulation in pepper encodes a MYB transcription factor homo[...]
GP00000087
AN2
A4GRU8
Morphology
unknown
Capsicum annuum
(species)
Capsicum chinense
(species)
anthocyanin2 (an2)
Capsicum chinense
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (anthocyanin accumulation in entire plant)
Cis-regulatory,
Insertion
Capsicum annuum
(species) D
Domesticated
Candidate Gene
Jung S; Venkatesh J; Kang MY ; et al. (2019)
A non-LTR retrotransposon activates anthocyanin biosynthesis by regulating a MYB transcription facto[...]
GP00002051
AN2
A4GRU8
Morphology; Physiology
insertion of a 4.2 kb non-LTR retrotransposon in the promoter (672 bp upstream of the start codon of CaAn2) which may activate expression of CaAn2 by recruiting transcription factors at the 3' UTR
Capsicum annuum
(species)
Capsicum annuum
(species) D
anthocyanin2 (an2)
Capsicum annuum
(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
apontic-like
Coloration (larval color pattern)
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Yoda S; Yamaguchi J; Mita K ; et al. (2014)
The transcription factor Apontic-like controls diverse colouration pattern in caterpillars.
2 Additional References
GP00001386
apt
O61602
Morphology
233-kb region around apt-like (pS) refined as 33kb interval in apt-like Intron 1 (+p) with uncharacterized haplotype driving apt-like upregulation in derived phenotypes
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
apontic-like
Bombyx mori
domestic silkworm - (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
AR
Sensory vibrissae (loss)
Penile spine (loss)
Cis-regulatory,
Deletion
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
McLean CY; Reno PL; Pollen AA ; et al. (2011)
Human-specific loss of regulatory DNA and the evolution of human-specific traits.
GP00000102
AR
P10275
Morphology
Morphology
Enhancer loss
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
AR
Homo sapiens
human - (species)
Published - Accepted by Curator
arginyl-transfer RNA synthetase (RARS)
Heat tolerance
Coding,
SNP
Anolis cristatellus
(species) D
Intraspecific
Association Mapping
Campbell-Staton SC; Winchell KM; Rochette NC ; et al. (2020)
Parallel selection on thermal physiology facilitates repeated adaptation of city lizards to urban he[...]
GP00002620
RARS2
Q5T160
Physiology
C>G threonine>serine at amino acid residue 558 of the RARS gene = adjacent to a predicted protein-binding region22 (AA556–557). There are four non-synonymous polymorphic sites within RARS. Only one shows a significant difference in allele frequency between forest and urban habitats across all populations.
Anolis cristatellus
(species)
Anolis cristatellus
(species) D
arginyl-transfer RNA synthetase (RARS)
Anolis cristatellus
(species)
Published - Accepted by Curator
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
ARHGEF3
Hematopoiesis (mean blood platelet volume & blood platelet count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001605
ARHGEF3
Q9NR81
Physiology
T>C at the associated SNP that disrupts a conserved GATA motif. This variant overlaps with a common-myeloid progenitor (CMP-) and megakaryocyte-erythroid progenitor (MEP-) specific regulatory element that affects the transcription of ARHGEF3
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ARHGEF3
Homo sapiens
human - (species)
Published - Accepted by Curator
aristaless
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius cydno
(species) D
Intraspecific
Linkage Mapping
Westerman EL; VanKuren NW; Massardo D ; et al. (2018)
Aristaless Controls Butterfly Wing Color Variation Used in Mimicry and Mate Choice.
GP00002059
al
Q06453
Morphology
gain of expression - exact mutation unknown
Heliconius cydno
(species)
Heliconius cydno
(species) D
aristaless
Heliconius cydno
(species)
Published - Accepted by Curator
arrow
Coloration (wing)
Cis-regulatory,
Unknown
Danaus chrysippus
African queen - (species)
Intraspecific
Association Mapping
Martin SH; Singh KS; Gordon IJ ; et al. (2020)
Whole-chromosome hitchhiking driven by a male-killing endosymbiont.
GP00002431
cnn
P54623
Morphology
The strongest associations with forewing tip (C locus) occur at the gene arrow and a phylogenetic network for a 100-kb region around this gene similarly clusters individuals by phenotype. In Drosophila Arrow is essential for Wnt signalling in wing development
Danaus chrysippus
African queen - (species)
Danaus chrysippus
African queen - (species)
arrow
Danaus chrysippus
African queen - (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
asparagine synthetase (AS)
Silk yield
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002404
AsnS
Q7KTW9
Physiology
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
asparagine synthetase (AS)
Bombyx mori
domestic silkworm - (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)
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
AtHKT1
Salt tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Rus A; Baxter I; Muthukumar B ; et al. (2006)
Natural variants of AtHKT1 enhance Na+ accumulation in two wild populations of Arabidopsis.
1 Additional References
GP00000124
HKT1
Q84TI7
Physiology
725bp deletion of part of upstream repeat region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtHKT1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtHKT1
Salt tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Rus A; Baxter I; Muthukumar B ; et al. (2006)
Natural variants of AtHKT1 enhance Na+ accumulation in two wild populations of Arabidopsis.
1 Additional References
GP00000125
HKT1
Q84TI7
Physiology
687bp deletion of part of upstream repeat region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtHKT1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtLURE1
Fertilization (pollen-tube attraction by egg)
Gene Amplification,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Interspecific
Candidate Gene
Takeuchi H; Higashiyama T (2012)
A species-specific cluster of defensin-like genes encodes diffusible pollen tube attractants in Arab[...]
GP00000126
LURE1.1
Q4VP09
Physiology
Gene birth
Arabidopsis lyrata
(species)
Arabidopsis thaliana
thale cress - (species)
AtLURE1
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
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
ATXN1
Body fat distribution (attenuation)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001552
ATXN1
P54253
Physiology
A>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ATXN1
Homo sapiens
human - (species)
Published - Accepted by Curator
AZI1
Root growth (root growth responses to low zinc conditions)
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Bouain N; Satbhai SB; Korte A ; et al. (2018)
Natural allelic variation of the AZI1 gene controls root growth under zinc-limiting condition.
GP00001769
AZI1
Q9SU35
Physiology
exact causing mutation(s) unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AZI1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
B4GALNT2
Fertility (increased ovulation rate)
Cis-regulatory,
Unknown
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Drouilhet L; Mansanet C; Sarry J ; et al. (2013)
The highly prolific phenotype of Lacaune sheep is associated with an ectopic expression of the B4GAL[...]
GP00001979
B4galnt2
Q09199
Physiology
candidate region to 197kb ; putative mutation (g.36938224T>A) in intron 7or (g.37034573A>G) 96 kb away in an intergenic region
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
B4GALNT2
Ovis aries
sheep - (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
bab
Coloration (abdomen; female)
Cis-regulatory,
Unknown
Drosophila yakuba
(species)
Interspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002008
bab1
Q9W0K7
Morphology
causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.
Drosophila melanogaster
fruit fly - (species)
Drosophila yakuba
(species)
bab
Drosophila yakuba
(species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
Cis-regulatory,
Unknown
Drosophila fuyamai
(species)
Interspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002009
bab1
Q9W0K7
Morphology
causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.
Drosophila melanogaster
fruit fly - (species)
Drosophila fuyamai
(species)
bab
Drosophila fuyamai
(species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
Cis-regulatory,
Unknown
Drosophila auraria
(species)
Interspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002010
bab1
Q9W0K7
Morphology
causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.
Drosophila melanogaster
fruit fly - (species)
Drosophila auraria
(species)
bab
Drosophila auraria
(species)
Published - Accepted by Curator
bab
Coloration (abdomen ; sexual trait ; plasticity)
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
De Castro S; Peronnet F; Gilles JF ; et al. (2018)
bric à brac (bab), a central player in the gene regulatory network that mediates thermal plasticity [...]
GP00002423
bab1
Q9W0K7
Morphology
a 56-bp deletion that removes two binding sites for Abdominal B (Abd-B), a direct activator of bab, is present in a cis-regulatiry region of bab1 (within the first intron of bab1) in the Dark line.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
bab
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab
Insect pheromone attraction
Cis-regulatory,
Unknown
Ostrinia nubilalis
European corn borer - (species)
Intraspecific
Association Mapping
Unbehend M; Kozak GM; Koutroumpa F ; et al. (2021)
bric à brac controls sex pheromone choice by male European corn borer moths.
GP00002424
bab1
Q9W0K7
Behavior; Physiology
A genome-wide association study of pheromone preference under field conditions indicates that preference is controlled by sequence variation within the 293 kb bab intron 1.
Ostrinia nubilalis
European corn borer - (species)
Ostrinia nubilalis
European corn borer - (species)
bab
Ostrinia nubilalis
European corn borer - (species)
Published - Accepted by Curator
bab
Coloration (wing; male ; irridescence)
Cis-regulatory,
Unknown
Interspecific
Linkage Mapping
Ficarrotta V; Hanly JJ; Loh LS ; et al. (2022)
A genetic switch for male UV iridescence in an incipient species pair of sulphur butterflies.
GP00002425
bab1
Q9W0K7
Morphology
no fixed coding variation at the bab locus between the sister species. Lower expression of bab in the irridescent scale species. CRISPR bab mutants show that bab is a negative regulator of irridescent scales.
Colias philodice
clouded sulphur butterfly - (species)
bab
Published - Accepted by Curator
bab
Coloration (abdomen; female)
2 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002610
bab1
Q9W0K7
Morphology
2 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
2 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002611
bab1
Q9W0K7
Morphology
2 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab1
Coloration (abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Interspecific
Candidate Gene
Williams TM; Selegue JE; Werner T ; et al. (2008)
The regulation and evolution of a genetic switch controlling sexually dimorphic traits in Drosophila[...]
GP00000131
bab1
Q9W0K7
Morphology
inter - ABD-B- and DSX- binding site spacing was reduced in regions I, II, and III
gain of ABD-B binding site 13
Drosophila willistoni
(species)
Drosophila melanogaster
fruit fly - (species) D
bab1
Drosophila melanogaster
fruit fly - (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
BarH1
Coloration (wing; sex-specific; female-specific)
Cis-regulatory,
Insertion
Colias croceus
clouded yellow - (species) D
Intraspecific
Association Mapping
Woronik A; Tunström K; Perry MW ; et al. (2019)
A transposable element insertion is associated with an alternative life history strategy.
GP00002095
B-H1
Q24255
Morphology
insertion of a Jockey-like transposable element 6 kb downstream of the Colias homolog of BarH-1. BarH-1 expression suppresses orange coloration in the wings.
Colias croceus
clouded yellow - (species)
Colias croceus
clouded yellow - (species) D
BarH1
Colias croceus
clouded yellow - (species)
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
BCMO1
Carotenoid content
2 Mutations:
Cis-regulatory
SNP
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Le Bihan-Duval E; Nadaf J; Berri C ; et al. (2011)
Detection of a Cis [corrected] eQTL controlling BCMO1 gene expression leads to the identification of[...]
GP00000137
BCO1
Q9HAY6
Morphology; Physiology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
BCMO1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (coat)
Cis-regulatory,
Unknown
Vermivora cyanoptera
blue-winged warbler - (species)
Interspecific
Association Mapping
Toews DP; Taylor SA; Vallender R ; et al. (2016)
Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.
GP00001332
BCO2
Q9BYV7
Morphology
unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region
Vermivora chrysoptera
Golden-winged warbler - (species)
Vermivora cyanoptera
blue-winged warbler - (species)
BCO2 = beta-carotene oxygenase 2
Vermivora cyanoptera
blue-winged warbler - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (ventral scales)
Cis-regulatory,
Unknown
Podarcis muralis
Common wall lizard - (species)
Intraspecific
Association Mapping
Andrade P; Pinho C; Pérez I de Lanuza G ; et al. (2019)
Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall [...]
GP00002120
Bco2
Q99NF1
Morphology
Podarcis muralis
Common wall lizard - (species)
Podarcis muralis
Common wall lizard - (species)
BCO2 = beta-carotene oxygenase 2
Podarcis muralis
Common wall lizard - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (sexual dichromatism, male-specific)
Unknown,
Unknown
Serinus canaria
common canary - (species)
Intergeneric or Higher
Linkage Mapping
Gazda MA; Araújo PM; Lopes RJ ; et al. (2020)
A genetic mechanism for sexual dichromatism in birds.
GP00002139
BCO2
Q9BYV7
Morphology
Gene expression study suggests a cis-regulatory difference ; and coding mutations are unlikely to be causal
Spinus cucullatus
red siskin - (species)
Serinus canaria
common canary - (species)
BCO2 = beta-carotene oxygenase 2
Serinus canaria
common canary - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (beak)
Cis-regulatory,
Unknown
Geospiza scandens
(species) D
Geospiza fortis
medium ground-finch - (species) D
Geospiza conirostris
(species) D
Geospiza magnirostris
(species) D
Geospiza fuliginosa
(species) D
Camarhynchus parvulus
(species) D
Camarhynchus pauper
(species) D
Camarhynchus pallidus
woodpecker finch - (species) D
Geospiza difficilis
(species) D
Intraspecific
Association Mapping
Enbody ED; Sprehn CG; Abzhanov A ; et al. (2021)
A multispecies BCO2 beak color polymorphism in the Darwin's finch radiation.
GP00002384
BCO2
Q9BYV7
Morphology
"By closely inspecting this region in a combined sample of all 456 finches of the two species we identified a single exonic SNP with a likelihood ratio test (LRT) statistic exceeding 166 (Figure 1C). It is also the only consistently elevated SNP in an analysis of each species alone (Figure S1), is the best fit variant under a recessive model (STAR Methods), and occurs on multiple haplotypes (Figure S1C). This SNP (chr24:6,166,878; p6166878 hereafter) leads to a synonymous change 32 bp into exon 4 of BCO2. "
"The functional importance of the observed synonymous change is uncertain, and the presence of an unidentified linked causal variant cannot be completely ruled out (see Conclusions). However, a functional explanation is possible because codon usage can be under strong selection30 and may have functional consequences on translation,30 RNA stability,31 and transcription.32 Notably, p6166878 changes the highest frequency valine codon (ƒGTG = 27.3%) to the lowest (ƒGTA = 7.6%) in the reference genome. This is in line with the observed phenotypic effect of the yellow mutation because a lower abundance codon is expected to be associated with lower protein expression.33 In this case, less BCO2 activity results in more carotenoid deposition in the yellow morph. In fact, we found that yellow homozygotes showed significantly lower BCO2 expression compared to pink homozygotes in the upper beak of developing embryos (Figure 1F) that were sourced from a variety of different species and islands (Table S1): small sample sizes prohibit species-specific analysis. Among the six heterozygous individuals, the pink allele was expressed more than the yellow allele in five samples tested using a droplet-digital PCR (Figure S2C). Differences in expression between the two alleles, and in the absence of alternative splice variants (STAR Methods), raise the possibility that the synonymous change alters transcription factor binding affinity in exon 4. Further research into tissue-specific expression and the specific transcription factors that regulate BCO2 is warranted."
Geospiza scandens
(species)
Geospiza fortis
medium ground-finch - (species)
Geospiza conirostris
(species)
Geospiza magnirostris
(species)
Geospiza fuliginosa
(species)
Camarhynchus parvulus
(species)
Camarhynchus pauper
(species)
Camarhynchus pallidus
woodpecker finch - (species)
Geospiza difficilis
(species)
Geospiza scandens
(species) D
Geospiza fortis
medium ground-finch - (species) D
Geospiza conirostris
(species) D
Geospiza magnirostris
(species) D
Geospiza fuliginosa
(species) D
Camarhynchus parvulus
(species) D
Camarhynchus pauper
(species) D
Camarhynchus pallidus
woodpecker finch - (species) D
Geospiza difficilis
(species) D
BCO2 = beta-carotene oxygenase 2
Geospiza scandens
(species)
Geospiza fortis
medium ground-finch - (species)
Geospiza conirostris
(species)
Geospiza magnirostris
(species)
Geospiza fuliginosa
(species)
Camarhynchus parvulus
(species)
Camarhynchus pauper
(species)
Camarhynchus pallidus
woodpecker finch - (species)
Geospiza difficilis
(species)
Published - Accepted by Curator
benzoic acid/salicylic acid carboxyl methyltransferase (BSMT)
Fragrance
Cis-regulatory,
Unknown
Petunia axillaris
(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[...]
GP00001766
BSMT1
Q6XMI3
Physiology
Allele-specific expression in hybrids - de novo expression in P. axillaris
Petunia integrifolia subsp. inflata
(subspecies)
Petunia axillaris
(species) D
benzoic acid/salicylic acid carboxyl methyltransferase (BSMT)
Petunia axillaris
(species)
Published - Accepted by Curator
benzoyl-CoA:benzylalcohol/2-phenylethanol benzoyltransferase (BPBT)
Fragrance
Cis-regulatory,
Unknown
Petunia axillaris
(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[...]
GP00001765
BPBT
A0A172W606
Physiology
Allele-specific expression in hybrids - de novo expression in P. axillaris
Petunia integrifolia subsp. inflata
(subspecies)
Petunia axillaris
(species) D
benzoyl-CoA:benzylalcohol/2-phenylethanol benzoyltransferase (BPBT)
Petunia axillaris
(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-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 (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
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
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
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
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
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)
Cis-regulatory,
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[...]
GP00002329
Bmp15
Q9Z0L4
Physiology
T>A SPN upstream of the BMP15 gene associated with the prolificacy variability (P = 1.93E-11). Effect of +0.20 lamb per lambing at the heterozygous state.
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP2
Fertility (egg production)
Bird head morphology (male comb)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Johnsson M; Gustafson I; Rubin CJ ; et al. (2012)
A sexual ornament in chickens is affected by pleiotropic alleles at HAO1 and BMP2, selected during d[...]
1 Additional References
GP00000151
BMP2
Q90751
Physiology
Morphology
unknown; but intergenic QTL peak with decomposed effects on expression of BMP2 and HAO1
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
BMP2
Gallus gallus
chicken - (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
BMP6
Tooth number
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Cleves PA; Ellis NA; Jimenez MT ; et al. (2014)
Evolved tooth gain in sticklebacks is associated with a cis-regulatory allele of Bmp6.
2 Additional References
GP00000154
Bmp6
P20722
Morphology
Candidate enhancer of 190bp recapitulating tooth and fin expression of BMP6
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
BMP6
Gasterosteus aculeatus
three-spined stickleback - (species)
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 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
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
c1
Coloration (seed)
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Hattori T; Vasil V; Rosenkrans L ; et al. (1992)
The Viviparous-1 gene and abscisic acid activate the C1 regulatory gene for anthocyanin biosynthesis[...]
1 Additional References
GP00000167
C1
P10290
Morphology
5bp insertion in the proximal promoter that creates a new binding site for VP1; a transcription factor that regulates kernel maturation; so that the pigment pathway is turned on while the kernel matures; giving blue kernels
Zea mays
(species)
Zea mays
(species) D
c1
Zea mays
(species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000164
BtR
Q19KJ3
Physiology
24bp in-frame deletion
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
SNP
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Zhang H; Tian W; Zhao J ; et al. (2012)
Diverse genetic basis of field-evolved resistance to Bt cotton in cotton bollworm from China.
GP00000165
BtR
Q19KJ3
Physiology
E1266L R1268E and E1270V - whether each mutation has an effect or only one of them is unknown
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
Callipyge (CLPG1)
Muscular mass (double-muscling ; paternal effect)
Cis-regulatory,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Takeda H; Caiment F; Smit M ; et al. (2006)
The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.
5 Additional References
GP00000168
DIO3
Q6DN07
Morphology; Physiology
1bp change in the regulatory region of the DLK1-GTL2 imprinted gene cluster
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
Callipyge (CLPG1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Carotenoid-binding protein (CBP)
Coloration (silk)
Gene Amplification,
Complex Change
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Sakudoh T; Nakashima T; Kuroki Y ; et al. (2011)
Diversity in copy number and structure of a silkworm morphogenetic gene as a result of domestication[...]
1 Additional References
GP00000169
Q1HE01
Morphology
Copy Number Variation (up to 20 copies in B. mori ; only one in the wild form; B. mandarina)
Bombyx mandarina
wild silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Carotenoid-binding protein (CBP)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
CAST
Meat tenderness
Cis-regulatory,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Nonneman D; Lindholm-Perry AK; Shackelford SD ; et al. (2011)
Predictive markers in calpastatin for tenderness in commercial pig populations.
GP00000170
CAST
P20810
Physiology
4 candidate SNPs in putative enhancers with nuclear factor-binding properties
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
CAST
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
catechol-O-methyltransferase (COMT)
Pain sensitivity
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Nackley AG; Shabalina SA; Tchivileva IE ; et al. (2006)
Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary[...]
GP00000171
COMT
P21964
Behavior
G/C - The synonymous mutation(s) affect mRNA stability and loop structures
Homo sapiens
human - (species)
Homo sapiens
human - (species)
catechol-O-methyltransferase (COMT)
Homo sapiens
human - (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
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
CBF2-CBF4; CBF13
Temperature tolerance (cold)
Gene Amplification,
Complex Change
Hordeum vulgare
(species)
Domesticated
Candidate Gene
Knox AK; Dhillon T; Cheng H ; et al. (2010)
CBF gene copy number variation at Frost Resistance-2 is associated with levels of freezing tolerance[...]
GP00000176
B1NSN2
Physiology
tandem duplication of CBF2-CBF4 region and/or pseudogenisation of CBF13
Hordeum vulgare
(species)
Hordeum vulgare
(species)
CBF2-CBF4; CBF13
Hordeum vulgare
(species)
Published - Accepted by Curator
CCAAT-enhancer-binding protein alpha (CEBPA)
Hematopoiesis (blood basophil count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001603
CEBPA
P49715
Physiology
C>T at the associated SNP which resides 39kb dowstream from CEBPA near a separate enhancer that influences CEBPA expression along various myeloid lineages. T allele was associated with a 28.6% reduction in enhancer activity.
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CCAAT-enhancer-binding protein alpha (CEBPA)
Homo sapiens
human - (species)
Published - Accepted by Curator
CCL3L1
Pathogen resistance (HIV)
Gene Amplification,
Indel
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Gonzalez E; Kulkarni H; Bolivar H ; et al. (2005)
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
GP00000177
CCL3L1
P16619
Physiology
Copy number Variant
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
CCL3L1
Homo sapiens
human - (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
CEP55
Recombination rate (female)
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001667
CEP55
E1B8M0
Physiology
Associated SNP located near the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
CEP55
Bos taurus
cattle - (species)
Published - Accepted by Curator
Cf-4/9
Pathogen resistance
Gene Loss,
Complex Change
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Parniske M; Hammond-Kosack KE; Golstein C ; et al. (1997)
Novel disease resistance specificities result from sequence exchange between tandemly repeated genes[...]
GP00000181
Cf-4A
Q7DLS4
Physiology
partial loss of two gene coding regions located in tandem; resulting in a chimeric gene
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species)
Cf-4/9
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
CG11699
Xenobiotic resistance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Mateo L; Ullastres A; González J (2014)
A transposable element insertion confers xenobiotic resistance in Drosophila.
GP00001399
Dmel\CG11699
Q9VYX5
Physiology
insertion of a 186bp POGON1 element in the 3'UTR
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
CG11699
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Chalcone synthase D (CHS-D)
Coloration (flower)
Unknown,
Insertion
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Habu Y; Hisatomi Y; Iida S (1998)
Molecular characterization of the mutable flaked allele for flower variegation in the common morning[...]
GP00001459
CHSD
O22045
Morphology
insertion of a 3.9kb long transposable element Tip100 in intron
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
Chalcone synthase D (CHS-D)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
Chalcone synthase D (CHS-D)
Coloration (flower)
Unknown,
Insertion
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Habu Y; Hisatomi Y; Iida S (1998)
Molecular characterization of the mutable flaked allele for flower variegation in the common morning[...]
GP00001460
CHSD
O22045
Morphology
2 insertions of Tip100 in opposite orientation at different sites within the same intron
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
Chalcone synthase D (CHS-D)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
Chalk5
Grain chalkiness
Amylose content
Grain yield
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Intraspecific
Linkage Mapping
Li Y; Fan C; Xing Y ; et al. (2014)
Chalk5 encodes a vacuolar H(+)-translocating pyrophosphatase influencing grain chalkiness in rice.
GP00001309
Chalk5
A2Y0L3
Morphology
Physiology
Physiology
Two candidate SNPs at positions -721 and - 485 in promoter region
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Chalk5
Oryza sativa
rice - (species)
Published - Accepted by Curator
Chit beta-GlcNAcase
Silk fineness
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002401
P49010
Physiology
BmChit β-GlcNAcase gene is expressed at a significantly higher level in fine silk strains (Suxiu, Chunfeng) compared to coarse silk strains. CRISPR-cas9 mediated knockout of the BmChit β-GlcNAcase gene produced coarser silk.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Chit beta-GlcNAcase
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide ; benzoylurea)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Douris V; Steinbach D; Panteleri R ; et al. (2016)
Resistance mutation conserved between insects and mites unravels the benzoylurea insecticide mode of[...]
GP00001600
CHS1
A3KCN0
Physiology
T>G p.I1042M (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
Chitin synthase 1 (CHS1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; benzoylurea)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Douris V; Steinbach D; Panteleri R ; et al. (2016)
Resistance mutation conserved between insects and mites unravels the benzoylurea insecticide mode of[...]
GP00001601
CHS1
A3KCN0
Physiology
A>T p.I1042F (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
Chitin synthase 1 (CHS1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; etoxazole acaricide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species)
Intraspecific
Linkage Mapping
Demaeght P; Osborne EJ; Odman-Naresh J ; et al. (2014)
High resolution genetic mapping uncovers chitin synthase-1 as the target-site of the structurally di[...]
1 Additional References
GP00001602
chs1
H9U0G2
Physiology
A>T p.I1017F (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species)
Chitin synthase 1 (CHS1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; benzoylurea)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Suzuki Y; Shiotsuki T; Jouraku A ; et al. (2017)
Benzoylurea resistance in western flower thrips Frankliniella occidentalis (Thysanoptera: Thripidae)[...]
GP00002628
CHS1
A3KCN0
Physiology
isoleucine to methionine
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
Chitin synthase 1 (CHS1)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
CHKov1
Pathogen resistance
Xenobiotic resistance (insecticide)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Magwire MM; Bayer F; Webster CL ; et al. (2011)
Successive increases in the resistance of Drosophila to viral infection through a transposon inserti[...]
1 Additional References
GP00000182
CHKov1
Q961V7
Physiology
Physiology
Insertion of a Doc TE element resulting in novel; seemingly functional short protein
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
CHKov1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
chloroquine resistance transporter
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001533
CRT
Q9N623
Physiology
p.Ile356Thr
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
chloroquine resistance transporter
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
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
CIS1
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001313
ATG31
Q12421
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
CIS1
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
Clock
Circadian rhythm
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002409
Clk
O61735
Physiology
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Clock
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
CLV3
Fruit size
Cis-regulatory,
Inversion
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Xu C; Liberatore KL; MacAlister CA ; et al. (2015)
A cascade of arabinosyltransferases controls shoot meristem size in tomato.
GP00001565
CLV3
Q9XF04
Morphology
A 294 kb inversion with a breakpoint 1 kb upstream of CLV3
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species) D
CLV3
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
cly1
Pollen shedding (Cleistogamy; lodicule size)
Cis-regulatory,
SNP
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Nair SK; Wang N; Turuspekov Y ; et al. (2010)
Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...]
1 Additional References
GP00001314
AP2
P47927
Morphology
A>G @position 3084; in a miRNA targeting site.
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
cly1
Hordeum vulgare
(species)
Published - Accepted by Curator
cly1
Pollen shedding (Cleistogamy; lodicule size)
Cis-regulatory,
SNP
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Nair SK; Wang N; Turuspekov Y ; et al. (2010)
Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...]
1 Additional References
GP00001315
AP2
P47927
Morphology
A>C @position 3090; in a miRNA targeting site.
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
cly1
Hordeum vulgare
(species)
Published - Accepted by Curator
cly1
Pollen shedding (Cleistogamy; lodicule size)
Cis-regulatory,
Epigenetic Change
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Wang N; Ning S; Wu J ; et al. (2015)
An epiallele at cly1 affects the expression of floret closing (cleistogamy) in barley.
GP00001316
AP2
P47927
Morphology
T>C @position -245; creating differential methylation
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
cly1
Hordeum vulgare
(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,
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
CmWIP1
Flower sex determination (female vs. hermaphrodite)
Cis-regulatory,
Insertion
Cucumis melo
muskmelon - (species) D
Domesticated
Linkage Mapping
Martin A; Troadec C; Boualem A ; et al. (2009)
A transposon-induced epigenetic change leads to sex determination in melon.
GP00000188
WIP1
Q8GXA4
Physiology
Promoter insertion of a Transcription Factor Binding Site allowing propagation of heritable methylation
Cucumis melo
muskmelon - (species)
Cucumis melo
muskmelon - (species) D
CmWIP1
Cucumis melo
muskmelon - (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
cortex
Coloration (wing ; industrial melanism ; camouflage)
Cis-regulatory,
Insertion
Biston betularia
pepper-and-salt moth - (species) D
Intraspecific
Linkage Mapping
Van't Hof AE; Campagne P; Rigden DJ ; et al. (2016)
The industrial melanism mutation in British peppered moths is a transposable element.
GP00001804
cort
Q960N3
Morphology
Putative transposon insertion within the first intron ; consists of of ~9 kb tandemly repeated 2.3 times + three short tandem subrepeat units
Biston betularia
pepper-and-salt moth - (species)
Biston betularia
pepper-and-salt moth - (species) D
cortex
Biston betularia
pepper-and-salt moth - (species)
Published - Accepted by Curator
cortex
Coloration (wing)
Cis-regulatory,
Deletion
Heliconius melpomene
postman butterfly - (species) D
Domesticated
Association Mapping
Hanly JJ; Livraghi L; Heryanto C ; et al. (2022)
A large deletion at the cortex locus eliminates butterfly wing patterning.
GP00001805
cort
Q960N3
Morphology
78-kb deletion in the 5′ region of the cortex gene that includes a facultative 5′UTR exon detected in larval wing disk transcriptomes. Phenotypic effect confirmed by CRISPR mutagenesis of this exon. The ivory deletion causes the loss of 1 of 2 promoters.
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species) D
cortex
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Complex Change
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002413
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002414
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002415
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002416
cort
Q960N3
Morphology
Large inversion and many mutations in the large inverted region.
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; body)
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species)
Domesticated
Linkage Mapping
Ito K; Katsuma S; Kuwazaki S ; et al. (2016)
Mapping and recombination analysis of two moth colour mutations, Black moth and Wild wing spot, in t[...]
GP00002417
cort
Q960N3
Morphology
Mapping to a 2-Mb-long region which contains the cortex gene.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species)
cortex
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
cortex
Coloration (wing)
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species)
Domesticated
Linkage Mapping
Ito K; Katsuma S; Kuwazaki S ; et al. (2016)
Mapping and recombination analysis of two moth colour mutations, Black moth and Wild wing spot, in t[...]
GP00002418
cort
Q960N3
Morphology
Mapping to a 100-kb-long region which contains the cortex gene.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species)
cortex
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
cortex
Coloration (wing; mimicry)
Unknown,
Unknown
Papilio clytia
common mime swallowtail - (species)
Intraspecific
Association Mapping
VanKuren NW; Massardo D; Nallu S ; et al. (2019)
Butterfly Mimicry Polymorphisms Highlight Phylogenetic Limits of Gene Reuse in the Evolution of Dive[...]
GP00002419
cort
Q960N3
Morphology
Mapping to a 500-kb region that contains the cortex gene
Papilio clytia
common mime swallowtail - (species)
Papilio clytia
common mime swallowtail - (species)
cortex
Papilio clytia
common mime swallowtail - (species)
Published - Accepted by Curator
cortex
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002420
cort
Q960N3
Morphology
No variation in coding region. Strong association with cis-regulatory SNP.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
cortex
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
cortex
Coloration (wing)
Cis-regulatory,
Insertion
Heliconius melpomene
postman butterfly - (species) D
Intraspecific
Association Mapping
Livraghi L; Hanly JJ; Van Bellghem SM ; et al. (2021)
Cortex cis-regulatory switches establish scale colour identity and pattern diversity in Heliconius.
GP00002660
cort
Q960N3
Morphology
Insertion of two transposable elements (BovB-like and Helitron-like)
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species) D
cortex
Heliconius melpomene
postman butterfly - (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
CPLX1
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001659
CPLX1
Q0IIL7
Physiology
On chromosome 6. Associated SNP in the intron of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
CPLX1
Bos taurus
cattle - (species)
Published - Accepted by Curator
CPR
Xenobiotic resistance
Gene Amplification,
Insertion
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Linkage Mapping
Fotoukkiaii SM; Wybouw N; Kurlovs AH ; et al. (2021)
High-resolution genetic mapping reveals cis-regulatory and copy number variation in loci associated [...]
GP00002398
Cpr
Q27597
Physiology
Pyflubumide resistant populations are estimated to harbor three CPR copies by two methods, whereas susceptible populations have a single CPR copy.
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
CPR
Tetranychus urticae
two-spotted spider mite - (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)
Circadian rhythm
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002408
cry
O77059
Physiology
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Cryptochrome 2 (CRY2)
Bombyx mori
domestic silkworm - (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
csf1
Coloration
Cis-regulatory,
Unknown
Oryzias woworae
(species) D
Interspecific
Linkage Mapping
Ansai S; Mochida K; Fujimoto S ; et al. (2021)
Genome editing reveals fitness effects of a gene for sexual dichromatism in Sulawesian fishes.
GP00002366
CSF1
P09603
Morphology
Oryzias celebensis
Celebes medaka - (species)
Oryzias woworae
(species) D
csf1
Oryzias woworae
(species)
Published - Accepted by Curator
csf1a
Coloration (loss of stripes)
Cis-regulatory,
Unknown
Danio albolineatus
pearl danio - (species) D
Interspecific
Candidate Gene
Patterson LB; Bain EJ; Parichy DM (2014)
Pigment cell interactions and differential xanthophore recruitment underlying zebrafish stripe reite[...]
GP00002123
csf1a
A0A0B5JQ49
Morphology
Danio rerio
zebrafish - (species)
Danio albolineatus
pearl danio - (species) D
csf1a
Danio albolineatus
pearl danio - (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
CYC-like HaCYC2c
Flower morphology
Cis-regulatory,
Insertion
Helianthus annuus
common sunflower - (species) D
Intraspecific
Linkage Mapping
Chapman MA; Tang S; Draeger D ; et al. (2012)
Genetic analysis of floral symmetry in Van Gogh's sunflowers reveals independent recruitment of CYCL[...]
GP00000193
CYC
O49250
Morphology
999bp insertion in promoter
Helianthus annuus
common sunflower - (species)
Helianthus annuus
common sunflower - (species) D
CYC-like HaCYC2c
Helianthus annuus
common sunflower - (species)
Published - Accepted by Curator
CYC-like RAY1/RAY2
Flower morphology
Gene Amplification,
Complex Change
Senecio vulgaris
(species)
Intraspecific
Linkage Mapping
Kim M; Cui ML; Cubas P ; et al. (2008)
Regulatory genes control a key morphological and ecological trait transferred between species.
GP00000194
CYC
O49250
Morphology
Gene gain by hybridization
Senecio vulgaris
(species)
Senecio vulgaris
(species)
CYC-like RAY1/RAY2
Senecio vulgaris
(species)
Published - Accepted by Curator
Cycloidea (Lcyc)
Flower morphology
Cis-regulatory,
Epigenetic Change
Linaria vulgaris
common toadflax - (species) D
Intraspecific
Linkage Mapping
Cubas P; Vincent C; Coen E (1999)
An epigenetic mutation responsible for natural variation in floral symmetry.
GP00000197
CYC
O49250
Morphology
Stable methylation
Linaria vulgaris
common toadflax - (species)
Linaria vulgaris
common toadflax - (species) D
Cycloidea (Lcyc)
Linaria vulgaris
common toadflax - (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
Cyp12d1
Xenobiotic resistance (caffeine tolerance)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Najarro MA; Hackett JL; Smith BR ; et al. (2015)
Identifying Loci Contributing to Natural Variation in Xenobiotic Resistance in Drosophila.
GP00000198
Cyp12d1-d
Q7KR10
Physiology
Copy number Variant
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Cyp12d1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CYP19A1
Coloration (feathers)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Li J; Davis BW; Jern P ; et al. (2019)
Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering [...]
GP00002050
CYP19A1
P11511
Morphology
7524 bp insertion at the 5'end of CYP19A1 of an intact endogenous retrovirus (99% sequence identity to the avian leukosis virus ev-1 and ev-21 strains suggesting a recent integration) - The ERV 3'LTR contains a powerful transcriptional enhancer and core promoter with TATA box.
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
CYP19A1
Gallus gallus
chicken - (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
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
CYP321A8
Xenobiotic resistance (organophosphate; chlorpyrifos; pyrethroid; cypermethrin; deltamethrin)
Cis-regulatory,
SNP
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Candidate Gene
Hu B; Huang H; Hu S ; et al. (2021)
Changes in both trans- and cis-regulatory elements mediate insecticide resistance in a lepidopteron [...]
GP00002394
CYP321A8
A0A286QUG5
Physiology
A > G at position -197bp in a cis-regulatory region, leading to increased expression of the gene
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
CYP321A8
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Association Mapping
Joußen N; Agnolet S; Lorenz S ; et al. (2012)
Resistance of Australian Helicoverpa armigera to fenvalerate is due to the chimeric P450 enzyme CYP3[...]
1 Additional References
GP00002477
CYP337B3
A0A0H3V333
Physiology
The unique P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. The exclusive presence of CYP337B3 in resistant insects of this strain confers a 42-fold resistance to fenvalerate.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Rasool Akhtar; Joußen Nicole; Lorenz Sybille ; et al. (2014
)
An independent occurrence of the chimeric P450 enzyme CYP337B3 of Helicoverpa armigera confers cyper[...]
1 Additional References
GP00002478
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. The Pakistani and the Australian CYP337B3 alleles differ by 18 synonymous and three nonsynonymous SNPs and additionally in the length and sequence of the intron.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Han Yangchun; Yu Wanting; Zhang Weiqing ; et al. (2015
)
Variation in P450-mediated fenvalerate resistance levels is not correlated with CYP337B3 genotype in[...]
1 Additional References
GP00002479
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Sequence analysis revealed a distinct CYP337B3 allele (CYP337B3v2) in the Pakistani population and three distinct alleles in the Chinese populations (CYP337B3v2 CYP337B3v3 CYP337B3v4) that differ from the Australian allele (CYP337B3v1) by a number of synonymous and non-synonymous SNPs in addition to variability of the intron sequence and size. This variation may result from different crossing-over positions during recombination of the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-over.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Han Yangchun; Yu Wanting; Zhang Weiqing ; et al. (2015
)
Variation in P450-mediated fenvalerate resistance levels is not correlated with CYP337B3 genotype in[...]
1 Additional References
GP00002480
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Sequence analysis revealed a distinct CYP337B3 allele (CYP337B3v2) in the Pakistani population and three distinct alleles in the Chinese populations (CYP337B3v2 CYP337B3v3 CYP337B3v4) that differ from the Australian allele (CYP337B3v1) by a number of synonymous and non-synonymous SNPs in addition to variability of the intron sequence and size. This variation may result from different crossing-over positions during recombination of the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-over.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Han Yangchun; Yu Wanting; Zhang Weiqing ; et al. (2015
)
Variation in P450-mediated fenvalerate resistance levels is not correlated with CYP337B3 genotype in[...]
1 Additional References
GP00002481
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Sequence analysis revealed a distinct CYP337B3 allele (CYP337B3v2) in the Pakistani population and three distinct alleles in the Chinese populations (CYP337B3v2 CYP337B3v3 CYP337B3v4) that differ from the Australian allele (CYP337B3v1) by a number of synonymous and non-synonymous SNPs in addition to variability of the intron sequence and size. This variation may result from different crossing-over positions during recombination of the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-over.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
GP00002482
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Distinct alleles resulting from different crossing-overs within the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-overs.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
GP00002483
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Distinct alleles resulting from different crossing-overs within the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-overs.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Complex Change
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
GP00002484
CYP337B3
A0A0H3V333
Physiology
The P450 chimeric gene CYP337B3 arose from unequal crossing-over between two parental P450 genes CYP337B2 and CYP337B1 . CYP337B3 can metabolize pyrethroids in vitro. Neither parental enzyme has the ability to metabolize pyrethroids in vitro. Distinct alleles resulting from different crossing-overs within the CYP337B1 and CYP337B2 parental genes with different alleles of CYP337B1 and CYP337B2 involved in the crossing-overs.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
CYP337B3
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Insertion
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
1 Additional References
GP00002485
CYP337B3
A0A0H3V333
Physiology
Introgression of the CYP337B3v2 resistant allele from Helicoverpa armigera
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
CYP337B3
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
CYP392A16
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002471
Ace
P07140
Physiology
several non-synonymous SNP - exact causing amino acid change(s) unknown. Functional analysis of the putative promoter region from the resistant and susceptible parental strains revealed a higher reporter gene expression confirming the presence of cis-acting regulatory mechanisms.
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
CYP392A16
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
CYP392E8
Xenobiotic resistance
Cis-regulatory,
Unknown
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Linkage Mapping
Fotoukkiaii SM; Wybouw N; Kurlovs AH ; et al. (2021)
High-resolution genetic mapping reveals cis-regulatory and copy number variation in loci associated [...]
GP00002397
Physiology
increase in transcription of CYP392E8.
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
CYP392E8
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
CYP4F2
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
1 Additional References
GP00000203
CYP4F2
P78329
Physiology
V433M
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP4F2
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP6AB3
Xenobiotic resistance (imperatorin)
Coding,
SNP
Depressaria pastinacella
(species)
Intraspecific
Candidate Gene
Mao W; Rupasinghe SG; Zangerl AR ; et al. (2007)
Allelic variation in the Depressaria pastinacella CYP6AB3 protein enhances metabolism of plant allel[...]
GP00000204
CYP6AB3
Q7YZS3
Physiology
Ala92Val (and potentiallly 4 other a.a. substitutions)
Depressaria pastinacella
(species)
Depressaria pastinacella
(species)
CYP6AB3
Depressaria pastinacella
(species)
Published - Accepted by Curator
CYP6AY1
Xenobiotic resistance (imidacloprid; buprofezin)
Cis-regulatory,
Unknown
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Pang R; Li Y; Dong Y ; et al. (2014)
Identification of promoter polymorphisms in the cytochrome P450 CYP6AY1 linked with insecticide resi[...]
GP00002399
CYP6AY1
A0A1L1VFS3
Physiology
CYP6AY1 is expressed at a higher level in a field-collected BPH strain that is highly resistant to both imidacloprid and buprofezin. Polymorphism in the promoter region associated with various levels of resistance.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6AY1
Nilaparvata lugens
brown planthopper - (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
CYP6CM1
Xenobiotic resistance (insecticide; imidacloprid)
Cis-regulatory,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Karunker I; Benting J; Lueke B ; et al. (2008)
Over-expression of cytochrome P450 CYP6CM1 is associated with high resistance to imidacloprid in the[...]
GP00002608
A0A6C0PTH9
Physiology
three single-nucleotide polymorphic (SNP) markers in the intron region of CYP6CM1 that discriminate between the resistant and susceptible CYP6CM1 alleles
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
CYP6CM1
Bemisia tabaci
(species)
Published - Accepted by Curator
CYP6CY3
Xenobiotic resistance (insecticide; neonicotinoid; host plant)
Cis-regulatory,
Insertion
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Bass C; Zimmer CT; Riveron JM ; et al. (2013)
Gene amplification and microsatellite polymorphism underlie a recent insect host shift.
1 Additional References
GP00001474
CYP6CY3
V5SQ25
Physiology
Expansion of a AC dinucleotide microsatellite (from 15 to 48 repeat units) in the promoter 198 bp upstream of the start codon that enhances gene expression
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
CYP6CY3
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
CYP6CY3-CYP6CY4
Xenobiotic resistance (insecticide; neonicotinoid; host plant)
Gene Amplification,
Insertion
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Bass C; Zimmer CT; Riveron JM ; et al. (2013)
Gene amplification and microsatellite polymorphism underlie a recent insect host shift.
3 Additional References
GP00001473
CYP6CY3
V5SQ25
Physiology
gene amplification (from 2 to 14-100 copies) - CYP6CY3 and neighboring gene CYP6CY4 are duplicated in M. p. nicotianae as a large amplicon of ~325 kb creating characteristic breakpoints identifying the region. CYP6CY4 and CYP6CY3 are highly effective at metabolizing nicotine to its nontoxic metabolite cotinine.
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
CYP6CY3-CYP6CY4
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
CYP6D1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Gao J; Scott JG (2006)
Role of the transcriptional repressor mdGfi-1 in CYP6D1v1-mediated insecticide resistance in the hou[...]
GP00002118
CYP6D1
Q27698
Physiology
15 bp insertion which disrupts a putative mdGfi-1 binding site in the CYP6D1v1 promoter. mdGfi-1 is a negative regulator of transcription so this leads to increased expression of CYP6D1
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
CYP6D1
Musca domestica
house fly - (species)
Published - Accepted by Curator
cyp6d2
Xenobiotic resistance (chemotherapeutic agent, camptothecin)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Thomas AM; Hui C; South A ; et al. (2013)
Common variants of Drosophila melanogaster Cyp6d2 cause camptothecin sensitivity and synergize with [...]
GP00001983
Cyp6g2
Q9V675
Physiology
G>C in CATAGgtaagga...caagCTCT so that intron 3 is not spliced and the codon GCT (spanning the intron) is transformed into CCT. The splicing is defective and intron 3 is transcribed and results in a stop codon and a protein truncated from its native C terminal part.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cyp6d2
Xenobiotic resistance (chemotherapeutic agent, camptothecin)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Thomas AM; Hui C; South A ; et al. (2013)
Common variants of Drosophila melanogaster Cyp6d2 cause camptothecin sensitivity and synergize with [...]
GP00001984
Cyp6g2
Q9V675
Physiology
N438T (A22652974C) and N439T (A22652978G) - exact causing mutation(s) not identified - semiquantitative RT-PCR revealed that this mutant produces little to no Cyp6d2 transcript. The mutation is thus also cis-regulatory.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002472
cyp6er1
A0A2I8B6P1
Physiology
T318S substitution results in a marked (20-fold) and significant increase in resistance compared to the wild-type susceptible variant.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Coding,
Deletion
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002473
cyp6er1
A0A2I8B6P1
Physiology
Deletion of Pro377. This provides a more moderate but significant 4.5-fold increase in resistance.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Coding,
Complex Change
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002474
cyp6er1
A0A2I8B6P1
Physiology
A375del+A376G
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Cis-regulatory,
Unknown
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002475
cyp6er1
A0A2I8B6P1
Physiology
A significant (up to 9.5-fold) increase in expression driven by the promoter of CYP6ER1vA was observed in comparison to all other promoter variants. This suggests that cis-acting elements in the region upstream of CYP6ER1vA are responsible for the high expression of this variant in BPH populations across Southeast Asia.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6FU1
Xenobiotic resistance (insecticide; deltamethrin)
Cis-regulatory,
Unknown
Laodelphax striatellus
small brown planthopper - (species) D
Intraspecific
Candidate Gene
Pu J; Sun H; Wang J ; et al. (2016)
Multiple cis-acting elements involved in up-regulation of a cytochrome P450 gene conferring resistan[...]
GP00002117
CYP6FU1
A0A1S5R631
Physiology
Four cis-acting elements were identified whose influence on up-regulation was much more pronounced in combination than when present singly.
Laodelphax striatellus
small brown planthopper - (species)
Laodelphax striatellus
small brown planthopper - (species) D
CYP6FU1
Laodelphax striatellus
small brown planthopper - (species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
4 Mutations:
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Chung H; Bogwitz MR; McCart C ; et al. (2007)
Cis-regulatory elements in the Accord retrotransposon result in tissue-specific expression of the Dr[...]
GP00000207
Cyp6g1
Q9V674
Physiology
4 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6g1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Schlenke TA; Begun DJ (2004)
Strong selective sweep associated with a transposon insertion in Drosophila simulans.
GP00002019
Cyp6g1
Q9V674
Physiology
insertion of a Doc transposable element around 200 bp upstream of the putative transcription start site - mutation associated with increased expression of the gene
Drosophila simulans
(species)
Drosophila simulans
(species) D
cyp6g1
Drosophila simulans
(species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Wurmser F; Mary-Huard T; Daudin JJ ; et al. (2013)
Variation of gene expression associated with colonisation of an anthropized environment: comparison [...]
GP00002020
Cyp6g1
Q9V674
Physiology
insertion of a Juan transposable element in the regulatory sequence. The insertion is almost fixed in the Rhône Valley but barely present in Mayotte - mutation associated with increased expression of the gene
Drosophila simulans
(species)
Drosophila simulans
(species) D
cyp6g1
Drosophila simulans
(species)
Published - Accepted by Curator
CYP6P9; CYP6P4 cluster
Xenobiotic resistance (insecticide)
5 Mutations:
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Wondji CS; Irving H; Morgan J ; et al. (2009)
Two duplicated P450 genes are associated with pyrethroid resistance in Anopheles funestus, a major m[...]
2 Additional References
GP00000209
Q2YH43
Physiology
5 mutations
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
CYP6P9; CYP6P4 cluster
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
CYP9A
Xenobiotic resistance (insecticide; deltamethrin)
Gene Amplification,
Insertion
Spodoptera frugiperda
fall armyworm - (species)
Intraspecific
Association Mapping
Gimenez S; Abdelgaffar H; Goff GL ; et al. (2020)
Adaptation by copy number variation increases insecticide resistance in the fall armyworm.
GP00002476
Physiology
In sensitive alleles the gene cluster is composed of 12 CYP9A genes and two alcohol dehydrogenase genes. All 30 resistant alleles have two copies of this unit while 28 and 6 alleles of the sensitive individuals had one and two copies; respectively.
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species)
CYP9A
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
CYP9A186
Xenobiotic resistance (insecticide; avermectin; emamectin benzoate; abamectin)
Coding,
SNP
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Linkage Mapping
Zuo Y; Shi Y; Zhang F ; et al. (2021)
Genome mapping coupled with CRISPR gene editing reveals a P450 gene confers avermectin resistance in[...]
GP00002393
CYP9A186
A0A8E4AAI2
Physiology
Heterologous expression and in vitro functional assays further confirm that a natural substitution (F116V) found in the substrate recognition site 1 (SRS1) of the CYP9A186 protein results in enhanced metabolism of EB and abamectin
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
CYP9A186
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
CYP9J26
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Bariami V; Jones CM; Poupardin R ; et al. (2012)
Gene amplification, ABC transporters and cytochrome P450s: unraveling the molecular basis of pyrethr[...]
GP00002606
CYP9J
Q8T4S7
Physiology
CYP9J26 gene amplified about 6–7 times
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
CYP9J26
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
CYP9M6
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Aedes aegypti
yellow fever mosquito - (species) D
Experimental Evolution
Candidate Gene
Kasai S; Komagata O; Itokawa K ; et al. (2014)
Mechanisms of pyrethroid resistance in the dengue mosquito vector, Aedes aegypti: target site insens[...]
1 Additional References
GP00002448
CYP9M6
X5ICI6
Physiology
CYP9M6 has the capability to metabolize permethrin and is over expressed in the resistant strain partially due to gene amplification. The average copy number of the CYP9M9 gene is 4.6-fold more than the standard strain based on qPCR.
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
CYP9M6
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting; famoxadone)
Coding,
SNP
Plasmopara viticola
(species) D
Intraspecific
Candidate Gene
Chen WJ; Delmotte F; Richard-Cervera S ; et al. (2007)
At least two origins of fungicide resistance in grapevine downy mildew populations.
GP00002041
UQCRFS1
P47985
Physiology
Gly143Ala G1256C
Plasmopara viticola
(species)
Plasmopara viticola
(species) D
cytochrome b
Plasmopara viticola
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting; famoxadone)
Coding,
SNP
Plasmopara viticola
(species) D
Intraspecific
Candidate Gene
Chen WJ; Delmotte F; Richard-Cervera S ; et al. (2007)
At least two origins of fungicide resistance in grapevine downy mildew populations.
GP00002042
UQCRFS1
P47985
Physiology
Gly143Ala G1256C
Plasmopara viticola
(species)
Plasmopara viticola
(species) D
cytochrome b
Plasmopara viticola
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; myxothiazol)
Coding,
SNP
Chlamydomonas reinhardtii
(species) D
Intraspecific
Candidate Gene
Bennoun P; Delosme M; Kück U (1991)
Mitochondrial genetics of Chlamydomonas reinhardtii: resistance mutations marking the cytochrome b g[...]
GP00002043
UQCRFS1
P47985
Physiology
F129L
Chlamydomonas reinhardtii
(species)
Chlamydomonas reinhardtii
(species) D
cytochrome b
Chlamydomonas reinhardtii
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
2 Mutations:
Coding
SNP
Mycena galopus
(species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002044
UQCRFS1
P47985
Physiology
2 mutations
Mycena viridimarginata
(species)
Mycena galopus
(species) D
cytochrome b
Mycena galopus
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
2 Mutations:
Coding
SNP
Strobilurus tenacellus
(species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002045
UQCRFS1
P47985
Physiology
2 mutations
Mycena viridimarginata
(species)
Strobilurus tenacellus
(species) D
cytochrome b
Strobilurus tenacellus
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
Coding,
SNP
Schizosaccharomyces pombe
fission yeast - (species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002046
UQCRFS1
P47985
Physiology
N261D
Saccharomyces cerevisiae
baker's yeast - (species)
Schizosaccharomyces pombe
fission yeast - (species) D
cytochrome b
Schizosaccharomyces pombe
fission yeast - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (insecticide ; bifenazate)
2 Mutations:
Coding
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Interspecific
Candidate Gene
Van Leeuwen T; Vanholme B; Van Pottelberge S ; et al. (2008)
Mitochondrial heteroplasmy and the evolution of insecticide resistance: non-Mendelian inheritance in[...]
GP00002599
UQCRFS1
P47985
Physiology
2 mutations
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
cytochrome b
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (insecticide ; bifenazate)
2 Mutations:
Coding
SNP
Panonychus citri
citrus red mite - (species) D
Interspecific
Candidate Gene
Van Leeuwen T; Van Nieuwenhuyse P; Vanholme B ; et al. (2011)
Parallel evolution of cytochrome b mediated bifenazate resistance in the citrus red mite Panonychus [...]
GP00002600
UQCRFS1
P47985
Physiology
2 mutations
Panonychus citri
citrus red mite - (species)
Panonychus citri
citrus red mite - (species) D
cytochrome b
Panonychus citri
citrus red mite - (species)
Published - Accepted by Curator
cytochrome c oxidase (COX7A)
Fertility
Lifespan
Locomotor activity
Coding,
Deletion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Melvin RG; Katewa SD; Ballard JW (2008)
A candidate complex approach to study functional mitochondrial DNA changes: sequence variation and q[...]
1 Additional References
GP00001980
COX7A
Q9VHS2
Physiology
Physiology
Physiology
Deletion of two amino acids (Trp85 and Val86). The deletion occurs in subunit 7A of the mitochondrial electron trans-port chain protein cytochrome c oxidase (cox7A). The nuclear encoded cox7A gene produces a protein that isimported into the mitochondrion and forms a subunit of complexIV (cytochrome c oxidase) of the electron transport chain.
Drosophila simulans
(species)
Drosophila simulans
(species) D
cytochrome c oxidase (COX7A)
Drosophila simulans
(species)
Published - Accepted by Curator
D14 (KAI2 paralog)
Seed dormancy (strigolactone responsiveness)
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species) D
Intergeneric or Higher
Candidate Gene
Conn CE; Bythell-Douglas R; Neumann D ; et al. (2015)
PLANT EVOLUTION. Convergent evolution of strigolactone perception enabled host detection in parasiti[...]
GP00000213
D14
Q10QA5
Physiology
Ligand-binding pocket tuning
Spermatophyta
(no rank)
Arabidopsis thaliana
thale cress - (species) D
D14 (KAI2 paralog)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
DCAF17
Hair Length
Unknown,
Unknown
Sus scrofa
pig - (species) D
Domesticated
Association Mapping
Ai H; Fang X; Yang B ; et al. (2015)
Adaptation and possible ancient interspecies introgression in pigs identified by whole-genome sequen[...]
GP00001570
DCAF17
I3LQF0
Physiology
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
DCAF17
Sus scrofa
pig - (species)
Published - Accepted by Curator
DDB1
Resistance to UV irradiation (sun exposure to skin)
Cis-regulatory,
Complex Change
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Crawford NG; Kelly DE; Hansen MEB ; et al. (2017)
Loci associated with skin pigmentation identified in African populations.
GP00001363
DDB1
Q16531
Morphology
most strongly associated SNPs are located in a region conserved across vertebrates flanked by TMEM138 and TMEM216 ~36 to 44 kb upstream of DDB1 and in high LD ; includes rs7948623 located 172 bp downstream of TMEM138 which shows enhancer activity in melanoma cells and interacts with the promoters of DDB1
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
DDB1
Homo sapiens
human - (species)
Published - Accepted by Curator
DEFICIENS
Fruit shape
Cis-regulatory,
Epigenetic Change
Elaeis guineensis
African oil palm - (species) D
Domesticated
Association Mapping
Ong-Abdullah M; Ordway JM; Jiang N ; et al. (2015)
Loss of Karma transposon methylation underlies the mantled somaclonal variant of oil palm.
GP00002100
AP3
P35632
Morphology
hypomethylation of the 3.2 kb oil palm Karma transposable element located within an intron of the DEFICIENS gene - this results in unmasking of a cryptic splice acceptor site and a premature termination signal and causes the mantled fruit phenotype- epigenetic derepression of a TE associated with a deleterious phenotype
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species) D
DEFICIENS
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
Delta
Bristle number (abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Langley CH ; et al. (1998)
Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in [...]
1 Additional References
GP00000216
Dl
P10041
Morphology
unknown; associated site in intron 5
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Delta
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Delta
Bristle number (thorax)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Langley CH ; et al. (1998)
Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in [...]
1 Additional References
GP00000217
Dl
P10041
Morphology
unknown; associated site in intron 2
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Delta
Drosophila melanogaster
fruit fly - (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
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
desatF
Pheromone production
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Interspecific
Candidate Gene
Legendre A; Miao XX; Da Lage JL ; et al. (2008)
Evolution of a desaturase involved in female pheromonal cuticular hydrocarbon biosynthesis and court[...]
1 Additional References
GP00000219
desatF
A7DZ97
Physiology
Enrichment/gain of DSX binding sites
Drosophila
(subgenus)
Drosophila melanogaster
fruit fly - (species)
desatF
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
desatF
Pheromone production
Cis-regulatory,
Deletion
Drosophila
(subgenus) D
Interspecific
Candidate Gene
Shirangi TR; Dufour HD; Williams TM ; et al. (2009)
Rapid evolution of sex pheromone-producing enzyme expression in Drosophila.
GP00000220
desatF
A7DZ97
Physiology
Inactivation of DSX-binding site
Drosophila takahashii
(species)
Drosophila
(subgenus) D
desatF
Drosophila
(subgenus)
Published - Accepted by Curator
desaturase 2 (desat2)
Pheromone production
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Takahashi A; Tsaur SC; Coyne JA ; et al. (2001)
The nucleotide changes governing cuticular hydrocarbon variation and their evolution in Drosophila m[...]
1 Additional References
GP00000221
Desat2
Q9VG68
Physiology
16bp deletion about 150bp upstream of transcription start site
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
desaturase 2 (desat2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
determinant of gall color (dgc)
Coloration (induced gall)
Cis-regulatory,
Unknown
Hormaphis cornu
(species)
Intraspecific
Association Mapping
Korgaonkar A; Han C; Lemire AL ; et al. (2021)
A novel family of secreted insect proteins linked to plant gall development.
GP00002392
Morphology
almost complete silencing of dgc expression in salivary glands of aphids carrying the red gall allele
Hormaphis cornu
(species)
Hormaphis cornu
(species)
determinant of gall color (dgc)
Hormaphis cornu
(species)
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 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
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
DOG1 (DELAY OF GERMINATION 1)
Seed dormancy
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Bentsink L; Jowett J; Hanhart CJ ; et al. (2006)
Cloning of DOG1, a quantitative trait locus controlling seed dormancy in Arabidopsis.
3 Additional References
GP00000231
DOG1
A0SVK0
Physiology
Not identified (possibly polyallelic as each cross to the Ler accession showed different DOG1 effects)
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
DOG1 (DELAY OF GERMINATION 1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
DOG1 (DELAY OF GERMINATION 1)
Seed dormancy
Cis-regulatory,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Kerdaffrec E; Filiault DL; Korte A ; et al. (2016)
Multiple alleles at a single locus control seed dormancy in Swedish Arabidopsis.
GP00001397
DOG1
A0SVK0
Physiology
At least 3 haplotypes defined by 4 SNPs in a putative regulatory region of DOG-1.
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
DOG1 (DELAY OF GERMINATION 1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Dopa oxidase-3 (Dox-3)
Enzymatic activity
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Asada N (1997)
Genetic variants affecting phenoloxidase activity in Drosophila melanogaster.
GP00002000
Physiology
Exact causing mutation(s) unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Dopa oxidase-3 (Dox-3)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Doublesex
Bristle number (male sex comb tooth number)
Cis-regulatory,
Complex Change
obscura group
(species group)
Interspecific
Candidate Gene
Tanaka K; Barmina O; Sanders LE ; et al. (2011)
Evolution of sex-specific traits through changes in HOX-dependent doublesex expression.
GP00000235
dsx
P23023
Morphology
Acquisition of Scr binding sites in enhancer
Sophophora
(subgenus)
obscura group
(species group)
Doublesex
obscura group
(species group)
Published - Accepted by Curator
Doublesex
Coloration (wing ; Batesian mimicry)
Unknown,
Unknown
Papilio polytes
common Mormon - (species)
Intraspecific
Linkage Mapping
Kunte K; Zhang W; Tenger-Trolander A ; et al. (2014)
doublesex is a mimicry supergene.
2 Additional References
GP00001966
dsx
P23023
Morphology
More than 1000 nucleotide substitutions differentiate mimetic and non-mimetic dsx alleles. The non-mimetic Cyrus Dsx protein folds much like other insects (such as Bombyx mori) whereas the mimetic polytes protein structure is highly divergent. Knockdown experiments show that female-specific dsx isoforms expressed from the inverted H allele (dsx(H)) induce mimetic coloration patterns and simultaneously repress non-mimetic patterns.
Papilio polytes
common Mormon - (species)
Papilio polytes
common Mormon - (species)
Doublesex
Papilio polytes
common Mormon - (species)
Published - Accepted by Curator
Doublesex
Coloration (wing ; Batesian mimicry)
Unknown,
Unknown
Papilio memnon
(species)
Intraspecific
Candidate Gene
Iijima T; Kajitani R; Komata S ; et al. (2018)
Parallel evolution of Batesian mimicry supergene in two Papilio butterflies, P. polytes and P. memno[...]
1 Additional References
GP00001967
dsx
P23023
Morphology
A locus containing three genes (dsx; Nach-like and UXT) displays dimorphic sequences strictly associated with the mimetic/nonmimetic phenotypes. Expression of dox; UXT but not Nach-like showed differences correlated with phenotype in female hind wings.
Papilio memnon
(species)
Papilio memnon
(species)
Doublesex
Papilio memnon
(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
Drosomycin-like 5
Pathogen resistance (fungi)
Gene Amplification,
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.
GP00002111
Drsl5
Q9VZR2
Physiology
Duplication of the gene and insertion of a 4993-bp region (which comes from part of a neighboring gene). Associated with a >1000-fold expression increase of the gene.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Drosomycin-like 5
Drosophila melanogaster
fruit fly - (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
Duffy
Pathogen resistance (Plasmodium; malaria parasite) (malaria)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Tournamille C; Colin Y; Cartron JP ; et al. (1995)
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-n[...]
GP00000240
ACKR1
Q16570
Physiology
T to C substitution in 5' region at pos -46
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Duffy
Homo sapiens
human - (species)
Published - Accepted by Curator
E2F1
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002400
E2f1
Q27368
Physiology
There are one deletion and three insertions in the cis-regulatory region and introns of the E2F1 gene of the improved strain. Higher expression in the improves strain. CRISPR-cas9 mediated knockout of BmE2F1 reduces the number of silk gland cells by 7.68% and silk yield by 22%.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
E2F1
Bombyx mori
domestic silkworm - (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) [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 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
EBF1
Body fat distribution (pericardial)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001554
EBF1
Q9UH73
Physiology
A>G & T>G in 2 associated SNPs
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EBF1
Homo sapiens
human - (species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
Cis-regulatory,
Unknown
Drosophila auraria
(species) D
Intraspecific
Candidate Gene
Johnson WC; Ordway AJ; Watada M ; et al. (2015)
Genetic Changes to a Transcriptional Silencer Element Confers Phenotypic Diversity within and betwee[...]
GP00000250
e
O76858
Morphology
Inactivation of a conserved silencer resulting in gain-of-expression; the increase in ebony expression in the light strain occurred primarily through mutations affecting the ebony male-specific silencer element
Drosophila auraria
(species)
Drosophila auraria
(species) D
ebony
Drosophila auraria
(species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
Cis-regulatory,
Unknown
Drosophila serrata
(species) D
Interspecific
Candidate Gene
Johnson WC; Ordway AJ; Watada M ; et al. (2015)
Genetic Changes to a Transcriptional Silencer Element Confers Phenotypic Diversity within and betwee[...]
GP00000251
e
O76858
Morphology
loss of the ebony male-specific silencer function - increased expression of ebony
Drosophila jambulina
(species)
Drosophila serrata
(species) D
ebony
Drosophila serrata
(species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Takahashi A; Takano-Shimizu T (2011)
Divergent enhancer haplotype of ebony on inversion In(3R)Payne associated with pigmentation variatio[...]
GP00000252
e
O76858
Morphology
17 nucleotide sites and 2 indels in complete association with the thoracic trident pigmentation intensity in a 13kb region
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
5 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Rebeiz M; Pool JE; Kassner VA ; et al. (2009)
Stepwise modification of a modular enhancer underlies adaptation in a Drosophila population.
GP00000253
e
O76858
Morphology
5 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Cis-regulatory,
SNP
Drosophila malerkotliana
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001544
e
O76858
Morphology
5 changes including 4 SNP and 1bp indel in the first intron
Drosophila malerkotliana
(species)
Drosophila malerkotliana
(species)
ebony
Drosophila malerkotliana
(species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Cis-regulatory,
Unknown
Drosophila pseudoananassae
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001545
e
O76858
Morphology
unknown
Drosophila pseudoananassae
(species)
Drosophila pseudoananassae
(species)
ebony
Drosophila pseudoananassae
(species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Unknown,
Unknown
Drosophila merina
(species)
Interspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001546
e
O76858
Morphology
unknown
Drosophila ercepeae
(species)
Drosophila merina
(species)
ebony
Drosophila merina
(species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Unknown,
Unknown
Drosophila bipectinata
(species)
Interspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001547
e
O76858
Morphology
unknown
Drosophila parabipectinata
(species)
Drosophila bipectinata
(species)
ebony
Drosophila bipectinata
(species)
Published - Accepted by Curator
ebony
Coloration (abdomen; male)
Cis-regulatory,
Insertion
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Liu Y; Ramos-Womack M; Han C ; et al. (2019)
Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.
GP00002024
e
O76858
Morphology
insertion of a partial 481 bp fragment related to a transposable element of the helitron class - maybe other causing mutations as well at this ebony locus (including one fixed amino acid change whose phenotypic effect has not been investigated) - increased expression associated with lighter pigmentation
Drosophila yakuba
(species)
Drosophila santomea
(species) D
ebony
Drosophila santomea
(species)
Published - Accepted by Curator
Ecdysone oxidase
Developmental time
Cis-regulatory,
Insertion
Bombyx mori
domestic silkworm - (species) D
Domesticated
Candidate Gene
Sun W; Shen YH; Han MJ ; et al. (2014)
An adaptive transposable element insertion in the regulatory region of the EO gene in the domesticat[...]
1 Additional References
GP00001102
Eo
Q9VY01
Physiology
insertion of a 512bp fragment of a Taguchi transposable element 462 bp upstream of the transcription start site of the EO gene. The TE insertion enhances the transcription of flanking genes after 20-hydroxyecdysone treatment.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Ecdysone oxidase
Bombyx mori
domestic silkworm - (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
EDN3
Coloration (hyperpigmentation)
Gene Amplification,
Complex Change
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Dorshorst B; Molin AM; Rubin CJ ; et al. (2011)
A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in [...]
3 Additional References
GP00000258
EDN3
P14138
Morphology
Large duplication
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
EDN3
Gallus gallus
chicken - (species)
Published - Accepted by Curator
edn3b
Coloration (reduced number of stripes)
Cis-regulatory,
Unknown
Danio nigrofasciatus
dwarf danio - (species)
Interspecific
Candidate Gene
Spiewak JE; Bain EJ; Liu J ; et al. (2018)
Evolution of Endothelin signaling and diversification of adult pigment pattern in Danio fishes.
GP00002124
edn3b
E9QFS0
Morphology
pigment pattern differences between these species are clearly polygenic, and it seems likely that additional loci, of the endothelin pathway or other pathways, will be identified as contributing to attenuated stripes and interstripes of D. nigrofasciatus compared to D. rerio.
Danio rerio
zebrafish - (species)
Danio nigrofasciatus
dwarf danio - (species)
edn3b
Danio nigrofasciatus
dwarf danio - (species)
Published - Accepted by Curator
EDNRA
Coloration (coat ; white-spotting)
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Association Mapping
Menzi F; Keller I; Reber I ; et al. (2016)
Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation[...]
GP00002170
Ednra
Q61614
Morphology
1 Mb copy number variant (CNV) harboring 5 genes including EDNRA ; The duplicated EDNRA copies contain a missense variant (p.Tyr129His) predicted to increase the affinity of the encoded mutant receptor for endothelin 3. Menzi et al. proposed a hypothesis whereby ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely leads to an absence of melanocytes in the non-pigmented body areas of Boer goats (thanks to OMIA for the summary)
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
EDNRA
Capra hircus
goat - (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
ENA1-2-5 cluster
Salt tolerance (experimental evolution)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species)
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
GP00000265
ENA1
P13587
Physiology
uncharacterized expansion
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
ENA1-2-5 cluster
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ENA1-2-5 cluster
Salt tolerance (experimental evolution)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000266
ENA1
P13587
Physiology
uncharacterized expansion
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ENA1-2-5 cluster
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
GP00000267
END3
P39013
Physiology
Physiology
S258N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000268
END3
P39013
Physiology
Physiology
D268N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Endothelin receptor B
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Metallinos DL; Bowling AT; Rine J (1998)
A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome:[...]
2 Additional References
GP00000269
Ednrb
P48302
Morphology
Ile118Lys
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Endothelin receptor B
Equus caballus
horse - (species)
Published - Accepted by Curator
Endothelin receptor B
Coloration (feathers ; white-spotting)
Coding,
SNP
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Miwa M; Inoue-Murayama M; Aoki H ; et al. (2007)
Endothelin receptor B2 (EDNRB2) is associated with the panda plumage colour mutation in Japanese qua[...]
GP00000270
Ednrb
P48302
Morphology
c.995G>A p.R332H
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Endothelin receptor B
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kinoshita K; Akiyama T; Mizutani M ; et al. (2014)
Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]
GP00001360
EDNRB2
W8VUK4
Morphology
c.1008G>T p.Cys244Phe
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Endothelin receptor B2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kinoshita K; Akiyama T; Mizutani M ; et al. (2014)
Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]
GP00001361
EDNRB2
W8VUK4
Morphology
c.G1272A p.Arg332His
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Endothelin receptor B2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers ; white-spotting)
Coding,
SNP
Anas platyrhynchos
mallard - (species) D
Domesticated
Candidate Gene
Li L; Li D; Liu L ; et al. (2015)
Endothelin Receptor B2 (EDNRB2) Gene Is Associated with Spot Plumage Pattern in Domestic Ducks (Anas[...]
GP00002378
EDNRB2
W8VUK4
Morphology
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
Endothelin receptor B2
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers ; white-spotting)
Cis-regulatory,
Unknown
Anas platyrhynchos
mallard - (species) D
Domesticated
Association Mapping
Xi Y; Xu Q; Huang Q ; et al. (2021)
Genome-wide association analysis reveals that EDNRB2 causes a dose-dependent loss of pigmentation in[...]
GP00002383
EDNRB2
W8VUK4
Morphology
"The GWAS results identified a 198 kb (Chr4: 10,149,651 bp to 10,348,068 bp) genetic region that was significantly associated with the black spot phenotype. The conditional GWAS and linkage disequilibrium (LD) analysis further narrowed the ultimate candidate region to 167 kb (Chr4: 10,180,939 bp to 10,348,068 bp). A key gene regulating melanoblast migration and differentiation, EDNRB2 (Endothelin B receptor-like), was found in the candidate region and having significant mRNA expression level changes in embryonic duck skin tissue with different spot sizes. The significant SNPs (single nucleotide polymorphisms) associated with the EDNRB2 gene were annotated, and two mutations (Chr4: 10,180,939 T > C and Chr4: 10,190,671 A > T) were found to result in the loss of binding sites for two trans-factors, XBP1 and cMYB. The phenotypic effect of these two mutations suggested that they can regulate the size of black spots in a dose-dependent manner, and Chr4: 10,180,939 T > C was the major allele locus."
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
Endothelin receptor B2
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
engrailed
Coloration (wing ; Batesian mimicry)
Cis-regulatory,
Unknown
Papilio dardanus
African swallowtail butterfly - (species) D
Intraspecific
Linkage Mapping
Timmermans MJTN; Srivathsan A; Collins S ; et al. (2020)
Mimicry diversification in Papilio dardanus via a genomic inversion in the regulatory region of engr[...]
GP00002428
en
P02836
Morphology
Association with many nucleotide changes in a cis-regulatory region of engrailed. The diverged region exhibits a discrete chromosomal inversion of 40 kb relative to the ancestral orientation that is associated with the cenea morph, but not with the bottom-recessive hippocoonides morph or with non-mimetic allopatric populations.
Papilio dardanus
African swallowtail butterfly - (species)
Papilio dardanus
African swallowtail butterfly - (species) D
engrailed
Papilio dardanus
African swallowtail butterfly - (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
ENSA
Body fat distribution (pericardial)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001558
ENSA
O43768
Physiology
A>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ENSA
Homo sapiens
human - (species)
Published - Accepted by Curator
EOMES (eomesodermin)
Bird head comb (reduced)
Gene Amplification,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Dorshorst B; Harun-Or-Rashid M; Bagherpoor AJ ; et al. (2015)
A genomic duplication is associated with ectopic eomesodermin expression in the embryonic chicken co[...]
GP00000271
Eomes
O54839
Morphology
a 20 Kb tandem duplication containing several conserved putative regulatory elements located 200 Kb upstream of the eomesodermin gene
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
EOMES (eomesodermin)
Gallus gallus
chicken - (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
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus palmeri
(species) D
Intraspecific
Candidate Gene
Gaines TA; Zhang W; Wang D ; et al. (2010)
Gene amplification confers glyphosate resistance in Amaranthus palmeri.
GP00001883
At2g45300
P05466
Physiology
Genomes of resistant plants contain from 5-fold to more than 160-fold more copies of the EPSPS gene than did genomes of susceptible plants - the duplicated section of DNA including the 10 kb EPSPS gene is at least 30 kb long
Amaranthus palmeri
(species)
Amaranthus palmeri
(species) D
EPSPS
Amaranthus palmeri
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus tuberculatus
(species) D
Intraspecific
Candidate Gene
Tranel PJ; Riggins CW; Bell MS ; et al. (2011)
Herbicide resistances in Amaranthus tuberculatus: a call for new options.
GP00001884
At2g45300
P05466
Physiology
4 copies of the EPSPS gene
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
EPSPS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Salas RA; Dayan FE; Pan Z ; et al. (2012)
EPSPS gene amplification in glyphosate-resistant Italian ryegrass (Lolium perenne ssp. multiflorum) [...]
GP00001885
At2g45300
P05466
Physiology
15-25 copies of the EPSPS gene
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)
Gene Amplification,
Insertion
Bassia scoparia
(species) D
Intraspecific
Candidate Gene
Sammons RD; Gaines TA (2014)
Glyphosate resistance: state of knowledge.
GP00001886
At2g45300
P05466
Physiology
15-25 copies of the EPSPS gene
Bassia scoparia
(species)
Bassia scoparia
(species) D
EPSPS
Bassia scoparia
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus spinosus
(species) D
Intraspecific
Candidate Gene
Sammons RD; Gaines TA (2014)
Glyphosate resistance: state of knowledge.
GP00001887
At2g45300
P05466
Physiology
26-37 copies of the EPSPS gene
Amaranthus spinosus
(species)
Amaranthus spinosus
(species) D
EPSPS
Amaranthus spinosus
(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
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
ESR1
Aggression behavior
Cis-regulatory,
Unknown
Zonotrichia albicollis
white-throated sparrow - (species) D
Intraspecific
Linkage Mapping
Merritt JR; Grogan KE; Zinzow-Kramer WM ; et al. (2020)
A supergene-linked estrogen receptor drives alternative phenotypes in a polymorphic songbird.
GP00002440
Esr1
P19785
Behavior
Increase in expression of the gene in the white-striped morph. Differential allelic expression in heterozygotes.
Zonotrichia albicollis
white-throated sparrow - (species)
Zonotrichia albicollis
white-throated sparrow - (species) D
ESR1
Zonotrichia albicollis
white-throated sparrow - (species)
Published - Accepted by Curator
esterase A8 and B8
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Qiao CL; Marquine M; Pasteur N ; et al. (1998)
A new esterase gene amplification involved in OP resistance in Culex pipiens mosquitoes from China.
GP00002641
B1
P16854
Physiology
coamplification of both esterase loci (Est-2 and Est-3)
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
esterase A8 and B8
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
esterase B1
Xenobiotic resistance (insecticide; benzoylurea)
Gene Amplification,
Complex Change
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Karunaratne SH; Vaughan A; Paton MG ; et al. (1998)
Amplification of a serine esterase gene is involved in insecticide resistance in Sri Lankan Culex tr[...]
GP00000290
B1
P16854
Physiology
Whole gene amplification
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
esterase B1
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
esterase B1 + esterase A
Xenobiotic resistance (insecticide)
Gene Amplification,
Complex Change
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Rooker S; Guillemaud T; Bergé J ; et al. (1996)
Coamplification of esterase A and B genes as a single unit in Culex pipiens mosquitoes.
GP00000291
B1
P16854
Physiology
Amplification of a region containing both genes
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
esterase B1 + esterase A
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
esterase B1 = esterase beta1
Xenobiotic resistance (insecticide)
Gene Amplification,
Complex Change
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Mouchès C; Pasteur N; Bergé JB ; et al. (1986)
Amplification of an esterase gene is responsible for insecticide resistance in a California Culex mo[...]
3 Additional References
GP00000292
B1
P16854
Physiology
Amplification of esterase B1 only
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
esterase B1 = esterase beta1
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
esterase B4
Xenobiotic resistance (insecticide; chlorpyrifos)
Gene Amplification,
Insertion
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Poirié M; Raymond M; Pasteur N (1992)
Identification of two distinct amplifications of the esterase B locus in Culex pipiens (L.) mosquito[...]
GP00002639
B1
P16854
Physiology
The production of the esterase B is approximately 50- and 500-fold higher in mosquitoes from France and Cyprus (respectively) than in susceptible insects whereas the number of gene copies is about 25 and 250. Differences of about 7- and 95-fold were also found in the degree of chlorpyrifos resistance.
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
esterase B4
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
esterase B5
Xenobiotic resistance (insecticide; chlorpyrifos)
Gene Amplification,
Insertion
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Poirié M; Raymond M; Pasteur N (1992)
Identification of two distinct amplifications of the esterase B locus in Culex pipiens (L.) mosquito[...]
GP00002640
B1
P16854
Physiology
The production of the esterase B is approximately 50- and 500-fold higher in mosquitoes from France and Cyprus (respectively) than in susceptible insects whereas the number of gene copies is about 25 and 250. Differences of about 7- and 95-fold were also found in the degree of chlorpyrifos resistance.
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
esterase B5
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
esterase E4
Xenobiotic resistance (insecticide)
Gene Amplification,
Complex Change
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Field LM; Devonshire AL; Forde BG (1988)
Molecular evidence that insecticide resistance in peach-potato aphids (Myzus persicae Sulz.) results[...]
2 Additional References
GP00000293
P35501
Physiology
Whole gene amplification. Amplification of the E4 gene is closely linked to a chromosomal translocation (the autosomal 1-3 translocation event) and amplified genes are situated at a single heterozygous site on autosome 3 as a tandem array of head-to-tail amplicons.
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
esterase E4
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
esterase FE4
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Blackman RL; Spence JM; Field LM ; et al. (1999
)
Variation in the chromosomal distribution of amplified esterase (FE4) genes in Greek field populatio[...]
2 Additional References
GP00002642
P35502
Physiology
Gene amplification
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
esterase FE4
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Newcomb RD; Campbell PM; Ollis DL ; et al. (1997)
A single amino acid substitution converts a carboxylesterase to an organophosphorus hydrolase and co[...]
GP00000294
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Jackson CJ; Liu JW; Carr PD ; et al. (2013)
Structure and function of an insect α-carboxylesterase (αEsterase7) associated with insecticide resi[...]
GP00000295
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species)
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000296
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species)
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000297
LcaE7
Q25252
Physiology
Trp251Ser
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000298
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Cochliomyia hominivorax
primary screw-worm - (species) D
Intraspecific
Candidate Gene
da Silva NM; de Carvalho RA; de Azeredo-Espin AM (2011)
Acetylcholinesterase cDNA sequencing and identification of mutations associated with organophosphate[...]
2 Additional References
GP00002584
alphaE7
A0A0G3Z837
Physiology
G137D
Cochliomyia hominivorax
primary screw-worm - (species)
Cochliomyia hominivorax
primary screw-worm - (species) D
esterase isozyme E3
Cochliomyia hominivorax
primary screw-worm - (species)
Published - Accepted by Curator
esterase isozyme E7 = E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Claudianos C; Russell RJ; Oakeshott JG (1999)
The same amino acid substitution in orthologous esterases confers organophosphate resistance on the [...]
GP00000299
LcaE7
Q25252
Physiology
Gly137Asp
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
esterase isozyme E7 = E3
Musca domestica
house fly - (species)
Published - Accepted by Curator
esterase NI-EST1
Xenobiotic resistance (organophosphorus insecticides)
Gene Amplification,
Insertion
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Small GJ; Hemingway J (2000)
Molecular characterization of the amplified carboxylesterase gene associated with organophosphorus i[...]
GP00002638
Ces1
Q8VCC2
Physiology
Southern analysis of genomic DNA from the Sri Lankan OP-resistant and susceptible strains suggests that the Nl-EST1 esterase gene is amplified in the resistant strain
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
esterase NI-EST1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
esterase type I
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Schizaphis graminum
greenbug - (species) D
Intraspecific
Candidate Gene
Ono M; Swanson JJ; Field LM ; et al. (1999)
Amplification and methylation of an esterase gene associated with insecticide-resistance in greenbug[...]
1 Additional References
GP00002637
P35501
Physiology
The type I esterase is amplified 4- to 8-fold in resistant S. graminum and that the amplified sequences contain 5-methylcytosine at MspI/HpaII sites.
Schizaphis graminum
greenbug - (species)
Schizaphis graminum
greenbug - (species) D
esterase type I
Schizaphis graminum
greenbug - (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
eve
Developmental time
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Palsson A; Wesolowska N; Reynisdóttir S ; et al. (2014)
Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer.
GP00001986
eve
P06602
Physiology
72bp deletion that removes one of the hb protein-binding sites in the stripe 3+7 enhancer of eve. The deletion also removes half of a putative slp1 protein-binding site.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
eve
Drosophila melanogaster
fruit fly - (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
Fads2
Fatty acid metabolism (fatty acid desaturation)
Gene Amplification,
Insertion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Interspecific
Linkage Mapping
Ishikawa A; Kabeya N; Ikeya K ; et al. (2019)
A key metabolic gene for recurrent freshwater colonization and radiation in fishes.
GP00001959
fads2
Q9DEX7
Physiology
Fads2 locus is duplicated in G. aculeatus increasing DHA intake and the propensity to invade of freshwater environments. The ancestral copy is on linkage group 19 and the derived copy is on linkage group 12.
Gasterosteus nipponicus
(species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
Fads2
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Fads2
Fatty acid metabolism (fatty acid desaturation)
Gene Amplification,
Insertion
Pungitius tymensis
Sakhalin sticlkeback - (species) D
Pungitius kaibarae
(species) D
Interspecific
Candidate Gene
Ishikawa A; Kabeya N; Ikeya K ; et al. (2019)
A key metabolic gene for recurrent freshwater colonization and radiation in fishes.
GP00002053
fads2
Q9DEX7
Physiology
higher number of copies of Fads2.
Pungitius pungitius
ninespine stickleback - (species)
Pungitius tymensis
Sakhalin sticlkeback - (species) D
Pungitius kaibarae
(species) D
Fads2
Pungitius tymensis
Sakhalin sticlkeback - (species)
Pungitius kaibarae
(species)
Published - Accepted by Curator
FaO-methyl-transferase (FaOMT)
Fragrance (flavor)
Cis-regulatory,
Unknown
Fragaria x ananassa
strawberry - (species)
Domesticated
Linkage Mapping
Zorrilla-Fontanesi Y; Rambla JL; Cabeza A ; et al. (2012)
Genetic analysis of strawberry fruit aroma and identification of O-methyltransferase FaOMT as the lo[...]
GP00000303
omt1
Q9M602
Physiology
Promoter variation _ there are several single nucleotide polymorphisms (SNPs); insertion/deletions (indels); and rearrangements in the promoter
Fragaria x ananassa
strawberry - (species)
Fragaria x ananassa
strawberry - (species)
FaO-methyl-transferase (FaOMT)
Fragaria x ananassa
strawberry - (species)
Published - Accepted by Curator
FAR (pheromone gland FAR)
Pheromone production (isomeric/chirality divergence)
Coding,
Unknown
Ostrinia nubilalis
European corn borer - (species)
Intraspecific
Linkage Mapping
Lassance JM; Groot AT; Liénard MA ; et al. (2010)
Allelic variation in a fatty-acyl reductase gene causes divergence in moth sex pheromones.
2 Additional References
GP00000304
pgFAR
D3U9W3
Physiology
Candidate a.a. substitutions with effect validated in vitro
Ostrinia nubilalis
European corn borer - (species)
Ostrinia nubilalis
European corn borer - (species)
FAR (pheromone gland FAR)
Ostrinia nubilalis
European corn borer - (species)
Published - Accepted by Curator
Fas2
Pupation site choice
Unknown,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Pischedda A; Shahandeh MP; Turner TL (2020)
The Loci of Behavioral Evolution: Evidence That Fas2 and tilB Underlie Differences in Pupation Site [...]
GP00002345
Fas2
P34082
Behavior
Gene identified via deficiency mapping. RNAi in D. melanogaster leads to pupae pupating closer to the food.
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Fas2
Drosophila simulans
(species)
Published - Accepted by Curator
fasciated
Fruit size
Fruit architecture
Cis-regulatory,
Unknown
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Cong B; Barrero LS; Tanksley SD (2008)
Regulatory change in YABBY-like transcription factor led to evolution of extreme fruit size during t[...]
GP00000305
fasciated
B2YHV8
Morphology
Morphology
Possibly 7-bp and 6- to 8-kb insertion in the first intron
Solanum pennellii
(species)
Solanum lycopersicum
tomato - (species)
fasciated
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
fatty acid synthase
Dessication tolerance
Pheromone production (mbCHC)
Cis-regulatory,
Unknown
Drosophila birchii
(species)
Interspecific
Candidate Gene
Chung H; Loehlin DW; Dufour HD ; et al. (2014)
A single gene affects both ecological divergence and mate choice in Drosophila.
GP00002063
FASN3
Q7PLB8
Physiology
Physiology
No expression of the gene in D. birchii. The coding region of the D. birchii gene is intact. Cis-regulatory region tested in reporter assays in D. melanogaster - exact causing mutation(s) unknown. RNAi against mFAS/CG17354 in D. serrata recapitylates the D. birchii phenotype.
Drosophila serrata
(species)
Drosophila birchii
(species)
fatty acid synthase
Drosophila birchii
(species)
Published - Accepted by Curator
fatty acyl-CoA reductase FAR2-B
Pheromone production (cuticular hydrocarbons)
Unknown,
Unknown
Drosophila serrata
(species)
Intraspecific
Linkage Mapping
Rusuwa BB; Chung H; Allen SL ; et al. (2022)
Natural variation at a single gene generates sexual antagonism across fitness components in Drosophi[...]
GP00002395
Dmel\CG17560
Q9VES6
Physiology
Both alleles of DsFAR2-B appear to be functional. The distinction between the two alleles iss a large number of non-synonymous substitutions.
Drosophila serrata
(species)
Drosophila serrata
(species)
fatty acyl-CoA reductase FAR2-B
Drosophila serrata
(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
Fezf2
Cerebral cortex layered organization
Cis-regulatory,
Complex Change
Mammalia
mammals - (class) D
Intergeneric or Higher
Candidate Gene
Shim S; Kwan KY; Li M ; et al. (2012)
Cis-regulatory control of corticospinal system development and evolution.
GP00000307
Fezf2
Q9ESP5
Morphology
Acquisition of SOX binding sites in enhancer E4
Amniota
amniotes - (no rank)
Mammalia
mammals - (class) D
Fezf2
Mammalia
mammals - (class)
Published - Accepted by Curator
FGF3; FGF4; FGF19; ORAOV1
Coloration (coat; dog Ridgeback phenotype)
Gene Amplification,
Complex Change
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Linkage Mapping
Salmon Hillbertz NH; Isaksson M; Karlsson EK ; et al. (2007)
Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in[...]
GP00000308
FGF4
J9P3I7
Morphology
Gene duplication
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF3; FGF4; FGF19; ORAOV1
Canis lupus familiaris
dog - (subspecies)
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
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
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Housley DJ; Venta PJ (2006)
The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability.
GP00002443
Fgf5
P15656
Morphology
Presence of a duplication in a relatively non-conserved region of the gene and a missense mutation resulting in the substitution of Phe for Cys in a highly conserved region. Genotyping of 218 dogs from three breeds fixed for long hair; eight breeds fixed for short hair and five breeds in which long hair is segregating provided evidence that the missense mutation is associated with the hair-length differences among these breeds.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Fgfr1a1
Scales (loss)
Coding,
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
Fidgetin-like1 (Fignl1)
Testis size (testis weight ; spermatogenesis)
Unknown,
Unknown
Mus musculus
house mouse - (species)
Interspecific
Linkage Mapping
L'Hôte D; Vatin M; Auer J ; et al. (2011)
Fidgetin-like1 is a strong candidate for a dynamic impairment of male meiosis leading to reduced tes[...]
GP00001668
Fignl1
Q8BPY9
Physiology
Several non-synonymous SNPs and an alternative splicing encoding a truncated isoform that may act as a competitor of the full length protein in the degradation process
Mus spretus
western wild mouse - (species)
Mus musculus
house mouse - (species)
Fidgetin-like1 (Fignl1)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Fkh
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xia Q; Guo Y; Zhang Z ; et al. (2009)
Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).
GP00002411
fkh
P14734
Physiology
Increased expression in high yield strains. The Fkh gene encodes a transcription factor that activates glue genes together with Sage in salivary glands of Drosophila melanogaster.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Fkh
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Flavonoid 3'-5'-hydroxylase (F3'5'H)
Plant secondary metabolite (catechin)
Unknown,
Unknown
Camellia sinensis
(species)
Intraspecific
Linkage Mapping
Jin JQ; Ma JQ; Yao MZ ; et al. (2017)
Functional natural allelic variants of flavonoid 3',5'-hydroxylase gene governing catechin traits in[...]
GP00001620
F3'5'H1
A3KLR7
Physiology
several candidate SNPs
Camellia sinensis
(species)
Camellia sinensis
(species)
Flavonoid 3'-5'-hydroxylase (F3'5'H)
Camellia sinensis
(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)
Cis-regulatory,
Insertion
Glycine max
soybean - (species) D
Domesticated
Candidate Gene
Zabala G; Vodkin LO (2005)
The wp mutation of Glycine max carries a gene-fragment-rich transposon of the CACTA superfamily.
GP00000318
CYP75B1
Q9SD85
Morphology
Transposon insertion in intron 2
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
flavonoid 3'-hydroxylase (F3'H)
Glycine max
soybean - (species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
SNP
Glycine soja
(species)
Intraspecific
Linkage Mapping
Takahashi R; Dubouzet JG; Matsumura H ; et al. (2010)
A new allele of flower color gene W1 encoding flavonoid 3'5'-hydroxylase is responsible for light pu[...]
GP00000323
CYP75A2
P37120
Morphology
V210M (uncertain); no expression level differences detected
Glycine soja
(species)
Glycine soja
(species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
SNP
Pisum sativum
pea - (species)
Domesticated
Candidate Gene
Moreau C; Ambrose MJ; Turner L ; et al. (2012)
The B gene of pea encodes a defective flavonoid 3',5'-hydroxylase, and confers pink flower color.
GP00000326
CYP75A2
P37120
Morphology
G111E
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Pisum sativum
pea - (species)
Published - Accepted by Curator
FLC (=Pep1)
Flowering time
Gene Amplification,
Indel
Arabis alpina
gray rockcress - (species)
Intraspecific
Candidate Gene
Albani MC; Castaings L; Wötzel S ; et al. (2012)
PEP1 of Arabis alpina is encoded by two overlapping genes that contribute to natural genetic variati[...]
GP00000329
FLC
Q9S7Q7
Physiology
complex structural variations
Arabis alpina
gray rockcress - (species)
Arabis alpina
gray rockcress - (species)
FLC (=Pep1)
Arabis alpina
gray rockcress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
2 Mutations:
Cis-regulatory
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Coustham V; Li P; Strange A ; et al. (2012)
Quantitative modulation of polycomb silencing underlies natural variation in vernalization.
1 Additional References
GP00000331
FLC
Q9S7Q7
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Insertion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Michaels SD; He Y; Scortecci KC ; et al. (2003)
Attenuation of FLOWERING LOCUS C activity as a mechanism for the evolution of summer-annual flowerin[...]
3 Additional References
GP00000332
FLC
Q9S7Q7
Physiology
TE insertion in intron 1; a region required for normal FLC regulation. The transposable element renders FLC-Ler subject to repressive chromatin modifications mediated by short interfering RNAs generated from homologous transposable elements in the genome.
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000335
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Sánchez-Bermejo E; Méndez-Vigo B; Picó FX ; et al. (2012)
Novel natural alleles at FLC and LVR loci account for enhanced vernalization responses in Arabidopsi[...]
1 Additional References
GP00000336
FLC
Q9S7Q7
Physiology
50bp deletion in 5'UTR
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Capsella rubella
(species)
Intraspecific
Linkage Mapping
Guo YL; Todesco M; Hagmann J ; et al. (2012)
Independent FLC mutations as causes of flowering-time variation in Arabidopsis thaliana and Capsella[...]
GP00000337
FLC
Q9S7Q7
Physiology
Splice site mutation introducing frameshift; removing the last 35 of 198 amino acids
Capsella rubella
(species)
Capsella rubella
(species)
FLC (Flowering Locus C)
Capsella rubella
(species)
Published - Accepted by Curator
FLC-1
Flowering time
Coding,
SNP
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Yuan YX; Wu J; Sun RF ; et al. (2009)
A naturally occurring splicing site mutation in the Brassica rapa FLC1 gene is associated with varia[...]
GP00000338
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
FLC-1
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
FLO1
Cell separation
Other,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Candidate Gene
Smukalla S; Caldara M; Pochet N ; et al. (2008)
FLO1 is a variable green beard gene that drives biofilm-like cooperation in budding yeast.
1 Additional References
GP00000342
FLO1
P32768
Physiology
both coding and non-coding divergence ; polyQ variation
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
FLO1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Flowering locus T (=HvFT=VRN3)
Flowering time
Cis-regulatory,
Unknown
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Yan L; Fu D; Li C ; et al. (2006)
The wheat and barley vernalization gene VRN3 is an orthologue of FT.
GP00000343
FT
Q9SXZ2
Physiology
Regulatory variation in first intron
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Flowering locus T (=HvFT=VRN3)
Hordeum vulgare
(species)
Published - Accepted by Curator
Flowering locus T (=TaFT=VRN3)
Flowering time
Cis-regulatory,
Insertion
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Yan L; Fu D; Li C ; et al. (2006)
The wheat and barley vernalization gene VRN3 is an orthologue of FT.
GP00000344
FT
Q9SXZ2
Physiology
Retrotranspostion in promoter region
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
Flowering locus T (=TaFT=VRN3)
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
FMN1
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001662
FMN1
Q68DA7
Physiology
On chromosome 10. Associated SNP located upstream of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
FMN1
Bos taurus
cattle - (species)
Published - Accepted by Curator
FMO1
Xenobiotic resistance
Host plant specialization
Gene Amplification,
Complex Change
Tyria jacobaeae
cinnabar moth - (species)
Intergeneric or Higher
Candidate Gene
Sehlmeyer S; Wang L; Langel D ; et al. (2010)
Flavin-dependent monooxygenases as a detoxification mechanism in insects: new insights from the arct[...]
GP00000348
Fmo-1
Q9W1E9
Physiology
Physiology
Gene duplication
Lepidoptera
butterflies and moths - (order)
Tyria jacobaeae
cinnabar moth - (species)
FMO1
Tyria jacobaeae
cinnabar moth - (species)
Published - Accepted by Curator
FMO2
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Mallott M; Hamm S; Troczka BJ ; et al. (2019)
A flavin-dependent monooxgenase confers resistance to chlorantraniliprole in the diamondback moth, P[...]
GP00002065
FMO2
Q99518
Physiology
a putatative transposon (233bp) insertion in the HAW promoter sequence just 140 bp upstream of the start codon of PxFMO2 which was absent in the ROTH promoter, the boundaries of all copies of this element were found to be defined by 34 bp imperfect terminal inverted repeats, increase the expression of the gene PxFMO2 downstream
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
FMO2
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
fog-2
Fertility (self-fertility; hermaphrodite spermatogenesis)
Gene Amplification,
Complex Change
Caenorhabditis elegans
(species)
Interspecific
Candidate Gene
Nayak S; Goree J; Schedl T (2005)
fog-2 and the evolution of self-fertile hermaphroditism in Caenorhabditis.
GP00000349
fog-2
Q2YS43
Physiology
Gene birth by duplication of an ancestral gene ; FOG-2 binds the translational regulator GLD-1 and promotes spermatogenesis ; see also tra-2 entry and associated references
Caenorhabditis briggsae
(species)
Caenorhabditis elegans
(species)
fog-2
Caenorhabditis elegans
(species)
Published - Accepted by Curator
follistatin
Limb morphology (wing dimorphism)
Flight behavior (wing dimorphism)
Gene Amplification,
Insertion
Acyrthosiphon pisum
pea aphid - (species) D
Intraspecific
Linkage Mapping
Li B; Bickel RD; Parker BJ ; et al. (2020)
A large genomic insertion containing a duplicated follistatin gene is linked to the pea aphid male w[...]
GP00002138
Fs
Q86NV3
Morphology
Behavior
the api allele from winged males is a 120kb insertion that includes a copy of the follistatin gene
Acyrthosiphon pisum
pea aphid - (species)
Acyrthosiphon pisum
pea aphid - (species) D
follistatin
Acyrthosiphon pisum
pea aphid - (species)
Published - Accepted by Curator
February 9, 2021 22:00
foraging
Food-search behavior
Cis-regulatory,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Osborne KA; Robichon A; Burgess E ; et al. (1997)
Natural behavior polymorphism due to a cGMP-dependent protein kinase of Drosophila.
2 Additional References
GP00000350
for
Q03043
Behavior
The fors (sitter) and forR (rover) alleles differ in a SNP that lies within a predicted Mad protein-binding site in a region upstream of the pr4 transcription start site. The SNP is a C in fors and an A in forR (the latter is predicted to reduce Mad protein binding).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
foraging
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
foraging
Food-search behavior
Unknown,
Unknown
Sesamia nonagrioides
Mediterranean corn borer - (species)
Intraspecific
Candidate Gene
Chardonnet F; Capdevielle-Dulac C; Chouquet B ; et al. (2014)
Food searching behaviour of a Lepidoptera pest species is modulated by the foraging gene polymorphis[...]
GP00002619
for
Q03043
Behavior
Association between a coding SNP in foraging gene and foraging activity. But not clear whether the causal mutation is this one.
Sesamia nonagrioides
Mediterranean corn borer - (species)
Sesamia nonagrioides
Mediterranean corn borer - (species)
foraging
Sesamia nonagrioides
Mediterranean corn borer - (species)
Published - Accepted by Curator
FOXL2
Horns absence
Somatic sex change
Cis-regulatory,
Deletion
Capra hircus
goat - (species) D
Domesticated
Linkage Mapping
Pailhoux E; Vigier B; Chaffaux S ; et al. (2001)
A 11.7-kb deletion triggers intersexuality and polledness in goats.
2 Additional References
GP00000352
FOXL2
Q8MIP2
Morphology
Physiology
11.7 kbp deletion of mainly repetitive sequences ; Alters transcription of two flanking genes; but FOXL2 in particular is proposed as the main determinant of the phenotype
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
FOXL2
Capra hircus
goat - (species)
Published - Accepted by Curator
foxo
Body size (wing)
Starvation resistance
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Betancourt NJ; Rajpurohit S; Durmaz E ; et al. (2021)
Allelic polymorphism at foxo contributes to local adaptation in Drosophila melanogaster.
1 Additional References
GP00002661
foxo
Q95V55
Morphology
Morphology; Physiology
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
foxo
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
FoxP2
Gene expression change (transcriptional targets)
Coding,
SNP
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Konopka G; Bomar JM; Winden K ; et al. (2009)
Human-specific transcriptional regulation of CNS development genes by FOXP2.
1 Additional References
GP00000353
FOXP2
O15409
Behavior
2 aa changes (T303N and N325S) resulting in changes of the regulated transcriptional targets in a human neuron cell line. Speculatively; these changes could be associated with language skills but these connections with null-mutant phenotypes are dubious - whether one or both mutations are required is unknown
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
FoxP2
Homo sapiens
human - (species)
Published - Accepted by Curator
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Metal tolerance
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Pineau C; Loubet S; Lefoulon C ; et al. (2012)
Natural variation at the FRD3 MATE transporter locus reveals cross-talk between Fe homeostasis and Z[...]
GP00000355
DTX43
Q9SFB0
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000367
FRI
P0DH90
Physiology
deletion of 6 amino acids; LQLDKE422-427*
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000368
FRI
P0DH90
Physiology
deletion aa 1-12
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Water use efficiency
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Lovell JT; Juenger TE; Michaels SD ; et al. (2013)
Pleiotropy of FRIGIDA enhances the potential for multivariate adaptation.
GP00000375
FRI
P0DH90
Physiology
Physiology
376 bp deletion within the promoter of the TSU-1 FRI allele
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida like 2 (FRL2)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Schläppi MR (2006)
FRIGIDA LIKE 2 is a functional allele in Landsberg erecta and compensates for a nonsense allele of F[...]
GP00000377
FRL2
Q9C6S2
Physiology
A132P and/or L401Q
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida like 2 (FRL2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FRIZZLED8
Neocortex development
Cis-regulatory,
Unknown
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Boyd JL; Skove SL; Rouanet JP ; et al. (2015)
Human-chimpanzee differences in a FZD8 enhancer alter cell-cycle dynamics in the developing neocorte[...]
GP00001443
FZD8
Q9H461
Morphology
10 mutations fixed on the human branch in the Hs-HARE5 genomic locus resulting in enhancer activity in developing neocortex
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
FRIZZLED8
Homo sapiens
human - (species)
Published - Accepted by Curator
FRM2
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001311
FRM2
P37261
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
FRM2
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
FST/MOCS2
coloration (head feathers)
Cis-regulatory,
Unknown
Erythrura gouldiae
Gouldian finch - (species)
Intraspecific
Association Mapping
Toomey MB; Marques CI; Andrade P ; et al. (2018)
A non-coding region near Follistatin controls head colour polymorphism in the Gouldian finch.
1 Additional References
GP00002125
Morphology
candidate locus is a small (approx. 70 kb) non-coding region mapping to the Z chromosome near the FST and MOCS2
Erythrura gouldiae
Gouldian finch - (species)
Erythrura gouldiae
Gouldian finch - (species)
FST/MOCS2
Erythrura gouldiae
Gouldian finch - (species)
Published - Accepted by Curator
FTO
Body size (weight; variance)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Frayling TM; Timpson NJ; Weedon MN ; et al. (2007)
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and[...]
4 Additional References
GP00000378
FTO
Q9C0B1
Morphology; Physiology
rs1421085 T-to-C single-nucleotide variant disrupts a conserved motif for the ARID5B repressor
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FTO
Homo sapiens
human - (species)
Published - Accepted by Curator
FTO
Body fat distribution (subcutaneous)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001560
FTO
Q9C0B1
Physiology
A>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FTO
Homo sapiens
human - (species)
Published - Accepted by Curator
FUMARASE 2
Plant metabolism (fumarate/malate ratio)
Plant growth (bio-mass production)
Cis-regulatory,
Indel
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Riewe D; Jeon HJ; Lisec J ; et al. (2016)
A naturally occurring promoter polymorphism of the Arabidopsis FUM2 gene causes expression variation[...]
1 Additional References
GP00001286
FUM2
Q9FI53
Physiology
Physiology
2068 bp in promotor region @position -395. AND 3833bp in promotor region @position -1107
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FUMARASE 2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000382
FUT2
Q10981
Physiology
Ile129Phe
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
GADD45G
Brain development
Cis-regulatory,
Deletion
Pan troglodytes
chimpanzee - (species) D
Interspecific
Association Mapping
McLean CY; Reno PL; Pollen AA ; et al. (2011)
Human-specific loss of regulatory DNA and the evolution of human-specific traits.
GP00000384
GADD45G
O95257
Morphology
Enhancer loss
Homo sapiens
human - (species)
Pan troglodytes
chimpanzee - (species) D
GADD45G
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
GAL1
Carbohydrate metabolism (galactose)
Cis-regulatory,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species)
Intergeneric or Higher
Candidate Gene
Hittinger CT; Carroll SB (2007)
Gene duplication and the adaptive evolution of a classic genetic switch.
GP00000385
GAL1
P09608
Physiology
Helical phasing of GAL4 elements in promoter region following duplication
Kluyveromyces lactis
(species)
Saccharomyces cerevisiae
baker's yeast - (species)
GAL1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GATA-binding protein 2 (GATA2)
Hematopoiesis (blood basophil count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001610
GATA2
P23769
Physiology
G>A at the associated SNP. Another variant (rs6782812) in a pleiotropic myeloid enhancer near GATA2 reduced enhancer activity by 69%
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GATA-binding protein 2 (GATA2)
Homo sapiens
human - (species)
Published - Accepted by Curator
GCLM
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001664
GCLM
Q2T9Y6
Physiology
On chromosome 3. Associated SNP upstream of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
GCLM
Bos taurus
cattle - (species)
Published - Accepted by Curator
GCNF (NR6A1)
Vertebrae number
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Mikawa S; Morozumi T; Shimanuki S ; et al. (2007)
Fine mapping of a swine quantitative trait locus for number of vertebrae and analysis of an orphan n[...]
GP00000386
Nr6a1
Q64249
Morphology
Pro192Leu
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
GCNF (NR6A1)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
GDF6
Dermal bone size (armor plates)
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Indjeian VB; Kingman GA; Jones FC ; et al. (2016)
Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.
GP00000388
GDF6
Q6KF10
Morphology
gain of a flank enhancer activity involving a complex repeat region; 1.2kb L2 LINE insertion; 18 small indels and 89 SNPs - the LINE insertion is required but not sufficient, to produce increased flank expression
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
GDF6
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
GDF6
Limb morphology (hindlimb;skeleton)
Cis-regulatory,
Deletion
Homininae
(subfamily) D
Intergeneric or Higher
Candidate Gene
Indjeian VB; Kingman GA; Jones FC ; et al. (2016)
Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.
GP00000389
GDF6
Q6KF10
Morphology
Loss of a limb specific enhancer, the deletion is 5.6 kb
Homo sapiens
human - (species)
Homininae
(subfamily) D
GDF6
Homininae
(subfamily)
Published - Accepted by Curator
GDF7
Feathers (loss)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Mou C; Pitel F; Gourichon D ; et al. (2011)
Cryptic patterning of avian skin confers a developmental facility for loss of neck feathering.
GP00002185
Gdf7
P43029
Morphology
a large insertion approximately 260kb downstream from the BMP12 gene (now known as GFD7) increasing the expression of this gene in embryonic skin
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
GDF7
Gallus gallus
chicken - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Silva BD; Castro EA; Souza CJ ; et al. (2011)
A new polymorphism in the Growth and Differentiation Factor 9 (GDF9) gene is associated with increas[...]
GP00000390
GDF9
O60383
Physiology
F345C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Nicol L; Bishop SC; Pong-Wong R ; et al. (2009)
Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility i[...]
GP00000391
GDF9
O60383
Physiology
g.41841117A>C c.1279A>C p.S427R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Våge DI; Husdal M; Kent MP ; et al. (2013)
A missense mutation in growth differentiation factor 9 (GDF9) is strongly associated with litter siz[...]
1 Additional References
GP00002186
GDF9
O60383
Physiology
g.41841285G>A c.1111G>A p.V371M
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002187
GDF9
O60383
Physiology
g.41841212C>T c.1184C>T p.S395F
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Souza CJ; McNeilly AS; Benavides MV ; et al. (2014)
Mutation in the protease cleavage site of GDF9 increases ovulation rate and litter size in heterozyg[...]
GP00002188
GDF9
O60383
Physiology
g.41841453C>T c.943C>T p.R315C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
Ge-1
Pathogen resistance (sigma virus)
Coding,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Cao C; Magwire MM; Bayer F ; et al. (2016)
A Polymorphism in the Processing Body Component Ge-1 Controls Resistance to a Naturally Occurring Rh[...]
GP00001993
Ge-1
Q9VKK1
Physiology
78bp deletion ( 2L:11097925 ..11098002 in both Release 5 and Release 6 coordinates) in the fifth exon of Ge-1 which reduces the length of the serine-rich linker region by 26 amino acid residues
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Ge-1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
GIGANTEA
Photoperiod response
Circadian rhythm
Coding,
SNP
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Xie Q; Lou P; Hermand V ; et al. (2015)
Allelic polymorphism of GIGANTEA is responsible for naturally occurring variation in circadian perio[...]
GP00000396
GI
Q9SQI2
Physiology
Physiology
Ser264Ala
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
GIGANTEA
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
GL3.1
Grain size
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Qi P; Lin YS; Song XJ ; et al. (2012)
The novel quantitative trait locus GL3.1 controls rice grain size and yield by regulating Cyclin-T1;[...]
GP00000397
GL3
Q9FN69
Morphology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GL3.1
Oryza sativa
rice - (species)
Published - Accepted by Curator
GL7
Grain size
Grain quality
Gene Amplification,
Indel
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Wang Y; Xiong G; Hu J ; et al. (2015)
Copy number variation at the GL7 locus contributes to grain size diversity in rice.
GP00001541
LNG1
Q9LF24
Morphology
Physiology
tandem duplication of a 17.1 kb segment containing GL7. Both copies encode exactly the same polypeptide and exhibit similar transcript levels leading to upregulation
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GL7
Oryza sativa
rice - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001239
GL1
P27900
Morphology
S92F
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001242
GL1
P27900
Morphology
high frequency pattern of polymorphism identified in the third exon and 3' flank
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000401
G6PD
P11413
Physiology
Ser188Phe C>T
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Louicharoen C; Patin E; Paul R ; et al. (2009)
Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.
GP00000402
G6PD
P11413
Physiology
Ser163Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000403
G6PD
P11413
Physiology
Val68Met G>A at nucleotide position 376 in exon 5 - OMIM code +305900.0002
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-dependent insulinotropic polypeptide
Glycemia
Adipolysis rate
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Chang CL; Cai JJ; Lo C ; et al. (2011)
Adaptive selection of an incretin gene in Eurasian populations.
GP00000404
GIP
P09681
Physiology
Physiology
Ser103Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-dependent insulinotropic polypeptide
Homo sapiens
human - (species)
Published - Accepted by Curator
GLUD2 retrogene
Gene expression change (novel expression domain in testicles and brain)
Gene Amplification,
Complex Change
Hominidae
great apes - (family) D
Intergeneric or Higher
Candidate Gene
Burki F; Kaessmann H (2004)
Birth and adaptive evolution of a hominoid gene that supports high neurotransmitter flux.
1 Additional References
GP00000405
GLUD2
P49448
Physiology
Retroduplication; + E7K enhancing mitochondrial targeting
Mammalia
mammals - (class)
Hominidae
great apes - (family) D
GLUD2 retrogene
Hominidae
great apes - (family)
Published - Accepted by Curator
glutamate dehydrogenase (GDH)
Silk yield
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002406
bb8
Q9VCN3
Physiology
Increased expression in the domesticated strains
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
glutamate dehydrogenase (GDH)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
glutamate synthase (GOGAT)
Silk yield
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002407
GS
M9NFH8
Physiology
Increased expression in the domesticated strains at the larval stage
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
glutamate synthase (GOGAT)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; abamectin)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Dermauw W; Ilias A; Riga M ; et al. (2012)
The cys-loop ligand-gated ion channel gene family of Tetranychus urticae: implications for acaricide[...]
GP00002601
GluClalpha
Q94900
Physiology
G326E inTu_GluCl3
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
glutamate-gated chloride channel (GluCl)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; nodulisporic acid)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Kane NS; Hirschberg B; Qian S ; et al. (2000)
Drug-resistant Drosophila indicate glutamate-gated chloride channels are targets for the antiparasit[...]
GP00002602
GluClalpha
Q94900
Physiology
P299S
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glutamate-gated chloride channel (GluCl)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; ivermectin)
Coding,
SNP
Cooperia oncophora
(species) D
Intraspecific
Candidate Gene
Njue AI; Hayashi J; Kinne L ; et al. (2004)
Mutations in the extracellular domains of glutamate-gated chloride channel alpha3 and beta subunits [...]
GP00002603
GluClalpha
Q94900
Physiology
E114G V235A L256F in the GluCla3 ortholog and V60A R101Hin the GluClb ortholog.
Cooperia oncophora
(species)
Cooperia oncophora
(species) D
glutamate-gated chloride channel (GluCl)
Cooperia oncophora
(species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; ivermectin)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Kwon DH; Yoon KS; Clark JM ; et al. (2010)
A point mutation in a glutamate-gated chloride channel confers abamectin resistance in the two-spott[...]
1 Additional References
GP00002604
GluClalpha
Q94900
Physiology
G323D in the highly conserved TM2 region of Tu_GluCl
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
glutamate-gated chloride channel (GluCl)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; abamectin)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Wang X; Wang R; Yang Y ; et al. (2016)
A point mutation in the glutamate-gated chloride channel of Plutella xylostella is associated with r[...]
GP00002634
GluClalpha
Q94900
Physiology
A309V
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
glutamate-gated chloride channel (GluCl)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
glutamine synthetase 2 (GS)
Silk yield
Unknown,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xiang H; Liu X; Li M ; et al. (2018)
The evolutionary road from wild moth to domestic silkworm.
1 Additional References
GP00002405
Gs2
P20478
Physiology
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
glutamine synthetase 2 (GS)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
glycerol-3-phosphate dehydrogenase (Gpdh)
Enzymatic activity
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Bewley Glenn C (1981
)
Genetic control of the developmental program of L‐glycerol‐3‐phosphate dehydrogenase isozymes in Dro[...]
GP00001992
Gpdh
P13706
Physiology
Exact causal mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glycerol-3-phosphate dehydrogenase (Gpdh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
glycerol-3-phosphate dehydrogenase (Gpdh)
Enzymatic activity
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Wilanowski TM; Gibson JB; Symonds JE (1995)
Retrotransposon insertion induces an isozyme of sn-glycerol-3-phosphate dehydrogenase in Drosophila [...]
GP00001998
Gpdh
P13706
Physiology
insertion of a 8kb blood retrotransposon in the 3' region of the Gpdh gene 66bp downstream of the stop codon. This mutation induces a GPDH isozyme-GPDH-4-and alters the pattern of expression of the three normal isozymes-GPDH-1 to GPDH-3.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glycerol-3-phosphate dehydrogenase (Gpdh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
GmHs1-1 (Glyma02g43700.1)
Seed hardness
Seed coat permeability
Coding,
SNP
Glycine max
soybean - (species) D
Domesticated
Linkage Mapping
Sun L; Miao Z; Cai C ; et al. (2015)
GmHs1-1, encoding a calcineurin-like protein, controls hard-seededness in soybean.
GP00001543
Hs1
I1JIK2
Physiology
Physiology
C>T p.Thr>Met predicted to affect the alpha-helix of the protein
Glycine soja
(species)
Glycine max
soybean - (species) D
GmHs1-1 (Glyma02g43700.1)
Glycine max
soybean - (species)
Published - Accepted by Curator
goldentouch
Coloration
Cis-regulatory,
Insertion
Amphilophus citrinellus
Midas cichlid - (species)
Intraspecific
Association Mapping
Kratochwil CF; Kautt AF; Nater A ; et al. (2022)
An intronic transposon insertion associates with a trans-species color polymorphism in Midas cichlid[...]
GP00002362
Morphology
"Using a new haplotype-resolved long-read assembly we discover an 8.2 kb, transposon-derived inverted repeat in an intron of an undescribed gene, which we term goldentouch in reference to the Greek myth of King Midas. The gene goldentouch is differentially expressed between morphs, presumably due to structural implications of inverted repeats in both DNA and/or RNA (cruciform and hairpin formation). The near-perfect association of the insertion with the phenotype across independent populations suggests that it likely underlies this trans-specific, stable polymorphism."
Amphilophus citrinellus
Midas cichlid - (species)
Amphilophus citrinellus
Midas cichlid - (species)
goldentouch
Amphilophus citrinellus
Midas cichlid - (species)
Published - Accepted by Curator
GPA1
Pheromone response
Cell elongation
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Yvert G; Brem RB; Whittle J ; et al. (2003)
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors.
1 Additional References
GP00000410
GPA1
P08539
Physiology
Physiology
Ser469Ile
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
GPA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GPR22
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Batcher K; Varney S; Affolter VK ; et al. (2022)
An SNN retrocopy insertion upstream of GPR22 is associated with dark red coat color in Poodles.
GP00002389
GPR22
Q99680
Morphology
A SNNL1 retrocopy element is inserted within the intron of COG5 and 2.8kbp upstream of and in the same orientation as GPR22. It is likely disrupting regulation of the CPR22 gene, resulting in higher gene expression and atypical expression in the skin.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
GPR22
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Insertion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001669
GPRC6A
Q5T6X5
Physiology
insertion of KL (6 bp) resulting in sequence KGKKLY in the third intracellular loop (ICL3) with surface expression and function greatly reduced
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Deletion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001670
GPRC6A
Q5T6X5
Physiology
KGRKLP>KGRK-Y in the third intracellular loop (ICL3) with surface expression and function greatly reduced
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPX2
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Interspecific
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001310
GPX2
P38143
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
GPX2
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
Gr5a
Taste sensitivity (sugar; trehalose)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Ueno K; Ohta M; Morita H ; et al. (2001)
Trehalose sensitivity in Drosophila correlates with mutations in and expression of the gustatory rec[...]
2 Additional References
GP00001997
Gr5a
Q9W497
Physiology
Nucleotide change: A5681571G - Amino acid change: T218A
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Gr5a
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
GRAMD3
Body fat distribution (visceral)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001557
GRAMD2B
Q96HH9
Physiology
A>C in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GRAMD3
Homo sapiens
human - (species)
Published - Accepted by Curator
GRAMD3
Coloration (skin)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Xu J; Lin S; Gao X ; et al. (2017)
Mapping of Id locus for dermal shank melanin in a Chinese indigenous chicken breed.
GP00002391
GRAMD3
F1NDM3
Morphology
No coding mutation in GRAMD3. The expression of GRAMD3 gene in the dermis tissues of the shank was significantly (P = 0.010738 < 0.05) higher in 350-day-old Gushi chickens characterized by the dermal shank pigmentation than in one-day-old Gushi chickens. Variation in the flanking region of GRAMD3 probably leads to the abnormal expression of GRAMD3.
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
GRAMD3
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Green-sensitive opsin (RH2)
Color vision (blue shift)
Coding,
SNP
Thunnus orientalis
Pacific bluefin tuna - (species) D
Intergeneric or Higher
Candidate Gene
Nakamura Y; Mori K; Saitoh K ; et al. (2013)
Evolutionary changes of multiple visual pigment genes in the complete genome of Pacific bluefin tuna[...]
GP00001469
opn1mw1
Q9W6A5
Physiology
p.E122Q (G>C) in four of five genes
Percomorphaceae
(no rank)
Thunnus orientalis
Pacific bluefin tuna - (species) D
Green-sensitive opsin (RH2)
Thunnus orientalis
Pacific bluefin tuna - (species)
Published - Accepted by Curator
Growth Hormone Receptor
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Viitala S; Szyda J; Blott S ; et al. (2006)
The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...]
1 Additional References
GP00000416
Ghr
P16882
Physiology
Phe279Tyr
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
Growth Hormone Receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
growth hormone receptor (GHR)
Body size (weight)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001475
GHR
Q9TU69
Morphology
G>A in exon 5 p.E191K in extracellular domain
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
growth hormone receptor (GHR)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
growth hormone receptor (GHR)
Body size (weight)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001476
GHR
Q9TU69
Morphology
C>T in exon 5 p.P177L in extracellular domain
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
growth hormone receptor (GHR)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
GS5
Grain size
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Li Y; Fan C; Xing Y ; et al. (2011)
Natural variation in GS5 plays an important role in regulating grain size and yield in rice.
GP00000418
GS5
B8AYD6
Morphology
Promoter variation
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GS5
Oryza sativa
rice - (species)
Published - Accepted by Curator
GSDMB
Body fat distribution (subcutaneous)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001556
GSDMB
Q8TAX9
Physiology
T>C in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GSDMB
Homo sapiens
human - (species)
Published - Accepted by Curator
GST
Xenobiotic resistance (pyrethroid)
Gene Amplification,
Insertion
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Vontas JG; Small GJ; Nikou DC ; et al. (2002)
Purification, molecular cloning and heterologous expression of a glutathione S-transferase involved [...]
GP00002643
GstD1
P20432
Physiology
nlgst1-1 is overexpressed in resistant insects. Southern analysis of genomic DNA from the resistant and susceptible strains indicated that GST-based insecticide resistance may be associated with gene amplification in N. lugens.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
GST
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
GW7
Grain shape
Grain quality
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Wang S; Li S; Liu Q ; et al. (2015)
The OsSPL16-GW7 regulatory module determines grain shape and simultaneously improves rice yield and [...]
GP00001540
TON1A
Q9FQ25
Morphology
Physiology
18 SNPs and 9 indels observed in the promoter region and exon 1 and in particular an 11-bp deletion and 18-bp insertion near GTAC motifs which are normally binded by OsSPL16 repressor (reduced binding increasing transcription)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GW7
Oryza sativa
rice - (species)
Published - Accepted by Curator
HAC1 (=ATQ1)
Xenobiotic resistance (soil contamination; arsenate)
Unknown,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Sánchez-Bermejo E; Castrillo G; del Llano B ; et al. (2014)
Natural variation in arsenate tolerance identifies an arsenate reductase in Arabidopsis thaliana.
1 Additional References
GP00000434
HAC1
Q9C5X9
Physiology
Coding variation and differential gene expression in roots
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HAC1 (=ATQ1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
hairy (h)
Bristle number (thorax)
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Robin C; Lyman RF; Long AD ; et al. (2002)
hairy: A quantitative trait locus for drosophila sensory bristle number.
GP00000436
h
P14003
Morphology
unknown; complex promoter indel variation shows high-association
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
hairy (h)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (mean blood corpuscular hemoglobin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001607
HBS1L
Q9Y450
Physiology
T>C at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (mean blood corpuscular hemoglobin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001608
HBS1L
Q9Y450
Physiology
A>G at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (red blood cell count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001609
HBS1L
Q9Y450
Physiology
C>T at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000443
HMA3
P0CW78
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ueno D; Yamaji N; Kono I ; et al. (2010)
Gene limiting cadmium accumulation in rice.
GP00000445
HMA3
P0CW78
Physiology
H80R
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
heavy metal atpase3 (HMA3)
Oryza sativa
rice - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Gene Amplification,
Complex Change
Noccaea caerulescens
(species)
Intraspecific
Candidate Gene
Ueno D; Milner MJ; Yamaji N ; et al. (2011)
Elevated expression of TcHMA3 plays a key role in the extreme Cd tolerance in a Cd-hyperaccumulating[...]
GP00000446
HMA3
P0CW78
Physiology
Copy number Variant
Noccaea caerulescens
(species)
Noccaea caerulescens
(species)
heavy metal atpase3 (HMA3)
Noccaea caerulescens
(species)
Published - Accepted by Curator
heavy metal atpase4 (HMA4)
Metal tolerance
Gene Amplification,
Complex Change
Arabidopsis halleri
(species)
Interspecific
Linkage Mapping
Hanikenne M; Talke IN; Haydon MJ ; et al. (2008)
Evolution of metal hyperaccumulation required cis-regulatory changes and triplication of HMA4.
1 Additional References
GP00000448
HMA4
O64474
Physiology
Gene duplication
Arabidopsis thaliana
thale cress - (species)
Arabidopsis halleri
(species)
heavy metal atpase4 (HMA4)
Arabidopsis halleri
(species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000450
HMA5
Q9SH30
Physiology
P626L
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000451
HMA5
Q9SH30
Physiology
N923T
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000452
hecw-1
G5EEJ0
Behavior
Y322C
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000453
hecw-1
G5EEJ0
Behavior
Q325P
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
hemoglobin; HBA
Hypoxia response
Coding,
SNP
Lama
(genus)
Interspecific
Candidate Gene
Kleinschmidt T; März J; Jürgens KD ; et al. (1986)
Interaction of allosteric effectors with alpha-globin chains and high altitude respiration of mammal[...]
GP00000454
HBA1
P69905
Physiology
Asp122His
Mammalia
mammals - (class)
Lama
(genus)
hemoglobin; HBA
Lama
(genus)
Published - Accepted by Curator
hemoglobin; HBA and HBB
Hypoxia response
Coding,
SNP
Crocodylus niloticus
Nile crocodile - (species)
Intergeneric or Higher
Candidate Gene
Komiyama NH; Miyazaki G; Tame J ; et al. (1995)
Transplanting a unique allosteric effect from crocodile into human haemoglobin.
GP00000455
HBA1
P69905
Physiology
No more than 12 amino acid substitutions required for providing crocodile-like properties in engineered human Hb - effect of single amino acid changes not tested
Homo sapiens
human - (species)
Crocodylus niloticus
Nile crocodile - (species)
hemoglobin; HBA and HBB
Crocodylus niloticus
Nile crocodile - (species)
Published - Accepted by Curator
hemoglobin; HBA-T1 and T2 paralogues
Hypoxia response
5 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Sabatino SJ; Hoffmann FG ; et al. (2007)
The molecular basis of high-altitude adaptation in deer mice.
2 Additional References
GP00000456
HBA1
P69905
Physiology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBA-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000457
HBA1
P69905
Physiology
Asn9Ser
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
hemoglobin; HBA2
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000458
HBA1
P69905
Physiology
Ala77Thr
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000459
HBAD
P02001
Physiology
Ser130Phe
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000460
HBA1
P69905
Physiology
Ala77Thr
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000461
HBAD
P02001
Physiology
Val96Ala
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anser indicus
bar-headed goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
2 Additional References
GP00000462
HBA1
P69905
Physiology
Pro119Ala
Anser anser
domestic goose - (species)
Anser indicus
bar-headed goose - (species) D
hemoglobin; HBA2
Anser indicus
bar-headed goose - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000463
HBA1
P69905
Physiology
Ala5Thr
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBA2
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Merganetta armata
(species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000464
HBA1
P69905
Physiology
Ala77Thr
Merganetta armata
(species)
Merganetta armata
(species) D
hemoglobin; HBA2
Merganetta armata
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
2 Mutations:
Coding
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000465
HBAD
P02001
Physiology
2 mutations
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBA2
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Jallow M; Teo YY; Small KS ; et al. (2009)
Genome-wide and fine-resolution association analysis of malaria in West Africa.
GP00000466
HBB
P68871
Physiology
Glu6Val
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
hemoglobin; HBB
Homo sapiens
human - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000467
HBB
P68871
Physiology
2 mutations
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBB
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas georgica
yellow-billed pintail - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000468
HBB
P68871
Physiology
2 mutations
Anas georgica
yellow-billed pintail - (species)
Anas georgica
yellow-billed pintail - (species) D
hemoglobin; HBB
Anas georgica
yellow-billed pintail - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000469
HBB
P68871
Physiology
2 mutations
Anas
ducks - (genus)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Lophonetta specularioides
crested duck - (species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000470
HBB
P68871
Physiology
2 mutations
Anatidae
waterfowl - (family)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000471
HBB
P68871
Physiology
Asp94Glu
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000472
HBB
P68871
Physiology
Asp94Glu
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
2 Additional References
GP00000473
HBB
P68871
Physiology
Leu55Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000474
HBB
P68871
Physiology
Ala86Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
3 Mutations:
Coding
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000475
HBA1
P69905
Physiology
3 mutations
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB-T1 and T2 paralogues
Hypoxia response
4 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Runck AM; Sabatino SJ ; et al. (2009)
Evolutionary and functional insights into the mechanism underlying high-altitude adaptation of deer [...]
1 Additional References
GP00000476
HBB
P68871
Physiology
4 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBB-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBB/HBD fusion gene
Temperature tolerance (cold)
3 Mutations:
Coding
SNP
Mammuthus primigenius
woolly mammoth - (species)
Intergeneric or Higher
Candidate Gene
Campbell KL; Roberts JE; Watson LN ; et al. (2010)
Substitutions in woolly mammoth hemoglobin confer biochemical properties adaptive for cold tolerance[...]
GP00000477
HBB
P68871
Physiology
3 mutations
Elephantidae
elephants - (family)
Mammuthus primigenius
woolly mammoth - (species)
hemoglobin; HBB/HBD fusion gene
Mammuthus primigenius
woolly mammoth - (species)
Published - Accepted by Curator
herfst
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002422
rk
Q7KTA0
Morphology
No variation in coding region. Strong association with cis-regulatory SNP. CRISPR mutant clones for the herfst gene display light tan scales.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
herfst
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
HES7
Organ size (tail; short)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Lyons LA; Creighton EK; Alhaddad H ; et al. (2016)
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentatio[...]
1 Additional References
GP00002190
HES7
Q9BYE0
Morphology
g.2819475A>G c.5A>G p.V2A
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
HES7
Felis catus
domestic cat - (species)
Published - Accepted by Curator
HMX1
Organ size (ear; cropped)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Koch CT; Bruggmann R; Tetens J ; et al. (2013)
A non-coding genomic duplication at the HMX1 locus is associated with crop ears in highland cattle.
GP00002191
HMX1
Q9NP08
Morphology
76bp duplication in an ultra-conserved enhancer located 148 kb apart of the coding region of HMX1
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
HMX1
Bos taurus
cattle - (species)
Published - Accepted by Curator
Hooded
Flower morphology
Cis-regulatory,
Insertion
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Müller KJ; Romano N; Gerstner O ; et al. (1995)
The barley Hooded mutation caused by a duplication in a homeobox gene intron.
GP00000488
KNOX3
Q43484
Morphology
305bp duplication in intron 4
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
Hooded
Hordeum vulgare
(species)
Published - Accepted by Curator
Hoxb8
Feather (bird face)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Guo Y; Gu X; Sheng Z ; et al. (2016)
A Complex Structural Variation on Chromosome 27 Leads to the Ectopic Expression of HOXB8 and the Muf[...]
GP00002193
Hoxb8
P09632
Morphology
Complex Structural Variation with 3 CNVs including a 14.8kb copy of hoxb7 + hoxb8 ; results in ectopic (unrepressed) expression of hoxb8 in feathers especially in the facial region
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Hoxb8
Gallus gallus
chicken - (species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002004
Hsp70Ba
Q8INI8
Physiology
A 1447 bp fragment corresponding to the 39 end of a jockey element is inserted 107 bps upstream of the hsp70Ba transcription start site in the T strain. The insertion intervenes between HSEs 2 and 3; displacing HSEs 3 and 4 as well as three GAGA elements.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002005
Hsp70Ba
Q8INI8
Physiology
Insertion of a 1222bp non-autonomous P-element at position -184 relative to the Hsp70Ba transcription start site. The P-element intervenes between the second and third heat shock response elements (HSEs).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002006
Hsp70Ba
Q8INI8
Physiology
A non-autonomous 1383bp P-element is inserted 97bp upstream of the Hsp70Ba transcription start site. The P-element intervenes between the second and third heat shock response elements (HSEs).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
HSP90
Developmental time
Unknown,
Insertion
Locusta migratoria
migratory locust - (species) D
Intraspecific
Candidate Gene
Chen B; Zhang B; Xu L ; et al. (2017)
Transposable Element-Mediated Balancing Selection at Hsp90 Underlies Embryo Developmental Variation.
GP00002437
daf-21
Q18688
Physiology
an Lm1 SINE insertion in the third exon of the Hsp90 gene produces an alternative splicing form associated with faster development and higher developmental synchrony. Found by scanning Lm1 insertions in natural locust populations.
Locusta migratoria
migratory locust - (species)
Locusta migratoria
migratory locust - (species) D
HSP90
Locusta migratoria
migratory locust - (species)
Published - Accepted by Curator
Human Leukocyte Antigen-B (HLA-B)
Pathogen resistance (HIV control)
5 Mutations:
Coding
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
; Pereyra F; Jia X ; et al. (2010)
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
GP00000492
HLA-B
P01889
Physiology
5 mutations
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Human Leukocyte Antigen-B (HLA-B)
Homo sapiens
human - (species)
Published - Accepted by Curator
HXT6/7
Low-glucose adaptation (experimental evolution)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Brown CJ; Todd KM; Rosenzweig RF (1998)
Multiple duplications of yeast hexose transport genes in response to selection in a glucose-limited [...]
4 Additional References
GP00000494
HXT6
P39003
Physiology
expansion by inequal recombination between HXT6 and HXT7 (99% nucleotide similarity) ; replicated in two independent studies and in multiple lines
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
HXT6/7
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Hybrid male rescue
Hybrid incompatibility (F1 male lethality)
Unknown,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Brideau NJ; Flores HA; Wang J ; et al. (2006)
Two Dobzhansky-Muller genes interact to cause hybrid lethality in Drosophila.
GP00000495
Hmr
Q86CW5
Physiology
Rapid coding divergence
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Hybrid male rescue
Drosophila simulans
(species)
Published - Accepted by Curator
I Kappa B Kinase Interacting Protein (IKBIP)
Lifespan
Unknown,
Unknown
Nothobranchius furzeri
turquoise killifish - (species)
Intraspecific
Association Mapping
Reichwald K; Petzold A; Koch P ; et al. (2015)
Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish.
GP00001678
IKBIP
Q70UQ0
Physiology
Under positive selection; down regulated in aging skin
Nothobranchius furzeri
turquoise killifish - (species)
Nothobranchius furzeri
turquoise killifish - (species)
I Kappa B Kinase Interacting Protein (IKBIP)
Nothobranchius furzeri
turquoise killifish - (species)
Published - Accepted by Curator
IGF2BP1
Body size (weight)
Cis-regulatory,
Unknown
Anas platyrhynchos
mallard - (species) D
Domesticated
Linkage Mapping
Zhou Z; Li M; Cheng H ; et al. (2018)
An intercross population study reveals genes associated with body size and plumage color in ducks.
GP00002128
IGF2BP1
O42254
Morphology
We found that the phenotypic values of body size related traits together with IGF2BP1 expression levels were successfully fine-mapped of the causal variation in an ~100-kb region (chr28: 4,413,785-4,513,671) located on the 148 kb upstream of the IGF2BP1 gene
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
IGF2BP1
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
IIL1
Plant growth (pleiotropic growth abnormalities)
Cis-regulatory,
Insertion
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Sureshkumar S; Todesco M; Schneeberger K ; et al. (2009)
A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana.
1 Additional References
GP00001229
IIL1
Q94AR8
Morphology
expansion of a GAA/TTC trinucleotide repeat in the third intron
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
IIL1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
IL4
Immune response
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Linkage Mapping
Rockman MV; Hahn MW; Soranzo N ; et al. (2003)
Positive selection on a human-specific transcription factor binding site regulating IL4 expression.
GP00000497
IL4
P05112
Physiology
_524T promoter single base-pair substitution affecting binding of the NFAT transcription factor
Homo sapiens
human - (species)
Homo sapiens
human - (species)
IL4
Homo sapiens
human - (species)
Published - Accepted by Curator
IME1
Sporulation efficiency
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00000498
IME1
P21190
Physiology
L325M and/or 1bp synonymous substitution
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
IME1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Inhibitor of DNA binding 3 (id3)
Lifespan
Coding,
Deletion
Nothobranchius pienaari
(species) D
Interspecific
Association Mapping
Reichwald K; Petzold A; Koch P ; et al. (2015)
Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish.
GP00001677
ID3
Q02535
Physiology
One evolutionarily conserved aa (E) is deleted in id3 C-terminus
Nothobranchius rachovii
bluefin notho - (species)
Nothobranchius pienaari
(species) D
Inhibitor of DNA binding 3 (id3)
Nothobranchius pienaari
(species)
Published - Accepted by Curator
InR
Fertility
Developmental time
Body size
Stress response
Lifespan
Coding,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Paaby AB; Bergland AO; Behrman EL ; et al. (2014)
A highly pleiotropic amino acid polymorphism in the Drosophila insulin receptor contributes to life-[...]
1 Additional References
GP00002663
InR
P09208
Morphology
Morphology; Physiology
Physiology
Physiology
Physiology
Deletion of 9 nucleotides in the first exon. The two alleles differ by presence/absence of the three amino acids QHH.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
InR
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Insulin-like growth factor 2 (IGF2)
Muscular mass
Fat deposition
Heart size
Cis-regulatory,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Van Laere AS; Nguyen M; Braunschweig M ; et al. (2003)
A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig.
GP00000502
Igf2
P09535
Morphology
Physiology
Morphology
1bp change
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Insulin-like growth factor 2 (IGF2)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Insulin-like growth factor receptor 1 (IGF1R)
Body size (weight)
Coding,
SNP
Homo sapiens
human - (species) D
Domesticated
Candidate Gene
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001479
IGF1R
P08069
Morphology
G>A p.R204H in exon 2
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
Insulin-like growth factor receptor 1 (IGF1R)
Homo sapiens
human - (species)
Published - Accepted by Curator
interleukin-4
Immune response
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Rockman MV; Hahn MW; Soranzo N ; et al. (2003)
Positive selection on a human-specific transcription factor binding site regulating IL4 expression.
GP00000504
IL4R
P24394
Physiology
1bp substitution in promoter
Primates
(order)
Homo sapiens
human - (species)
interleukin-4
Homo sapiens
human - (species)
Published - Accepted by Curator
Ir75a
Olfaction
Coding,
SNP
Drosophila sechellia
(species) D
Interspecific
Candidate Gene
Prieto-Godino LL; Rytz R; Bargeton B ; et al. (2016)
Olfactory receptor pseudo-pseudogenes.
GP00001701
Ir75a
Q9VVL1
Physiology
T289S and/or Q536K and/or F538L - introduction of these three amino acid changes in the D. melanogaster protein is sufficient to confer response indistinguishable from the one of D. sechellia
Drosophila melanogaster
fruit fly - (species)
Drosophila sechellia
(species) D
Ir75a
Drosophila sechellia
(species)
Published - Accepted by Curator
Ir75b
Olfaction
Coding,
SNP
Drosophila sechellia
(species) D
Interspecific
Candidate Gene
Prieto-Godino LL; Rytz R; Cruchet S ; et al. (2017)
Evolution of Acid-Sensing Olfactory Circuits in Drosophilids.
GP00001702
Ir75b
B7Z069
Physiology
T523S in the LBD domain - caused by C1568G
Drosophila melanogaster
fruit fly - (species)
Drosophila sechellia
(species) D
Ir75b
Drosophila sechellia
(species)
Published - Accepted by Curator
IRA1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001709
IRA1
P18963
Physiology
Arg1583Lys (G>A at position 521875 according to Table 1) - AGR to AAR position 521875
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
IRA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
IRF2BP2
Hair type (woolly)
Cis-regulatory,
Insertion
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Demars J; Cano M; Drouilhet L ; et al. (2017)
Genome-Wide Identification of the Mutation Underlying Fleece Variation and Discriminating Ancestral [...]
GP00002195
IRF2BP2
Q7Z5L9
Morphology
insertion of an antisense EIF2S2 retrogene (asEIF2S2) into the 3′ UTR of the IRF2BP2 gene ; RNA-RNA hybrid creates a long endogenous double-stranded RNA which alters the expression of both EIF2S2 and IRF2BP2 mRNA
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
IRF2BP2
Ovis aries
sheep - (species)
Published - Accepted by Curator
IRF4
Coloration (skin)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Praetorius C; Grill C; Stacey SN ; et al. (2013)
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...]
1 Additional References
GP00001364
IRF4
Q15306
Morphology
a C>T substitution in intron4 located within an enhancer
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
IRF4
Homo sapiens
human - (species)
Published - Accepted by Curator
Isocitrate dehydrogenase (NADP) (IDH)
Temperature tolerance (temperature range)
2 Mutations:
Coding
SNP
Mytilus trossulus
common blue mussel - (species)
Interspecific
Candidate Gene
Lockwood BL; Somero GN (2012)
Functional determinants of temperature adaptation in enzymes of cold- versus warm-adapted mussels (G[...]
GP00000506
I1VYX2
Physiology
2 mutations
Mytilus galloprovincialis
Mediterranean mussel - (species)
Mytilus trossulus
common blue mussel - (species)
Isocitrate dehydrogenase (NADP) (IDH)
Mytilus trossulus
common blue mussel - (species)
Published - Accepted by Curator
Jheh1-Jheh2-Jheh3 complex
Oxidative stress resistance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
González J; Macpherson JM; Petrov DA (2009)
A recent adaptive transposable element insertion near highly conserved developmental loci in Drosoph[...]
1 Additional References
GP00001782
JHEH
Q6U6J0
Physiology
insertion of a transposable element Bari-Jheh associated with downregulation of Juvenile hormone epoxy hydroxylase 2 (Jheh2) and Jheh3 in nonstress conditions and with upregulation of Jheh1 and Jheh2 and downregulation of Jheh3 under oxidative stress conditions
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Jheh1-Jheh2-Jheh3 complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
KAI2 paralogs
Seed dormancy (strigolactone responsiveness)
Coding,
Unknown
Orobancheae
(tribe) D
Intergeneric or Higher
Candidate Gene
Conn CE; Bythell-Douglas R; Neumann D ; et al. (2015)
PLANT EVOLUTION. Convergent evolution of strigolactone perception enabled host detection in parasiti[...]
GP00000509
D14
Q10QA5
Physiology
Ligand-binding pocket tuning in duplicated gene
Orobanchaceae
(family)
Orobancheae
(tribe) D
KAI2 paralogs
Orobancheae
(tribe)
Published - Accepted by Curator
Kcnj13
Coloration
Unknown,
Unknown
Danio aesculapii
(species) D
Interspecific
Candidate Gene
Podobnik M; Frohnhöfer HG; Dooley CM ; et al. (2020)
Evolution of the potassium channel gene Kcnj13 underlies colour pattern diversification in Danio fis[...]
GP00002364
Kcnj13
P86046
Morphology
Danio rerio
zebrafish - (species)
Danio aesculapii
(species) D
Kcnj13
Danio aesculapii
(species)
Published - Accepted by Curator
KCNQ1
Body size (height)
Unknown,
Epigenetic Change
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015)
Height-reducing variants and selection for short stature in Sardinia.
GP00000511
KCNQ1
P51787
Morphology
unknown causative change in an imprinted region - consistent with maternal inheritance detected by the association
Homo sapiens
human - (species)
Homo sapiens
human - (species)
KCNQ1
Homo sapiens
human - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001510
PF3D7_1343700
Q8IDQ2
Physiology
D353Y affecting the BTB/POZ domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001511
PF3D7_1343700
Q8IDQ2
Physiology
P441L affecting the BTB/POZ domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001512
PF3D7_1343700
Q8IDQ2
Physiology
F446I affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001513
PF3D7_1343700
Q8IDQ2
Physiology
G449A affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001514
PF3D7_1343700
Q8IDQ2
Physiology
N458Y affecting the encoded propeller and BTB/POZ domains
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001515
PF3D7_1343700
Q8IDQ2
Physiology
A481V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001516
PF3D7_1343700
Q8IDQ2
Physiology
p.Tyr493His affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001517
PF3D7_1343700
Q8IDQ2
Physiology
N525D affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001518
PF3D7_1343700
Q8IDQ2
Physiology
N537I affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001519
PF3D7_1343700
Q8IDQ2
Physiology
p.Arg539Thr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001520
PF3D7_1343700
Q8IDQ2
Physiology
p.Ile543Thr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001521
PF3D7_1343700
Q8IDQ2
Physiology
p.Pro553Leu affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001522
PF3D7_1343700
Q8IDQ2
Physiology
R561H affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001523
PF3D7_1343700
Q8IDQ2
Physiology
V568G affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001524
PF3D7_1343700
Q8IDQ2
Physiology
P574L affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001525
PF3D7_1343700
Q8IDQ2
Physiology
p.Cys580Tyr affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001526
PF3D7_1343700
Q8IDQ2
Physiology
D584V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001527
PF3D7_1343700
Q8IDQ2
Physiology
F673I affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001528
PF3D7_1343700
Q8IDQ2
Physiology
A675V affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001529
PF3D7_1343700
Q8IDQ2
Physiology
H719N affecting the encoded propeller domain
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
kelch 13 (K13)
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Candidate Gene
Straimer J; Gnädig NF; Witkowski B ; et al. (2015)
Drug resistance. K13-propeller mutations confer artemisinin resistance in Plasmodium falciparum clin[...]
GP00001388
PF13_0238
A0A077LQB4
Physiology
M476I
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
kelch 13 (K13)
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Gene Amplification,
Complex Change
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Durkin K; Coppieters W; Drögemüller C ; et al. (2012)
Serial translocation by means of circular intermediates underlies colour sidedness in cattle.
GP00000514
Kit
P05532
Morphology
Copy Number Variation of <600kb segments encompassing KIT
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
Kit (type III receptor protein-tyrosine kinase)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Brooks SA; Bailey E (2005)
Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.
GP00000515
Kit
P05532
Morphology
T->A in intron 16; leads to skipping of exon 17
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Insertion
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
David VA; Menotti-Raymond M; Wallace AC ; et al. (2014)
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]
GP00000517
Kit
P05532
Morphology
full-length (7125 bp) FERV1 endogenous retrovirus insertion in intron
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Indel
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
Montague MJ; Li G; Gandolfi B ; et al. (2014)
Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology[...]
GP00000518
Kit
P05532
Morphology
Two nucleotide changes affecting site 3 of codon 345 and site 1 of codon 346 - resulting in Glu345Asp + His346Asn
c. 1035_1036delinsCA GAGCAY > GACAAY
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
David VA; Menotti-Raymond M; Wallace AC ; et al. (2014)
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]
GP00000519
Kit
P05532
Morphology
Excision of the full-length FERV1 elevement leaving the two LTR residues
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
2 Mutations:
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Marklund S; Kijas J; Rodriguez-Martinez H ; et al. (1998)
Molecular basis for the dominant white phenotype in the domestic pig.
3 Additional References
GP00000520
Kit
P05532
Morphology
2 mutations
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Kit (type III receptor protein-tyrosine kinase)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Vulpes vulpes
red fox - (species) D
Domesticated
Linkage Mapping
Johnson JL; Kozysa A; Kharlamova AV ; et al. (2015)
Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT.
GP00000521
Kit
P05532
Morphology
splice mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17.
Vulpes vulpes
red fox - (species)
Vulpes vulpes
red fox - (species) D
Kit (type III receptor protein-tyrosine kinase)
Vulpes vulpes
red fox - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Insertion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012)
Strong signatures of selection in the domestic pig genome.
1 Additional References
GP00001326
Kit
P05532
Morphology
4.3kb duplication (DUP2) located about 100 kb upstream of KIT
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Kit (type III receptor protein-tyrosine kinase)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (skin; coat)
Coding,
SNP
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Leeb T (2015)
Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]
GP00001340
Kit
P05532
Morphology
c.662A>C p.Tyr221Ser
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus asinus
ass - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (skin; coat)
Coding,
SNP
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Leeb T (2015)
Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]
GP00001341
Kit
P05532
Morphology
c.1978+2T>A in splice donor site
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus asinus
ass - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00001344
Kit
P05532
Morphology
c.1789G>A p.G597R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Gene Amplification,
Complex Change
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Brenig B; Beck J; Floren C ; et al. (2013)
Molecular genetics of coat colour variations in White Galloway and White Park cattle.
GP00001345
Kit
P05532
Morphology
duplication and aberrant insertion on chromosome 29
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Kit (type III receptor protein-tyrosine kinase)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Other,
SNP
Vulpes lagopus
Arctic fox - (species) D
Domesticated
Candidate Gene
Yan SQ; Hou JN; Bai CY ; et al. (2014)
A base substitution in the donor site of intron 12 of KIT gene is responsible for the dominant white[...]
GP00002192
Kit
P05532
Morphology
dominant white coat colour of blue fox results from an exon 12 skipping caused by a c.1867+1G>T substitution in the first nucleotide of intron 12 of the KIT gene
Vulpes lagopus
Arctic fox - (species)
Vulpes lagopus
Arctic fox - (species) D
Kit (type III receptor protein-tyrosine kinase)
Vulpes lagopus
Arctic fox - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Insertion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012)
Strong signatures of selection in the domestic pig genome.
1 Additional References
GP00002196
Kit
P05532
Morphology
the patch allele comprises a 450kb duplication that includes KIT (roughly in the middle)
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Kit (type III receptor protein-tyrosine kinase)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Gene Amplification,
Complex Change
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Küttel L; Letko A; Häfliger IM ; et al. (2019)
A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern.
1 Additional References
GP00002197
Kit
P05532
Morphology
Complex chromosomal rearragements including a ~310-kb duplication
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Kit (type III receptor protein-tyrosine kinase)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002199
Kit
P05532
Morphology
c.1805C>T p.A602V
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002200
Kit
P05532
Morphology
c.1960G>A p.G654R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002201
Kit
P05532
Morphology
c.2222-1G>A (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002203
Kit
P05532
Morphology
c.2684+1G>A (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002204
Kit
P05532
Morphology
c.338-1G>C (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002206
Kit
P05532
Morphology
c.856G>A p.G286R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002207
Kit
P05532
Morphology
c.1597T>C p.C533R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002208
Kit
P05532
Morphology
c.2021T>C p.L674P
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002209
Kit
P05532
Morphology
c.2001A>T p.E667D
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002210
Kit
P05532
Morphology
c.2472+5G>C (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002211
Kit
P05532
Morphology
c.2489A>T p.K830I
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002213
Kit
P05532
Morphology
c.2045G>A p.R682H
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002214
Kit
P05532
Morphology
c.1322A>G p.Y441C
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002215
Kit
P05532
Morphology
c.1346 + 1G>A (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Holl HM; Brooks SA; Carpenter ML ; et al. (2017)
A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all whi[...]
GP00002217
Kit
P05532
Morphology
c.756+1G>C (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Capomaccio S; Milanesi M; Nocelli C ; et al. (2017)
Splicing site disruption in the KIT gene as strong candidate for white dominant phenotype in an Ital[...]
GP00002218
Kit
P05532
Morphology
g.77736559C>T (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002220
Kit
P05532
Morphology
c.1473T>G p.Cys491Trp
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002221
Kit
P05532
Morphology
c.2536delA p.Ser846Valfs*15
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002222
Kit
P05532
Morphology
c.668T>C p.Leu223Pro
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Lim HT; Zhong T; Cho IC ; et al. (2011)
Novel alternative splicing by exon skipping in KIT associated with whole-body roan in an intercrosse[...]
1 Additional References
GP00002227
Kit
P05532
Morphology
U(26) repeat in intron 5 of the KIT gene with a single G interruption likely to mediate skipping of exon 5 of the gene in some tissues including skin ; the WT allele has an U(27) repeat interrupted by 5 G
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
Kit (type III receptor protein-tyrosine kinase)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Kit ligand
Coloration (hair)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Guenther CA; Tasic B; Luo L ; et al. (2014)
A molecular basis for classic blond hair color in Europeans.
GP00001349
KITLG
P21583
Morphology
A>G SNP(rs12821256) 350kb upstream of transcription start
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Kit ligand
Homo sapiens
human - (species)
Published - Accepted by Curator
KRT25
Hair type (curly)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Morgenthaler C; Diribarne M; Capitan A ; et al. (2017)
A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly[...]
1 Additional References
GP00002230
Krt25
Q8VCW2
Morphology
c.266G>A p.Arg89His
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
KRT25
Equus caballus
horse - (species)
Published - Accepted by Curator
KRT25
Hair type (curly)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Thomer A; Gottschalk M; Christmann A ; et al. (2018)
An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.
GP00002288
Sp6
Q9ESX2
Morphology
c.1090G>A p.Asp364Asn
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
KRT25
Equus caballus
horse - (species)
Published - Accepted by Curator
KRT6A
Feathers
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Ng CS; Wu P; Foley J ; et al. (2012)
The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis.
GP00000527
Krt6a
P50446
Morphology
69bp deletion partially overlapping with exon 5
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
KRT6A
Gallus gallus
chicken - (species)
Published - Accepted by Curator
KRT71
Hair type (curly)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000524
Krt71
Q9R0H5
Morphology
c.451A>T in exon 2 - Arg151Trp
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
KRT71
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
KRT71
Hair type (curly and hairless)
2 Mutations:
Coding
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010)
The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.
GP00000525
Krt71
Q9R0H5
Morphology
2 mutations
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
KRT71
Felis catus
domestic cat - (species)
Published - Accepted by Curator
KRT71
Hair type (curly)
Coding,
Indel
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Bauer A; Hadji Rasouliha S; Brunner MT ; et al. (2019)
A second KRT71 allele in curly coated dogs.
1 Additional References
GP00002231
Krt71
Q9R0H5
Morphology
c.1266_1273delinsACA p.Ser422ArgfsTer?
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
KRT71
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
KRT75L4
Feathers
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Guo X; Li YQ; Wang MS ; et al. (2018)
A parallel mechanism underlying frizzle in domestic chickens.
GP00002334
KRT75L4
A0A1L1RKR4
Morphology
15bp deletion resulting in loss of 5 conserved amino-acids
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
KRT75L4
Gallus gallus
chicken - (species)
Published - Accepted by Curator
KUK
Root development
2 Mutations:
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Meijón M; Satbhai SB; Tsuchimatsu T ; et al. (2014)
Genome-wide association study using cellular traits identifies a new regulator of root development i[...]
GP00001233
At1g60370
O80758
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
KUK
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Linkage Mapping
Enattah NS; Sahi T; Savilahti E ; et al. (2002)
Identification of a variant associated with adult-type hypolactasia.
1 Additional References
GP00000529
LCT
P09848
Physiology
C-13910T
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
GP00000530
LCT
P09848
Physiology
C-13907G
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
GP00000531
LCT
P09848
Physiology
T-13915G
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
1 Additional References
GP00000532
LCT
P09848
Physiology
G14010C ; In Khoe Pastoralist group lactase persistence (LP)-regulatory region 2 SNPs with greatest frequencies 13910C>T and 14010G>C
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Jones BL; Raga TO; Liebert A ; et al. (2013)
Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep.
1 Additional References
GP00001714
LCT
P09848
Physiology
T14009G (rs869051967) (ss 820486563)
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactate dehydrogenase-B (Ldh-B)
Stress response
Cis-regulatory,
Unknown
Fundulus heteroclitus
mummichog - (species)
Intraspecific
Linkage Mapping
Schulte PM; Glemet HC; Fiebig AA ; et al. (2000)
Adaptive variation in lactate dehydrogenase-B gene expression: role of a stress-responsive regulator[...]
GP00000533
ldhb
P20373
Physiology
unknown - candidate 1 bp change in southern populatin generates mammary tumor virus glucocorticoid responsive element
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species)
lactate dehydrogenase-B (Ldh-B)
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
lbh (limb bud and heart homolog)
Cranio-facial morphology (mandible)
Coding,
SNP
Labeotropheus fuelleborni
blue mbuna - (species) D
Interspecific
Linkage Mapping
Powder KE; Cousin H; McLinden GP ; et al. (2014)
A nonsynonymous mutation in the transcriptional regulator lbh is associated with cichlid craniofacia[...]
GP00001387
LBH
Q53QV2
Morphology
G>A p.R17Q
Maylandia zebra
zebra mbuna - (species)
Labeotropheus fuelleborni
blue mbuna - (species) D
lbh (limb bud and heart homolog)
Labeotropheus fuelleborni
blue mbuna - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002655
lectin-24A
Q9VQU4
Physiology
A cis-regulatory polymorphism in the gene Lectin-24A abolishes expression after infection and strongly reduces survival. 21bp indel (c.-171_-151del)
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
LeSPL-CNR
Fruit ripening
Cis-regulatory,
Epigenetic Change
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Manning K; Tör M; Poole M ; et al. (2006)
A naturally occurring epigenetic mutation in a gene encoding an SBP-box transcription factor inhibit[...]
GP00000539
101256245
Q0PY35
Physiology
Stable methylation in a 286bp region of the promoter
Solanum cheesmaniae
(species)
Solanum lycopersicum
tomato - (species) D
LeSPL-CNR
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Lethal Hybrid rescue
Hybrid incompatibility (F1 male lethality)
Coding,
Insertion
Drosophila simulans
(species) D
Interspecific
Linkage Mapping
Brideau NJ; Flores HA; Wang J ; et al. (2006)
Two Dobzhansky-Muller genes interact to cause hybrid lethality in Drosophila.
2 Additional References
GP00000540
Lhr
Q95RV3
Physiology
16a.a. insertion with effect in sensitive background only (Maheshwari and Barbash 2012)
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species) D
Lethal Hybrid rescue
Drosophila simulans
(species)
Published - Accepted by Curator
Lethal Hybrid rescue
Hybrid incompatibility (F1 male lethality)
Coding,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Maheshwari S; Barbash DA (2012)
An indel polymorphism in the hybrid incompatibility gene lethal hybrid rescue of Drosophila is funct[...]
GP00000541
Lhr
Q95RV3
Physiology
Coding divergence in a conserved stretch of 10 C-terminal amino-acids
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Lethal Hybrid rescue
Drosophila simulans
(species)
Published - Accepted by Curator
LIGHT AREAS1 (LAR1)
Coloration (flowers)
Cis-regulatory,
Unknown
Erythranthe lewisii
(species)
Interspecific
Linkage Mapping
Yuan YW; Rebocho AB; Sagawa JM ; et al. (2016)
Competition between anthocyanin and flavonol biosynthesis produces spatial pattern variation of flor[...]
GP00000543
LAR1
A0A0S2T0F2
Morphology
unknown
Erythranthe lewisii
(species)
Erythranthe lewisii
(species)
LIGHT AREAS1 (LAR1)
Erythranthe lewisii
(species)
Published - Accepted by Curator
lin-48
Excretory duct position
4 Mutations:
Cis-regulatory
Unknown
Caenorhabditis elegans
(species) D
Interspecific
Candidate Gene
Wang X; Chamberlin HM (2002)
Multiple regulatory changes contribute to the evolution of the Caenorhabditis lin-48 ovo gene.
1 Additional References
GP00000544
lin-48
G5EDU6
Morphology
4 mutations
Caenorhabditis briggsae
(species)
Caenorhabditis remanei
(species)
Caenorhabditis japonica
(species)
Caenorhabditis elegans
(species) D
lin-48
Caenorhabditis elegans
(species)
Published - Accepted by Curator
lncRNA:Hsr omega
Temperature tolerance
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
McKechnie SW; Halford MM; McColl G ; et al. (1998)
Both allelic variation and expression of nuclear and cytoplasmic transcripts of Hsr-omega are closel[...]
1 Additional References
GP00001999
Physiology
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
lncRNA:Hsr omega
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
LOC105383139
Courtship behavior
Other,
Insertion
Lepidoptera
butterflies and moths - (order) D
Intergeneric or Higher
Association Mapping
Li Y; Liu Z; Liu C ; et al. (2022)
HGT is widespread in insects and contributes to male courtship in lepidopterans.
GP00002412
Behavior
Horizontal Gene Transfer from Listeria bacteria to Lepidoptera of an entire gene coding region. The gene contains an alcohol dehydrogenase domain and a zinc-binding dehydrogenase domain.
Trichoptera
caddisflies - (order)
Lepidoptera
butterflies and moths - (order) D
LOC105383139
Lepidoptera
butterflies and moths - (order)
Published - Accepted by Curator
LPAR1
Hematopoiesis (blood monocyte count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001612
LPAR1
Q92633
Physiology
A>G at the associated SNP. 2 variants located in an uncharacterized long noncoding RNA
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LPAR1
Homo sapiens
human - (species)
Published - Accepted by Curator
Lr21
Pathogen resistance
Coding,
Complex Change
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Huang L; Brooks S; Li W ; et al. (2009)
Evolution of new disease specificity at a simple resistance locus in a crop-weed complex: reconstitu[...]
GP00000551
C5ID17
Physiology
Novel pathogen specificity resulting from chimerism of the parental alleles after intragenic recombination
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Lr21
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Lr67
Pathogen resistance (rust ; mildew)
Coding,
SNP
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Moore JW; Herrera-Foessel S; Lan C ; et al. (2015)
A recently evolved hexose transporter variant confers resistance to multiple pathogens in wheat.
GP00001535
A0A0S1LH45
Physiology
Gly144Arg (exon 2) leads to a protein incapable of glucose import; LR67res exerts a dominant-negative effect through heterodimerization with these functional transporters to reduce glucose uptake.; alterations in hexose transport in infected leaves may explain its ability to reduce the growth of multiple biotrophic pathogen species
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
Lr67
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intergeneric or Higher
Candidate Gene
Wood KV; Lam YA; Seliger HH ; et al. (1989)
Complementary DNA coding click beetle luciferases can elicit bioluminescence of different colors.
GP00000552
P08659
Physiology
several nucleotide substitutions leading to several amino acid changes -exact amino acid changes unknown
Photinus pyralis
common eastern firefly - (species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intraspecific
Candidate Gene
Stolz U; Velez S; Wood KV ; et al. (2003)
Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle.
2 Additional References
GP00000553
P08659
Physiology
T739G and C740G in exon 4; leading to one amino acid change - colour difference between the yellow- and orange-emitting luciferases is due entirely to S247G
Pyrophorus plagiophthalamus
(species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
2 Mutations:
Coding
SNP
Pyrophorus plagiophthalamus
(species)
Intraspecific
Candidate Gene
Stolz U; Velez S; Wood KV ; et al. (2003)
Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle.
2 Additional References
GP00000554
P08659
Physiology
2 mutations
Pyrophorus plagiophthalamus
(species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intraspecific
Candidate Gene
Stolz U; Velez S; Wood KV ; et al. (2003)
Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle.
2 Additional References
GP00001758
P08659
Physiology
exact causing amino acid change(s) unknown
Pyrophorus plagiophthalamus
(species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
LY86
Body fat distribution (visceral/subcutaneous ratio)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001562
LY86
O95711
Physiology
A>T in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LY86
Homo sapiens
human - (species)
Published - Accepted by Curator
LYPLAL1
Body fat distribution (visceral/subcutaneous ratio)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001561
LYPLAL1
Q5VWZ2
Physiology
T>C in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LYPLAL1
Homo sapiens
human - (species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
5 Mutations:
Coding
SNP
Opisthocomus hoazin
(species) D
Intergeneric or Higher
Candidate Gene
Kornegay JR; Schilling JW; Wilson AC (1994)
Molecular adaptation of a leaf-eating bird: stomach lysozyme of the hoatzin.
GP00000556
LYZ1
P04421
Physiology
5 mutations
Aves
birds - (class)
Opisthocomus hoazin
(species) D
lysozyme
Opisthocomus hoazin
(species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
5 Mutations:
Coding
SNP
Bos taurus
cattle - (species)
Intergeneric or Higher
Candidate Gene
Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2)
Adaptive evolution in the stomach lysozymes of foregut fermenters.
1 Additional References
GP00000557
LYZ1
P04421
Physiology
5 mutations
Mammalia
mammals - (class)
Bos taurus
cattle - (species)
lysozyme
Bos taurus
cattle - (species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
5 Mutations:
Coding
SNP
Colobinae
(subfamily)
Intergeneric or Higher
Candidate Gene
Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2)
Adaptive evolution in the stomach lysozymes of foregut fermenters.
3 Additional References
GP00000558
LYZ1
P04421
Physiology
5 mutations
Primates
(order)
Colobinae
(subfamily)
lysozyme
Colobinae
(subfamily)
Published - Accepted by Curator
M
Pathogen resistance
Coding,
Deletion
Linum usitatissimum
flax - (species) D
Intraspecific
Linkage Mapping
Anderson PA; Lawrence GJ; Morrish BC ; et al. (1997)
Inactivation of the flax rust resistance gene M associated with loss of a repeated unit within the l[...]
GP00000559
P93244
Physiology
426bp deletion, probably by unequal recombination
Linum usitatissimum
flax - (species)
Linum usitatissimum
flax - (species) D
M
Linum usitatissimum
flax - (species)
Published - Accepted by Curator
MADS AFFECTING FLOWERING 2 (MAF2)
Flowering time
Cis-regulatory,
Insertion
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Rosloski SM; Jali SS; Balasubramanian S ; et al. (2010)
Natural diversity in flowering responses of Arabidopsis thaliana caused by variation in a tandem gen[...]
GP00000561
MAF2
Q84J38
Physiology
Insertion alleles - several
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
MADS AFFECTING FLOWERING 2 (MAF2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001303
PMA1
P05030
Physiology
C>G (Gly > Arg) @ position 250
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001304
PMA1
P05030
Physiology
C>T (Val > Ile) @ position 1120
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MAM3
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001305
PMA1
P05030
Physiology
C>T (Ser > Asn) @ position 806
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MAM3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MAP4K4
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Unknown,
Unknown
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Linkage Mapping
Guo Z; Kang S; Chen D ; et al. (2015)
MAPK signaling pathway alters expression of midgut ALP and ABCC genes and causes resistance to Bacil[...]
GP00001673
MAP4K4
O95819
Physiology
MAP4K4 constitutively up-regulated leading to up-regulated PxABCC1 and down-regulated PxABCC2 and PxABCC3 and reduction of membrane-bound ALP (mALP) expression responsible for reduced Cry1Ac toxin binding to midgut proteins
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
MAP4K4
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
MC1R
Coloration (albinism)
Coding,
SNP
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Gross JB; Borowsky R; Tabin CJ (2009)
A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]
GP00000568
MC1R
Q01726
Morphology
Arg164Cys (position 160 in human; so this mutation resembles the human R160W hypomorphic human mutation)
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
MC1R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
2 Mutations:
Coding
SNP
Vulpes lagopus
Arctic fox - (species)
Interspecific
Candidate Gene
Våge DI; Fuglei E; Snipstad K ; et al. (2005)
Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...]
1 Additional References
GP00000569
MC1R
Q01726
Morphology
2 mutations
Vulpes vulpes
red fox - (species)
Vulpes lagopus
Arctic fox - (species)
MC1R
Vulpes lagopus
Arctic fox - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Klungland H; Våge DI; Gomez-Raya L ; et al. (1995)
The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.
GP00000572
MC1R
Q01726
Morphology
L99P ; presumably constitutively active - g.14757910T>C c.296T>C p.L99P
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MC1R
Bos taurus
cattle - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Newton JM; Wilkie AL; He L ; et al. (2000)
Melanocortin 1 receptor variation in the domestic dog.
1 Additional References
GP00000573
MC1R
Q01726
Morphology
R306ter; deletes 12 of 17 a.a. from C-terminus
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Ellinwood NM ; et al. (2003 Jan-Feb)
MC1R studies in dogs with melanistic mask or brindle patterns.
GP00000574
MC1R
Q01726
Morphology
M264V
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000576
MC1R
Q01726
Morphology
R18C
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000577
MC1R
Q01726
Morphology
R109W
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000578
MC1R
Q01726
Morphology
R160W
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000579
MC1R
Q01726
Morphology
Q233H
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species)
Intraspecific
Candidate Gene
Marklund L; Moller MJ; Sandberg K ; et al. (1996)
A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated wit[...]
1 Additional References
GP00000580
MC1R
Q01726
Morphology
S83F
Equus caballus
horse - (species)
Equus caballus
horse - (species)
MC1R
Equus caballus
horse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Puma yagouaroundi
jaguarundi - (species) D
Intraspecific
Candidate Gene
Eizirik E; Yuhki N; Johnson WE ; et al. (2003)
Molecular genetics and evolution of melanism in the cat family.
GP00000581
MC1R
Q01726
Morphology
Deletion of aa 95-102
Puma yagouaroundi
jaguarundi - (species)
Puma yagouaroundi
jaguarundi - (species) D
MC1R
Puma yagouaroundi
jaguarundi - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus poschiavinus
(species)
Interspecific
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000583
MC1R
Q01726
Morphology
S69L
Mus musculus
house mouse - (species)
Mus poschiavinus
(species)
MC1R
Mus poschiavinus
(species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000584
MC1R
Q01726
Morphology
E92K
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000585
MC1R
Q01726
Morphology
L98P
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Candidate Gene
Wada A; Kunieda T; Nishimura M ; et al. (2005 Mar-Apr)
A nucleotide substitution responsible for the tawny coat color mutation carried by the MSKR inbred s[...]
GP00000586
MC1R
Q01726
Morphology
W252C
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
Deletion
Numida meleagris
helmeted guineafowl - (species) D
Domesticated
Candidate Gene
Vidal O; Araguas RM; Fernández E ; et al. (2010)
Melanism in guinea fowl (Numida meleagris) is associated with a deletion of Phenylalanine-256 in the[...]
GP00000587
MC1R
Q01726
Morphology
Phe256del
Numida meleagris
helmeted guineafowl - (species)
Numida meleagris
helmeted guineafowl - (species) D
MC1R
Numida meleagris
helmeted guineafowl - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Tazzoli M; Beretti F ; et al. (2006)
Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]
GP00000588
MC1R
Q01726
Morphology
6bp in-frame del of 94-95
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
MC1R
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Tazzoli M; Beretti F ; et al. (2006)
Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]
GP00000589
MC1R
Q01726
Morphology
30bp in-frame del of 102-111
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
MC1R
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Scotti E; Colombo M ; et al. (2010)
A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with t[...]
GP00000590
MC1R
Q01726
Morphology
6bp in frame deletion c.[124G>A;125_130del6] + L44T (homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits )
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
MC1R
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
Våge DI; Klungland H; Lu D ; et al. (1999)
Molecular and pharmacological characterization of dominant black coat color in sheep.
1 Additional References
GP00000591
MC1R
Q01726
Morphology
D121N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
MC1R
Ovis aries
sheep - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
Våge DI; Klungland H; Lu D ; et al. (1999)
Molecular and pharmacological characterization of dominant black coat color in sheep.
1 Additional References
GP00000592
MC1R
Q01726
Morphology
M73K
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
MC1R
Ovis aries
sheep - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Panthera onca
jaguar - (species) D
Intraspecific
Candidate Gene
Eizirik E; Yuhki N; Johnson WE ; et al. (2003)
Molecular genetics and evolution of melanism in the cat family.
GP00000593
MC1R
Q01726
Morphology
Deletion of aa 101-105 and L106T
Panthera onca
jaguar - (species)
Panthera onca
jaguar - (species) D
MC1R
Panthera onca
jaguar - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Linkage Mapping
Hoekstra HE; Hirschmann RJ; Bundey RA ; et al. (2006)
A single amino acid mutation contributes to adaptive beach mouse color pattern.
GP00000594
MC1R
Q01726
Morphology
R65C
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
MC1R
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Rattus rattus
black rat - (species)
Interspecific
Candidate Gene
Kambe Y; Tanikawa T; Matsumoto Y ; et al. (2011)
Origin of agouti-melanistic polymorphism in Wild Black Rats (Rattus rattus) inferred from Mc1r gene [...]
GP00000595
MC1R
Q01726
Morphology
Glu93Lys
Rattus tanezumi
Oriental house rat - (species)
Rattus rattus
black rat - (species)
MC1R
Rattus rattus
black rat - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Sciurus carolinensis
gray squirrel - (species) D
Sciurus niger
fox squirrel - (species) D
Intraspecific
Candidate Gene
McRobie H; Thomas A; Kelly J (2009 Nov-Dec)
The genetic basis of melanism in the gray squirrel (Sciurus carolinensis).
1 Additional References
GP00000596
MC1R
Q01726
Morphology
Deletion of 8 a.a.
Sciurus carolinensis
gray squirrel - (species)
Sciurus niger
fox squirrel - (species)
Sciurus carolinensis
gray squirrel - (species) D
Sciurus niger
fox squirrel - (species) D
MC1R
Sciurus carolinensis
gray squirrel - (species)
Sciurus niger
fox squirrel - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Ursus americanus
American black bear - (species)
Intraspecific
Candidate Gene
Ritland K; Newton C; Marshall HD (2001)
Inheritance and population structure of the white-phased "Kermode" black bear.
GP00000597
MC1R
Q01726
Morphology
Y298C
Ursus americanus
American black bear - (species)
Ursus americanus
American black bear - (species)
MC1R
Ursus americanus
American black bear - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Vulpes vulpes
red fox - (species)
Domesticated
Candidate Gene
Våge DI; Lu D; Klungland H ; et al. (1997)
A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes.
1 Additional References
GP00000598
MC1R
Q01726
Morphology
C125R; constitutively active receptor
Vulpes vulpes
red fox - (species)
Vulpes vulpes
red fox - (species)
MC1R
Vulpes vulpes
red fox - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Anser caerulescens
snow goose - (species)
Intraspecific
Candidate Gene
Mundy NI; Badcock NS; Hart T ; et al. (2004)
Conserved genetic basis of a quantitative plumage trait involved in mate choice.
GP00000599
MC1R
Q01726
Morphology
V85M
Anser caerulescens
snow goose - (species)
Anser caerulescens
snow goose - (species)
MC1R
Anser caerulescens
snow goose - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Coereba flaveola
Bananaquit - (species) D
Intraspecific
Candidate Gene
Theron E; Hawkins K; Bermingham E ; et al. (2001)
The molecular basis of an avian plumage polymorphism in the wild: a melanocortin-1-receptor point mu[...]
GP00000600
MC1R
Q01726
Morphology
E92K
Coereba flaveola
Bananaquit - (species)
Coereba flaveola
Bananaquit - (species) D
MC1R
Coereba flaveola
Bananaquit - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species)
Domesticated
Candidate Gene
Guernsey MW; Ritscher L; Miller MA ; et al. (2013)
A Val85Met mutation in melanocortin-1 receptor is associated with reductions in eumelanic pigmentati[...]
GP00000601
MC1R
Q01726
Morphology
Val85Met (G253A)
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species)
MC1R
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Nadeau NJ; Minvielle F; Mundy NI (2006)
Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japon[...]
GP00000602
MC1R
Q01726
Morphology
E92K
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
MC1R
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
Deletion
Falco eleonorae
(species) D
Intraspecific
Candidate Gene
Gangoso L; Grande JM; Ducrest AL ; et al. (2011)
MC1R-dependent, melanin-based colour polymorphism is associated with cell-mediated response in the E[...]
GP00000603
MC1R
Q01726
Morphology
Deletion of 3 a.a.
Falco eleonorae
(species)
Falco eleonorae
(species) D
MC1R
Falco eleonorae
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Falco rusticolus
gyrfalcon - (species)
Intraspecific
Candidate Gene
Johnson JA; Ambers AD; Burnham KK (2012 May-Jun)
Genetics of plumage color in the Gyrfalcon (Falco rusticolus): analysis of the melanocortin-1 recept[...]
GP00000604
MC1R
Q01726
Morphology
Val128Ile
Falco rusticolus
gyrfalcon - (species)
Falco rusticolus
gyrfalcon - (species)
MC1R
Falco rusticolus
gyrfalcon - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers; eyes)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
2 Additional References
GP00000605
MC1R
Q01726
Morphology
E92K; constitutive activation
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
GP00000606
MC1R
Q01726
Morphology
C33W
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
GP00000607
MC1R
Q01726
Morphology
D37G
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
GP00000608
MC1R
Q01726
Morphology
L244P
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Kerje S; Lind J; Schütz K ; et al. (2003)
Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken.
1 Additional References
GP00000609
MC1R
Q01726
Morphology
H215P
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Malurus leucopterus
white-winged fairy-wren - (species)
Intraspecific
Candidate Gene
Doucet SM; Shawkey MD; Rathburn MK ; et al. (2004)
Concordant evolution of plumage colour, feather microstructure and a melanocortin receptor gene betw[...]
GP00000610
MC1R
Q01726
Morphology
A16T caused by guanine-to-adenine (G_A) transition at site 46; and/or I38N cause by a tyrosine-to-adenine (T_A) transition at site 113; and/or V11N caused by a G_A transition at site 331; and/or Q157R caused by an A_G substitution at site 470; Val166Ileu - exact causing amino acid change(s) unknown
Malurus leucopterus
white-winged fairy-wren - (species)
Malurus leucopterus
white-winged fairy-wren - (species)
MC1R
Malurus leucopterus
white-winged fairy-wren - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Stercorarius parasiticus
(species)
Intraspecific
Candidate Gene
Mundy NI; Badcock NS; Hart T ; et al. (2004)
Conserved genetic basis of a quantitative plumage trait involved in mate choice.
GP00000611
MC1R
Q01726
Morphology
R230H
Stercorarius parasiticus
(species)
Stercorarius parasiticus
(species)
MC1R
Stercorarius parasiticus
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Sula leucogaster
(species)
Intraspecific
Candidate Gene
Baião PC; Parker PG (2012 May-Jun)
Evolution of the melanocortin-1 receptor (MC1R) in Boobies and Gannets (Aves, Suliformes).
GP00000612
MC1R
Q01726
Morphology
R112H
Sula leucogaster
(species)
Sula leucogaster
(species)
MC1R
Sula leucogaster
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Sula sula
red-footed booby - (species)
Intraspecific
Candidate Gene
Baião PC; Schreiber E; Parker PG (2007 Jul-Aug)
The genetic basis of the plumage polymorphism in red-footed boobies (Sula sula): a melanocortin-1 re[...]
GP00000613
MC1R
Q01726
Morphology
V85M and/or H207R; current data cannot determine which one or if both these substitutions are underlying the phenotypic variation
Sula sula
red-footed booby - (species)
Sula sula
red-footed booby - (species)
MC1R
Sula sula
red-footed booby - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
1 Additional References
GP00000615
MC1R
Q01726
Morphology
R151C
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
1 Additional References
GP00000616
MC1R
Q01726
Morphology
D294H
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
1 Additional References
GP00000617
MC1R
Q01726
Morphology
R160W
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Box NF; Wyeth JR; O'Gorman LE ; et al. (1997)
Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.
3 Additional References
GP00000618
MC1R
Q01726
Morphology
Val60Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000619
MC1R
Q01726
Morphology
Asp84Glu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000620
MC1R
Q01726
Morphology
Val92Met
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000621
MC1R
Q01726
Morphology
Arg142His
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000622
MC1R
Q01726
Morphology
Arg151Cys
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000623
MC1R
Q01726
Morphology
Ile155Thr
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000624
MC1R
Q01726
Morphology
Arg160Trp
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000625
MC1R
Q01726
Morphology
Arg163Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000626
MC1R
Q01726
Morphology
Asp294His
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Aspidoscelis inornatus
Little striped whiptail - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Hoekstra HE; Nachman MW (2004)
Adaptive reptile color variation and the evolution of the Mc1r gene.
1 Additional References
GP00000627
MC1R
Q01726
Morphology
I170T
Aspidoscelis inornatus
Little striped whiptail - (species)
Aspidoscelis inornatus
Little striped whiptail - (species)
MC1R
Aspidoscelis inornatus
Little striped whiptail - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Holbrookia maculata
lesser earless lizard - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Hoekstra HE; Nachman MW (2004)
Adaptive reptile color variation and the evolution of the Mc1r gene.
1 Additional References
GP00000628
MC1R
Q01726
Morphology
V168I; but failed functional validation in Rosenblum et al. 2010
Holbrookia maculata
lesser earless lizard - (species)
Holbrookia maculata
lesser earless lizard - (species)
MC1R
Holbrookia maculata
lesser earless lizard - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Sceloporus undulatus
fence lizard - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Römpler H; Schöneberg T ; et al. (2010)
Molecular and functional basis of phenotypic convergence in white lizards at White Sands.
GP00000629
MC1R
Q01726
Morphology
H208Y
Sceloporus undulatus
fence lizard - (species)
Sceloporus undulatus
fence lizard - (species)
MC1R
Sceloporus undulatus
fence lizard - (species)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007)
A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.
GP00000630
MC1R
Q01726
Morphology
Arg307Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000632
MC1R
Q01726
Morphology
V"92"M actually at 95
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000633
MC1R
Q01726
Morphology
D"121"N Actually 124
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000634
MC1R
Q01726
Morphology
A"161"V actually 164
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000635
MC1R
Q01726
Morphology
L"99" P Actually 102
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000636
MC1R
Q01726
Morphology
A"240"T actually 243
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gustafson NA; Gandolfi B; Lyons LA (2017)
Not another type of potato: MC1R and the russet coloration of Burmese cats.
GP00001330
MC1R
Q01726
Morphology
3bp deletion at c.439-441del (p.Phe146del)
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
MC1R
Felis catus
domestic cat - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Monarcha castaneiventris
Makira monarch - (species) D
Intraspecific
Association Mapping
Uy JA; Cooper EA; Cutie S ; et al. (2016)
Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]
GP00001333
MC1R
Q01726
Morphology
Asp119Asn
Monarcha castaneiventris
Makira monarch - (species)
Monarcha castaneiventris
Makira monarch - (species) D
MC1R
Monarcha castaneiventris
Makira monarch - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012)
Strong signatures of selection in the domestic pig genome.
1 Additional References
GP00001337
MC1R
Q01726
Morphology
c.G>A p.Asp124Asn
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Arctocephalus gazella
antarctic fur seal - (species) D
Intraspecific
Candidate Gene
Norris BJ; Whan VA (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]
GP00001338
MC1R
Q01726
Morphology
c.C>T p.Ser291Phe
Arctocephalus gazella
antarctic fur seal - (species)
Arctocephalus gazella
antarctic fur seal - (species) D
MC1R
Arctocephalus gazella
antarctic fur seal - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Tyto alba
Barn owl - (species) D
Intraspecific
Candidate Gene
San-Jose LM; Ducrest AL; Ducret V ; et al. (2015)
Effect of the MC1R gene on sexual dimorphism in melanin-based colorations.
3 Additional References
GP00001339
MC1R
Q01726
Morphology
p.Val126Ile
Tyto alba
Barn owl - (species)
Tyto alba
Barn owl - (species) D
R
MC1R
Tyto alba
Barn owl - (species)
Reviewed
September 26, 2019 17:00
MC1R
Coloration (coat)
2 Mutations:
Coding
SNP
Rangifer tarandus
reindeer - (species) D
Domesticated
Candidate Gene
Våge DI; Nieminen M; Anderson DG ; et al. (2014)
Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral c[...]
GP00001350
Mc1r
Q01727
Morphology
2 mutations
Rangifer tarandus
reindeer - (species)
Rangifer tarandus
reindeer - (species) D
MC1R
Rangifer tarandus
reindeer - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Abitbol M; Legrand R; Tiret L (2014)
A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys.
GP00001351
Mc1r
Q01727
Morphology
c.629T>C p.Met210Thr
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
MC1R
Equus asinus
ass - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Anas platyrhynchos
mallard - (species) D
Domesticated
Candidate Gene
Yu W; Wang C; Xin Q ; et al. (2013)
Non-synonymous SNPs in MC1R gene are associated with the extended black variant in domestic ducks (A[...]
GP00001352
Mc1r
Q01727
Morphology
c.52G>A p.Glu18Lys
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
MC1R
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Fontanesi L; Beretti F; Riggio V ; et al. (2009)
Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: ass[...]
GP00001353
Mc1r
Q01727
Morphology
c.801C>G p.Cys267Trp
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
MC1R
Capra hircus
goat - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Stercorarius parasiticus
(species)
Intraspecific
Candidate Gene
Janssen K; Mundy NI (2013)
Molecular population genetics of the melanic plumage polymorphism in Arctic skuas (Stercorarius para[...]
GP00001355
Mc1r
Q01727
Morphology
Melanic and nonmelanic haplotypes in the Arctic skua are defined by three amino acid changes: nonmelanic: His8-Glu12-Arg230; melanic: Arg8-Lys12-His230. The effect of each single amino acid change has not been tested
Stercorarius parasiticus
(species)
Stercorarius parasiticus
(species)
MC1R
Stercorarius parasiticus
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
3 Mutations:
Coding
SNP
Ramphastos dicolorus
(species) D
Ramphastos vitellinus
(species) D
Ramphastos tucanus
(species) D
Ramphastos toco
(species) D
Interspecific
Candidate Gene
Corso J; Mundy NI; Fagundes NJ ; et al. (2016)
Evolution of dark colour in toucans (Ramphastidae): a case of molecular adaptation?
GP00001367
Mc1r
Q01727
Morphology
3 mutations
Ramphastidae
(family)
Ramphastos dicolorus
(species) D
Ramphastos vitellinus
(species) D
Ramphastos tucanus
(species) D
Ramphastos toco
(species) D
MC1R
Ramphastos dicolorus
(species)
Ramphastos vitellinus
(species)
Ramphastos tucanus
(species)
Ramphastos toco
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Calidris pugnax
ruff - (species) D
Intraspecific
Association Mapping
Lamichhaney S; Fan G; Widemo F ; et al. (2016)
Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pug[...]
1 Additional References
GP00001466
MC1R
Q01726
Morphology
Several amino acid changes. The His207Arg substitution most likely has functional consequences because the same variant is associated with light color in the red-footed booby.
Calidris pugnax
ruff - (species)
Calidris pugnax
ruff - (species) D
MC1R
Calidris pugnax
ruff - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Leopardus geoffroyi
Geoffroy's cat - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001733
MC1R
Q01726
Morphology
All melanistic individuals were heterozygous for four variants that predicted three nonsynonymous substitutions, p.C125R, p.T177I, and p.G194S - In the laboratory mouse a Cys to Arg substitution at the site homologous to felid residue 125 causes constitutive activation of the receptor and the exact same change is thought to be responsible for melanism in the Alaska silver fox - therefore C125R is considered to be the likely causative alteration in the Geoffroy’s cat.
Leopardus geoffroyi
Geoffroy's cat - (species)
Leopardus geoffroyi
Geoffroy's cat - (species) D
MC1R
Leopardus geoffroyi
Geoffroy's cat - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Candidate Gene
Vidal O; Viñas J; Pla C (2010)
Variability of the melanocortin 1 receptor (MC1R) gene explains the segregation of the bronze locus [...]
GP00002299
MC1R
Q01726
Morphology
c.364A>T p.I122F
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
MC1R
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
MC1R
Coloration (feathers)
2 Mutations:
Coding
SNP
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Candidate Gene
Vidal O; Viñas J; Pla C (2010)
Variability of the melanocortin 1 receptor (MC1R) gene explains the segregation of the bronze locus [...]
GP00002300
MC1R
Q01726
Morphology
2 mutations
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
MC1R
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Cis-regulatory,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Dürig N; Letko A; Lepori V ; et al. (2018)
Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.
GP00002302
MC1R
Q01726
Morphology
single nucleotide variant within the MITF binding site of the canine MC1R promoter
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (feathers; eyes)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Dávila SG; Gil MG; Resino-Talaván P ; et al. (2014)
Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color pheno[...]
GP00002390
MC1R
Q01726
Morphology
the Arg213Cys mutation may be the cause of the loss or the decrease of function of the receptor to produce eumelanin
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC4R
Feeding behavior
Coding,
SNP
Astyanax mexicanus
Mexican tetra - (species)
Intraspecific
Linkage Mapping
Aspiras AC; Rohner N; Martineau B ; et al. (2015)
Melanocortin 4 receptor mutations contribute to the adaptation of cavefish to nutrient-poor conditio[...]
GP00000637
mc4r
B0V1P1
Behavior
Gly145Ser (candidate mutation)
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species)
MC4R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MC4R
Sexual maturation (onset)
Gene Amplification,
Complex Change
Xiphophorus maculatus
southern platyfish - (species)
Intraspecific
Linkage Mapping
Lampert KP; Schmidt C; Fischer P ; et al. (2010)
Determination of onset of sexual maturation and mating behavior by melanocortin receptor 4 polymorph[...]
GP00000638
mc4r
B0V1P1
Physiology
unknown in the species used in crosses but a strong coreelation of gene copy number is found with the phenotype in two closely related species
Xiphophorus maculatus
southern platyfish - (species)
Xiphophorus maculatus
southern platyfish - (species)
MC4R
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
MCO
Metal tolerance (copper)
Gene Amplification,
Insertion
Erythranthe guttata
spotted monkey flower - (species) D
Intraspecific
Linkage Mapping
Wright KM; Lloyd D; Lowry DB ; et al. (2013)
Indirect evolution of hybrid lethality due to linkage with selected locus in Mimulus guttatus.
1 Additional References
GP00001814
LPR2
Q949X9
Physiology
several recent tandem duplications of this gene are responsible for the 12x increase in expression observed in copper tolerant lines - 6X fold enrichment of aligned reads at MCO
Erythranthe guttata
spotted monkey flower - (species)
Erythranthe guttata
spotted monkey flower - (species) D
MCO
Erythranthe guttata
spotted monkey flower - (species)
Published - Accepted by Curator
MDR1
Xenobiotic resistance
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Kimchi-Sarfaty C; Oh JM; Kim IW ; et al. (2007)
A "silent" polymorphism in the MDR1 gene changes substrate specificity.
GP00001858
ABCB1
P08183
Physiology
C3435T - synonymous mutation Ile - The SNP at position 26/3435 that changes the codon from ATC to ATT (Ile) reduces the codon usage from 47% to 35% (RSCU values change from 20.9 to 15.8). Leads to similar mRNA and protein levels but altered conformation of the protein.
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MDR1
Homo sapiens
human - (species)
Published - Accepted by Curator
MDS3
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000641
MDS3
P53094
Physiology
Phe - Val substitution
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MDS3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Bauer A; Kehl A; Jagannathan V ; et al. (2018)
A novel MLPH variant in dogs with coat colour dilution.
GP00000643
Mlph
Q91V27
Morphology
c.705G>C p.Gln235His
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Vaez M; Follett SA; Bed'hom B ; et al. (2008)
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phe[...]
GP00000645
Mlph
Q91V27
Morphology
c.103C>T p.R35W
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Melanophilin (MLPH)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Christensen K ; et al. (2013)
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
1 Additional References
GP00000647
Mlph
Q91V27
Morphology
Splice donor site variation in exon 8 resulting in a premature stop codon c.901+1G>A
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
Melanophilin (MLPH)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Oryctolagus
(genus) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00000649
Mlph
Q91V27
Morphology
c.111-5C>A (exon skipping resulting in frameshift and truncated protein)
Oryctolagus
(genus)
Oryctolagus
(genus) D
Melanophilin (MLPH)
Oryctolagus
(genus)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Linkage Mapping
Drögemüller C; Philipp U; Haase B ; et al. (2007)
A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal[...]
GP00002330
Mlph
Q91V27
Morphology
GA substitution at splice donor site causing Splicing defect
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MEP2
Salt tolerance (experimental evolution; low ammonium)
Other,
Complex Change
Saccharomyces uvarum
(species)
Experimental Evolution
Association Mapping
Dunn B; Paulish T; Stanbery A ; et al. (2013)
Recurrent rearrangement during adaptive evolution in an interspecific yeast hybrid suggests a model [...]
GP00000651
MEP2
P41948
Physiology
Chimeric gene in diploid hybrids formed by recombination between the parental alleles
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces uvarum
(species)
MEP2
Saccharomyces uvarum
(species)
Published - Accepted by Curator
metal tolerance protein1
Metal tolerance
Gene Amplification,
Complex Change
Arabidopsis halleri
(species) D
Interspecific
Linkage Mapping
Dräger DB; Desbrosses-Fonrouge AG; Krach C ; et al. (2004)
Two genes encoding Arabidopsis halleri MTP1 metal transport proteins co-segregate with zinc toleranc[...]
1 Additional References
GP00000652
MTP1
Q9ZT63
Physiology
Copy number Variant
Arabidopsis lyrata
(species)
Arabidopsis halleri
(species) D
metal tolerance protein1
Arabidopsis halleri
(species)
Published - Accepted by Curator
metallothionein (Mtn)
Metal tolerance
Gene Amplification,
Complex Change
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Otto E; Young JE; Maroni G (1986)
Structure and expression of a tandem duplication of the Drosophila metallothionein gene.
1 Additional References
GP00000653
MtnA
P04357
Physiology
Gene duplication
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
metallothionein (Mtn)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
metallothionein (MtnA)
Oxidative stress resistance
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Catalán A; Glaser-Schmitt A; Argyridou E ; et al. (2016)
An Indel Polymorphism in the MtnA 3' Untranslated Region Is Associated with Gene Expression Variatio[...]
GP00002018
MtnA
P04357
Physiology
49bp deletion in the MtnA 3'UTR
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
metallothionein (MtnA)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
metallothionein CUP1
Metal tolerance (copper)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001289
CUP1-1
P0CX80
Physiology
Gene duplication
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
metallothionein CUP1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Cis-regulatory,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Karlsson EK; Baranowska I; Wade CM ; et al. (2007)
Efficient mapping of mendelian traits in dogs through genome-wide association.
1 Additional References
GP00000657
Mitf
Q08874
Morphology
g.21836232_21836427ins>del - this SINE-insertion variant is the first of three possible regulatory variants described by Karlsson et al. (2007). Its genomic location and description were kindly provided by Professor Claire Wade in August 2018. OMIA 000214-9615
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Microphtalmia-associated transcription factor
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Cis-regulatory,
Insertion
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00000658
Mitf
Q08874
Morphology
11bp insertion in melanocyte-specific promoter; disrupting PAX3 binding site
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00000659
Mitf
Q08874
Morphology
c.629A>G N310S yielding defective DNA-binding
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (feathers)
Cis-regulatory,
Insertion
Anas platyrhynchos
mallard - (species) D
Domesticated
Linkage Mapping
Zhou Z; Li M; Cheng H ; et al. (2018)
An intercross population study reveals genes associated with body size and plumage color in ducks.
GP00002127
Mitf
Q08874
Morphology
6.6kb insertion between exon 1M and exon 2, leads to lower expression of isoform MITF M in pekin white ducks
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
Microphtalmia-associated transcription factor
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Dürig N; Jude R; Jagannathan V ; et al. (2017)
A novel MITF variant in a white American Standardbred foal.
GP00002323
Mitf
Q08874
Morphology
c.731G>A p.G244E
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor a (MITFA)
Coloration (amelanism)
Cis-regulatory,
Deletion
Betta splendens
Siamese fighting fish - (species) D
Domesticated
Linkage Mapping
Wang L; Sun F; Wan ZY ; et al. (2021)
Genomic Basis of Striking Fin Shapes and Colors in the Fighting Fish.
GP00002379
Q6P0E9NULL
Morphology
"Comparison between homozygous albino and wild-type pigmented fish revealed a cluster of indels and SNPs about 25 kb upstream of mitfa, including a 366-bp deletion in the albino mutant. Genotyping this deletion in ∼1,000 fish revealed that this deletion was strictly correlated with the albino phenotype (supplementary fig. S14 and table S9, Supplementary Material online). These data suggest that the 366-bp deletion is a distant cis-regulatory element and could underlie the albino phenotype."
Betta splendens
Siamese fighting fish - (species)
Betta splendens
Siamese fighting fish - (species) D
Microphtalmia-associated transcription factor a (MITFA)
Betta splendens
Siamese fighting fish - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Papio anubis
olive baboon - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001452
MAVS
Q7Z434
Physiology
Cys508Arg disrupting the protease cleavage site
Miopithecus talapoin
talapoin - (species)
Papio anubis
olive baboon - (species) D
Mitochondrial antiviral signaling (MAVS)
Papio anubis
olive baboon - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Macaca mulatta
Rhesus monkey - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001453
MAVS
Q7Z434
Physiology
Val506Gly resistant to cleavage
Miopithecus talapoin
talapoin - (species)
Macaca mulatta
Rhesus monkey - (species) D
Mitochondrial antiviral signaling (MAVS)
Macaca mulatta
Rhesus monkey - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Ateles geoffroyi
black-handed spider monkey - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001454
MAVS
Q7Z434
Physiology
Val506Ala resistant to cleavage
Lagothrix lagotricha
brown woolly monkey - (species)
Ateles geoffroyi
black-handed spider monkey - (species) D
Mitochondrial antiviral signaling (MAVS)
Ateles geoffroyi
black-handed spider monkey - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Plecturocebus moloch
red-bellied titi - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001455
MAVS
Q7Z434
Physiology
Val506Ala resistant to cleavage
Lagothrix lagotricha
brown woolly monkey - (species)
Plecturocebus moloch
red-bellied titi - (species) D
Mitochondrial antiviral signaling (MAVS)
Plecturocebus moloch
red-bellied titi - (species)
Published - Accepted by Curator
Mitochondrial antiviral signaling (MAVS)
Pathogen resistance (hepaciviruses)
Coding,
SNP
Allenopithecus nigroviridis
Allen's swamp monkey - (species) D
Interspecific
Candidate Gene
Patel MR; Loo YM; Horner SM ; et al. (2012)
Convergent evolution of escape from hepaciviral antagonism in primates.
GP00001456
MAVS
Q7Z434
Physiology
Val506Met less susceptible to cleavage
Erythrocebus patas
red guenon - (species)
Allenopithecus nigroviridis
Allen's swamp monkey - (species) D
Mitochondrial antiviral signaling (MAVS)
Allenopithecus nigroviridis
Allen's swamp monkey - (species)
Published - Accepted by Curator
mitochondrial tyrosine tRNA
Hybrid incompatibility (F1 hybrid viability; F1 hybrid sterility)
Coding,
SNP
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Meiklejohn CD; Holmbeck MA; Siddiq MA ; et al. (2013)
An Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises [...]
1 Additional References
GP00001971
Physiology
C to T mutation at the base of the anticodon stem, so that G:C becomes G:U in the folded mRNA (see Fig. 1 of Hoekstra et al 2013)
Drosophila simulans
(species)
Drosophila simulans
(species) D
mitochondrial tyrosine tRNA
Drosophila simulans
(species)
Published - Accepted by Curator
MITOGEN-ACTIVATED PROTEIN KINASE 12 (MPK12)
Ozone sensitivity (stomata opening and stomatal CO2-sensitivity)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Jakobson L; Vaahtera L; Tõldsepp K ; et al. (2016)
Natural Variation in Arabidopsis Cvi-0 Accession Reveals an Important Role of MPK12 in Guard Cell CO[...]
GP00001383
MPK12
Q8GYQ5
Physiology
G53R
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
MITOGEN-ACTIVATED PROTEIN KINASE 12 (MPK12)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MKT1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000662
MKT1
P40850
Physiology
D30G (reversion; functionally verified); evolved independently in 3 lines
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MKT1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MKT1
Temperature tolerance
Virulence
Sporulation efficiency
Sporulation efficiency
Xenobiotic resistance (alcohol; ethanol)
Xenobiotic resistance (genotoxic DNA-damage agent)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
5 Additional References
GP00000666
MKT1
P40850
Physiology
Physiology
Physiology
Physiology
Physiology
Physiology
G30D (functionally verified); or haplotype including G30D (functionally verified)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
MKT1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Mla1
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
3 Additional References
GP00000668
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain - exact amino acid change unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla1
Hordeum vulgare
(species)
Published - Accepted by Curator
Mla1
Pathogen resistance
Coding,
Unknown
Triticum monococcum
(species)
Domesticated
Candidate Gene
Halterman D; Zhou F; Wei F ; et al. (2001)
The MLA6 coiled-coil, NBS-LRR protein confers AvrMla6-dependent resistance specificity to Blumeria g[...]
1 Additional References
GP00000669
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain
Triticum monococcum
(species)
Triticum monococcum
(species)
Mla1
Triticum monococcum
(species)
Published - Accepted by Curator
Mla13
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
2 Additional References
GP00000670
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain - exact amino acid change unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla13
Hordeum vulgare
(species)
Published - Accepted by Curator
Mla6
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
2 Additional References
GP00000671
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain - exact amino acid change(s) unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla6
Hordeum vulgare
(species)
Published - Accepted by Curator
Mlana
Coloration (feathers ; white-spotting)
Gene Amplification,
Complex Change
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Bruders R; Van Hollebeke H; Osborne EJ ; et al. (2020)
A copy number variant is associated with a spectrum of pigmentation patterns in the rock pigeon (Col[...]
GP00002342
MLANA
Q16655
Morphology
CNV with 7 copies of the outer 77-kb segment and 14 copies of the inner 25-kb segment in the genomes of female (ZStW) Almond pigeons
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Mlana
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
MLO
Pathogen resistance
Gene Amplification,
Insertion
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Piffanelli P; Ramsay L; Waugh R ; et al. (2004)
A barley cultivation-associated polymorphism conveys resistance to powdery mildew.
GP00000672
MLO
P93766
Physiology
Tandem array duplication including promoter and partial CDS; resulting in loss-of-function by transcriptional interference
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
MLO
Hordeum vulgare
(species)
Published - Accepted by Curator
MNN4
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001711
MNN4
P36044
Physiology
Lys924Glu (A>G at position 64698 according to Table 1) - AAR to GAR position 64698
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MNN4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MNR2
Bird head comb
Fertility (sperm motility)
Gene Amplification,
Inversion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Imsland F; Feng C; Boije H ; et al. (2012)
The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb [...]
GP00000675
MNR2
Q9YHY8
Morphology
Physiology
7.4Mb inversion (and secondary structural re-arrangement in some individuals)
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
MNR2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Molybdenum transporter1 (MOT1)
Metal tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Baxter I; Muthukumar B; Park HC ; et al. (2008)
Variation in molybdenum content across broadly distributed populations of Arabidopsis thaliana is co[...]
1 Additional References
GP00000676
MOT1
Q9SL95
Physiology
53bp deletion in promoter
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Molybdenum transporter1 (MOT1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Molybdenum transporter1 (MOT1)
Metal tolerance
Gene Amplification,
Insertion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Association Mapping
Forsberg SK; Andreatta ME; Huang XY ; et al. (2015)
The Multi-allelic Genetic Architecture of a Variance-Heterogeneity Locus for Molybdenum Concentratio[...]
GP00000677
MOT1
Q9SL95
Physiology
330bp duplication followed by minor indels
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Molybdenum transporter1 (MOT1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Molybdenum transporter1 (MOT1)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Poormohammad Kiani S; Trontin C; Andreatta M ; et al. (2012)
Allelic heterogeneity and trade-off shape natural variation for response to soil micronutrient.
GP00001270
MOT1
Q9SL95
Physiology
D104Y
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Molybdenum transporter1 (MOT1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MPK12
Water absorption (water use efficiency)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Des Marais DL; Auchincloss LC; Sukamtoh E ; et al. (2014)
Variation in MPK12 affects water use efficiency in Arabidopsis and reveals a pleiotropic link betwee[...]
GP00001283
MPK12
Q8GYQ5
Physiology
GGT to CGT @position 53
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
MPK12
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MRC2
Muscular mass
Tail shape (crooked ; defect)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Fasquelle C; Sartelet A; Li W ; et al. (2009)
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...]
2 Additional References
GP00002265
MRC2
Q9UBG0
Physiology
Morphology
c.1906T>G p.C636G
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MRC2
Bos taurus
cattle - (species)
Published - Accepted by Curator
MRS1
F2 lethality
3 Mutations:
Coding
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Interspecific
Linkage Mapping
Chou JY; Hung YS; Lin KH ; et al. (2010)
Multiple molecular mechanisms cause reproductive isolation between three yeast species.
GP00000678
MRS1
P07266
Physiology
3 mutations
Saccharomyces paradoxus
(species)
Saccharomyces bayanus
(species)
Saccharomyces kudriavzevii
(species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MRS1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MSH4
Recombination rate (female)
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001665
MSH4
E1BK76
Physiology
On chromosome 3. Associated SNP located in the intron of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
MSH4
Bos taurus
cattle - (species)
Published - Accepted by Curator
MUK1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001713
MUK1
Q02866
Physiology
Ser441STP(C>A at position 422266 according to Table 1) - TCR to TAR position 422266
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MUK1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Multidrug resistance protein 1 (pvmdr1)
Xenobiotic resistance (mefloquine)
Gene Amplification,
Insertion
Plasmodium vivax
malaria parasite P. vivax - (species) D
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001482
B7STB0
Physiology
37 kb duplication on chromosome 10 that includes pvmdr1
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species) D
Multidrug resistance protein 1 (pvmdr1)
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
multidrug resistance protein 2
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001532
PF3D7_1447900
Q8IKZ6
Physiology
p.Thr484Ile
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
multidrug resistance protein 2
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
MuPKS
Coloration (psittacofulvin; feathers)
Coding,
SNP
Melopsittacus undulatus
budgerigar - (species) D
Domesticated
Association Mapping
Cooke TF; Fischer CR; Wu P ; et al. (2017)
Genetic Mapping and Biochemical Basis of Yellow Feather Pigmentation in Budgerigars.
GP00002121
PKS15
A0A218V6J0
Morphology
Melopsittacus undulatus
budgerigar - (species)
Melopsittacus undulatus
budgerigar - (species) D
MuPKS
Melopsittacus undulatus
budgerigar - (species)
Published - Accepted by Curator
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Glycogen content (muscles)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Milan D; Jeon JT; Looft C ; et al. (2000)
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle.
GP00000682
Prkag3
Q8BGM7
Physiology
R200Q in CBS1; which is the most conserved region among AMPK g chain isoforms; and R200 is conserved in mammalian and Drosophila AMPK g isoforms
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Glycogen content (muscles)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Ciobanu D; Bastiaansen J; Malek M ; et al. (2001)
Evidence for new alleles in the protein kinase adenosine monophosphate-activated gamma(3)-subunit ge[...]
GP00002333
Prkag3
Q8BGM7
Physiology
p.(I249V)
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MX1
Pathogen resistance (myxovirus)
Coding,
SNP
Gallus gallus
chicken - (species) D
Intraspecific
Ko JH; Jin HK; Asano A ; et al. (2002)
Polymorphisms and the differential antiviral activity of the chicken Mx gene.
GP00002249
MX1
P20591
Physiology
c.1892G>A p.S631N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
MX1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MYB-FL
Coloration (flower ; UV absorbance)
Cis-regulatory,
Insertion
Petunia axillaris
(species) D
Interspecific
Linkage Mapping
Sheehan H; Moser M; Klahre U ; et al. (2016)
MYB-FL controls gain and loss of floral UV absorbance, a key trait affecting pollinator preference a[...]
GP00001589
MYB-FL
A0A0S3CVD3
Morphology
A 977-kb insertion 12 bp upstream of the predicted TATA-binding box is causing upregulation of the promoter
Petunia integrifolia
(species)
Petunia axillaris
(species) D
MYB-FL
Petunia axillaris
(species)
Published - Accepted by Curator
MYB1
Coloration (inner flesh)
Cis-regulatory,
Unknown
Beta vulgaris
(species)
Domesticated
Candidate Gene
Hatlestad GJ; Akhavan NA; Sunnadeniya RM ; et al. (2015)
The beet Y locus encodes an anthocyanin MYB-like protein that activates the betalain red pigment pat[...]
GP00001396
MYB1
M1ETA5
Physiology
unknown mutations within 460bp of putative 5 prime UTR
Beta vulgaris
(species)
Beta vulgaris
(species)
MYB1
Beta vulgaris
(species)
Published - Accepted by Curator
MYB1
Coloration (inner flesh)
Cis-regulatory,
Epigenetic Change
Raphanus sativus
radish - (species) D
Domesticated
Candidate Gene
Wang Q; Wang Y; Sun H ; et al. (2020)
Transposon-induced methylation of the RsMYB1 promoter disturbs the anthocyanin accumulation in red-f[...]
GP00002094
MYB1
M1ETA5
Physiology
The taproot white-fleshed mutant is the result of altered DNA methylation in the RsMYB1 promoter. This heritable epigenetic change is due to a hypermethylated CACTA transposon (a 7372-bp TE) which induces the spreading of DNA methylation to the promoter region of RsMYB1. RsMYB1 expression is considerably downregulated and this inhibits anthocyanin biosynthesis in white-fleshed mutants.
Raphanus sativus
radish - (species)
Raphanus sativus
radish - (species) D
MYB1
Raphanus sativus
radish - (species)
Published - Accepted by Curator
Myogenic factor 5 (Myf5)
Rib morphology (skeleton)
Cis-regulatory,
SNP
Pantherophis guttatus guttatus
(subspecies) D
Malayopython reticulatus
reticulated python - (species) D
Boa constrictor
boa - (species) D
Intergeneric or Higher
Candidate Gene
Guerreiro I; Nunes A; Woltering JM ; et al. (2013)
Role of a polymorphism in a Hox/Pax-responsive enhancer in the evolution of the vertebrate spine.
GP00001716
Myf5
P24699
Morphology
one nucleotide change at a Hox binding site (CTAATTG to CCAATTG) - mouse transgenics and protein-DNA binding assay
Squamata
squamates - (order)
Pantherophis guttatus guttatus
(subspecies) D
Malayopython reticulatus
reticulated python - (species) D
Boa constrictor
boa - (species) D
Myogenic factor 5 (Myf5)
Pantherophis guttatus guttatus
(subspecies)
Malayopython reticulatus
reticulated python - (species)
Boa constrictor
boa - (species)
Published - Accepted by Curator
Myogenic factor 5 (Myf5)
Rib morphology (skeleton)
Cis-regulatory,
SNP
Trichechus manatus
West Indian manatee - (species) D
Procavia capensis
Cape rock hyrax - (species) D
Loxodonta africana
African savanna elephant - (species) D
Intergeneric or Higher
Candidate Gene
Guerreiro I; Nunes A; Woltering JM ; et al. (2013)
Role of a polymorphism in a Hox/Pax-responsive enhancer in the evolution of the vertebrate spine.
GP00001717
Myf5
P24699
Morphology
one nucleotide change at a Hox binding site (CTAATTG to CCAATTG) - mouse transgenics and protein-DNA binding assay
Eutheria
placentals - (no rank)
Trichechus manatus
West Indian manatee - (species) D
Procavia capensis
Cape rock hyrax - (species) D
Loxodonta africana
African savanna elephant - (species) D
Myogenic factor 5 (Myf5)
Trichechus manatus
West Indian manatee - (species)
Procavia capensis
Cape rock hyrax - (species)
Loxodonta africana
African savanna elephant - (species)
Published - Accepted by Curator
Myosin heavy chain 9
Heat tolerance
Racing performance
Cis-regulatory,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Huson HJ; vonHoldt BM; Rimbault M ; et al. (2012)
Breed-specific ancestry studies and genome-wide association analysis highlight an association betwee[...]
GP00000684
MYH9
P35579
Physiology
Physiology
Several candidate SNPs - exact causing mutation(s) unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Myosin heavy chain 9
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
McPherron AC; Lee SJ (1997)
Double muscling in cattle due to mutations in the myostatin gene.
2 Additional References
GP00000689
MSTN
O14793
Morphology
C313Y caused by G938A; disrupts disulphide bond
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Alexander LJ; Kuehn LA; Smith TP ; et al. (2009)
A Limousin specific myostatin allele affects longissimus muscle area and fatty acid profiles in a Wa[...]
GP00000692
MSTN
O14793
Morphology
c.282C>A p.Phe94Leu
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Cis-regulatory,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Clop A; Marcq F; Takeda H ; et al. (2006)
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects musc[...]
GP00000695
MSTN
O14793
Morphology
1bp change; generates binding site for two muscle-expressed miRNAs; causing mRNA degradation and lower levels of circulating myostatin
G to A transition in the 3' UTR that creates a target site for mir1 and mir206 microRNAs
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Dierks C; Eder J; Glatzer S ; et al. (2015)
A novel myostatin mutation in double-muscled German Gelbvieh.
GP00002248
MSTN
O14793
Morphology
c.191T>C p.L64P
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Varanus salvator
water monitor - (species) D
Varanus niloticus
(species) D
Varanus albigularis
cape monitor - (species) D
Interspecific
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000699
Atp1a1
Q8VDN2
Physiology
2 mutations
Varanus tristis
(species)
Varanus mitchelli
(species)
Varanus scalaris
(species)
Varanus salvator
water monitor - (species) D
Varanus niloticus
(species) D
Varanus albigularis
cape monitor - (species) D
Na/K-ATPase alpha-subunit
Varanus salvator
water monitor - (species)
Varanus niloticus
(species)
Varanus albigularis
cape monitor - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Natricinae
(subfamily) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000700
Atp1a1
Q8VDN2
Physiology
2 mutations
Colubridae
colubrid snakes - (family)
Natricinae
(subfamily) D
Na/K-ATPase alpha-subunit
Natricinae
(subfamily)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Leptodactylus ocellatus
argus frog - (species) D
Intraspecific
Candidate Gene
Moore DJ; Halliday DC; Rowell DM ; et al. (2009)
Positive Darwinian selection results in resistance to cardioactive toxins in true toads (Anura: Bufo[...]
1 Additional References
GP00000701
Atp1a1
Q8VDN2
Physiology
2 mutations
Leptodactylus ocellatus
argus frog - (species)
Leptodactylus ocellatus
argus frog - (species) D
Na/K-ATPase alpha-subunit
Leptodactylus ocellatus
argus frog - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Atelopus spumarius
Pebas stubfoot toad - (species) D
Rhinella marina
marine toad - (species) D
Rhinella granulosa
granular toad - (species) D
Intergeneric or Higher
Candidate Gene
Moore DJ; Halliday DC; Rowell DM ; et al. (2009)
Positive Darwinian selection results in resistance to cardioactive toxins in true toads (Anura: Bufo[...]
1 Additional References
GP00000702
Atp1a1
Q8VDN2
Physiology
2 mutations
Hyloidea
(superfamily)
Atelopus spumarius
Pebas stubfoot toad - (species) D
Rhinella marina
marine toad - (species) D
Rhinella granulosa
granular toad - (species) D
Na/K-ATPase alpha-subunit
Atelopus spumarius
Pebas stubfoot toad - (species)
Rhinella marina
marine toad - (species)
Rhinella granulosa
granular toad - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Naja melanoleuca
forest cobra - (species) D
Naja naja
Indian cobra - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000703
Atp1a1
Q8VDN2
Physiology
2 mutations
Ophiophagus hannah
king cobra - (species)
Pseudechis australis
mulga snake - (species)
Hemiaspis signata
(species)
Naja melanoleuca
forest cobra - (species) D
Naja naja
Indian cobra - (species) D
Na/K-ATPase alpha-subunit
Naja melanoleuca
forest cobra - (species)
Naja naja
Indian cobra - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
4 Mutations:
Coding
SNP
Chrysochus auratus
dogbane beetle - (species) D
Interspecific
Candidate Gene
Aardema ML; Zhen Y; Andolfatto P (2012)
The evolution of cardenolide-resistant forms of Na⁺,K⁺ -ATPase in Danainae butterflies.
1 Additional References
GP00000704
Atp1a1
Q8VDN2
Physiology
4 mutations
Coleoptera
beetles - (order)
Chrysochus auratus
dogbane beetle - (species) D
Na/K-ATPase alpha-subunit
Chrysochus auratus
dogbane beetle - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Rhyssomatus lineaticollis
(species) D
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
GP00000705
K+ ATPase alpha subunit
R4ZHW8
Physiology
C104Y
Coleoptera
beetles - (order)
Rhyssomatus lineaticollis
(species) D
Na/K-ATPase alpha-subunit
Rhyssomatus lineaticollis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Tetraopes tetrophthalmus
red milkweed beetle - (species) D
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
1 Additional References
GP00000706
Atp1a1
Q8VDN2
Physiology
2 mutations
Coleoptera
beetles - (order)
Tetraopes tetrophthalmus
red milkweed beetle - (species) D
Na/K-ATPase alpha-subunit
Tetraopes tetrophthalmus
red milkweed beetle - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides; ouabaine)
4 Mutations:
Coding
SNP
Danaus plexippus
monarch butterfly - (species) D
Danaus erippus
(species) D
Interspecific
Candidate Gene
Aardema ML; Zhen Y; Andolfatto P (2012)
The evolution of cardenolide-resistant forms of Na⁺,K⁺ -ATPase in Danainae butterflies.
3 Additional References
GP00000707
Atp1a1
Q8VDN2
Physiology
4 mutations
Nymphalidae
brushfoots - (family)
Danaus plexippus
monarch butterfly - (species) D
Danaus erippus
(species) D
Na/K-ATPase alpha-subunit
Danaus plexippus
monarch butterfly - (species)
Danaus erippus
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Erinaceus europaeus
western European hedgehog - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000708
Atp1a1
Q8VDN2
Physiology
2 mutations
Condylura cristata
star-nosed mole - (species)
Erinaceus europaeus
western European hedgehog - (species) D
Na/K-ATPase alpha-subunit
Erinaceus europaeus
western European hedgehog - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
4 Mutations:
Coding
SNP
Oncopeltus fasciatus
milkweed bug - (species) D
Lygaeus kalmii
(species) D
Intergeneric or Higher
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
2 Additional References
GP00000709
Atp1a1
Q8VDN2
Physiology
4 mutations
Insecta
true insects - (class)
Oncopeltus fasciatus
milkweed bug - (species) D
Lygaeus kalmii
(species) D
Na/K-ATPase alpha-subunit
Oncopeltus fasciatus
milkweed bug - (species)
Lygaeus kalmii
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Labidomera clivicollis
(species) D
Intergeneric or Higher
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
1 Additional References
GP00000710
Atp1a1
Q8VDN2
Physiology
2 mutations
Insecta
true insects - (class)
Labidomera clivicollis
(species) D
Na/K-ATPase alpha-subunit
Labidomera clivicollis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Liriomyza asclepiadis
(species) D
Interspecific
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
GP00000711
Atp1a1
Q8VDN2
Physiology
N122H
Insecta
true insects - (class)
Liriomyza asclepiadis
(species) D
Na/K-ATPase alpha-subunit
Liriomyza asclepiadis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Aphis nerii
oleander aphid - (species)
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
GP00000712
K+ ATPase alpha subunit
R4ZHW8
Physiology
2 mutations
Insecta
true insects - (class)
Aphis nerii
oleander aphid - (species)
Na/K-ATPase alpha-subunit
Aphis nerii
oleander aphid - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Cycnia tenera
delicate cyncia - (species)
Lerina incarnata
(species)
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
1 Additional References
GP00000713
Atp1a1
Q8VDN2
Physiology
Q111L
Lepidoptera
butterflies and moths - (order)
Cycnia tenera
delicate cyncia - (species)
Lerina incarnata
(species)
Na/K-ATPase alpha-subunit
Cycnia tenera
delicate cyncia - (species)
Lerina incarnata
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Murinae
(subfamily) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000714
Atp1a1
Q8VDN2
Physiology
2 mutations
Rodentia
rodent - (order)
Murinae
(subfamily) D
Na/K-ATPase alpha-subunit
Murinae
(subfamily)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Varanus varius
lace monitor - (species) D
Varanus tristis
(species) D
Varanus scalaris
(species) D
Interspecific
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000715
Atp1a1
Q8VDN2
Physiology
2 mutations
Varanus salvator
water monitor - (species)
Varanus rudicollis
roughneck monitor - (species)
Varanus dumerilii
Dumeril monitor - (species)
Varanus varius
lace monitor - (species) D
Varanus tristis
(species) D
Varanus scalaris
(species) D
Na/K-ATPase alpha-subunit
Varanus varius
lace monitor - (species)
Varanus tristis
(species)
Varanus scalaris
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Bitis arietans
puff adder - (species) D
Bitis nasicornis
rhinoceros viper - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00000716
Atp1a1
Q8VDN2
Physiology
2 mutations
Vipera berus
adder - (species)
Bitis arietans
puff adder - (species) D
Bitis nasicornis
rhinoceros viper - (species) D
Na/K-ATPase alpha-subunit
Bitis arietans
puff adder - (species)
Bitis nasicornis
rhinoceros viper - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
Unknown
Hydra vulgaris
(species) D
Intergeneric or Higher
Candidate Gene
Canfield VA; Xu KY; D'Aquila T ; et al. (1992)
Molecular cloning and characterization of Na,K-ATPase from Hydra vulgaris: implications for enzyme e[...]
GP00001738
Atp1a1
Q8VDN2
Physiology
Eumetazoa
(no rank)
Hydra vulgaris
(species) D
Na/K-ATPase alpha-subunit
Hydra vulgaris
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
2 Mutations:
Coding
SNP
Rattus norvegicus
Norway rat - (species) D
Mus musculus
house mouse - (species) D
Mesocricetus auratus
golden hamster - (species) D
Peromyscus maniculatus
North American deer mouse - (species) D
Nannospalax galili
Upper Galilee mountains blind mole rat - (species) D
Intergeneric or Higher
Candidate Gene
Shull GE; Greeb J; Lingrel JB (1986)
Molecular cloning of three distinct forms of the Na+,K+-ATPase alpha-subunit from rat brain.
1 Additional References
GP00001739
Atp1a1
Q8VDN2
Physiology
2 mutations
Jaculus jaculus
lesser Egyptian jerboa - (species)
Spermophilus
old world ground squirrels - (genus)
Rattus norvegicus
Norway rat - (species) D
Mus musculus
house mouse - (species) D
Mesocricetus auratus
golden hamster - (species) D
Peromyscus maniculatus
North American deer mouse - (species) D
Nannospalax galili
Upper Galilee mountains blind mole rat - (species) D
Na/K-ATPase alpha-subunit
Rattus norvegicus
Norway rat - (species)
Mus musculus
house mouse - (species)
Mesocricetus auratus
golden hamster - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Nannospalax galili
Upper Galilee mountains blind mole rat - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Oncopeltus fasciatus
milkweed bug - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
1 Additional References
GP00001740
Atp1a1
Q8VDN2
Physiology
Q111T
Lygaeus kalmii
(species)
Oncopeltus fasciatus
milkweed bug - (species) D
Na/K-ATPase alpha-subunit
Oncopeltus fasciatus
milkweed bug - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Liriomyza
(genus) D
Interspecific
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
1 Additional References
GP00001741
Atp1a1
Q8VDN2
Physiology
Q111L
Phytomyzinae
(subfamily)
Liriomyza
(genus) D
Na/K-ATPase alpha-subunit
Liriomyza
(genus)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glycosides)
Coding,
SNP
Saucrobotys futilalis
dogbane pyralid moth - (species) D
Intergeneric or Higher
Candidate Gene
Ujvari B; Casewell NR; Sunagar K ; et al. (2015)
Widespread convergence in toxin resistance by predictable molecular evolution.
GP00001742
Atp1a1
Q8VDN2
Physiology
Q111L
Holometabola
(cohort)
Saucrobotys futilalis
dogbane pyralid moth - (species) D
Na/K-ATPase alpha-subunit
Saucrobotys futilalis
dogbane pyralid moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Wang ZJ; Liang CR; Shang ZY ; et al. (2021)
Insecticide resistance and resistance mechanisms in the melon aphid, Aphis gossypii, in Shandong, Ch[...]
GP00002491
nAChRbeta1
P04755
Physiology
R81T
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
nAChR
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Wang ZJ; Liang CR; Shang ZY ; et al. (2021)
Insecticide resistance and resistance mechanisms in the melon aphid, Aphis gossypii, in Shandong, Ch[...]
GP00002492
nAChRbeta1
P04755
Physiology
K264E
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
nAChR
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Bass C; Puinean AM; Andrews M ; et al. (2011)
Mutation of a nicotinic acetylcholine receptor β subunit is associated with resistance to neonicotin[...]
2 Additional References
GP00002553
nAChRbeta1
P04755
Physiology
R81T in the loop D region of the nAChR β1 subunit of the resistant clone
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
nAChR
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad; spirotetramat)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Puinean AM; Lansdell SJ; Collins T ; et al. (2013)
A nicotinic acetylcholine receptor transmembrane point mutation (G275E) associated with resistance t[...]
3 Additional References
GP00002554
nAChRbeta1
P04755
Physiology
G275E in nAchR alpha 6 due to a single nucleotide change
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
nAChR
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Thrips palmi
(species) D
Intraspecific
Candidate Gene
Bao WX; Narai Y; Nakano A ; et al. (2014)
Spinosad resistance of melon thrips, Thrips palmi, is conferred by G275E mutation in α6 subunit of n[...]
1 Additional References
GP00002555
nAChRbeta1
P04755
Physiology
G275E in nAchR alpha 6 due to a single nucleotide change
Thrips palmi
(species)
Thrips palmi
(species) D
nAChR
Thrips palmi
(species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Xu X; Ding Q; Wang X ; et al. (2022)
V101I and R81T mutations in the nicotinic acetylcholine receptor β1 subunit are associated with neon[...]
GP00002612
nAChRbeta1
P04755
Physiology
V101I
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
nAChR
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Silva WM; Berger M; Bass C ; et al. (2016)
Mutation (G275E) of the nicotinic acetylcholine receptor α6 subunit is associated with high levels o[...]
1 Additional References
GP00002621
nAChRbeta1
P04755
Physiology
G275E in nAchR alpha 6 due to a single nucleotide change
Tuta absoluta
(species)
Tuta absoluta
(species) D
nAChR
Tuta absoluta
(species)
Published - Accepted by Curator
nath-10
Fertility (sperm number; egg laying rate)
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Duveau F; Félix MA (2012)
Role of pleiotropy in the evolution of a cryptic developmental variation in Caenorhabditis elegans.
GP00000718
nath-10
O01757
Morphology
Met746Ile (according to Table S2 C>T but it should be G>A - Needs curation)
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
nath-10
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Nav1 sodium channel
Xenobiotic resistance (pyrethroid; tau-fluvalinate)
3 Mutations:
Coding
SNP
Bombus impatiens
common eastern bumble bee - (species) D
Apis mellifera
honey bee - (species) D
Dufourea novaeangliae
(species) D
Eufriesea mexicana
(species) D
Habropoda laboriosa
(species) D
Melipona quadrifasciata
(species) D
Megachile rotundata
alfalfa leafcutting bee - (species) D
Athalia rosae
coleseed sawfly - (species) D
Intergeneric or Higher
Candidate Gene
Wu S; Nomura Y; Du Y ; et al. (2017)
Molecular basis of selective resistance of the bumblebee BiNa1 sodium channel to tau-fluvalinate.
GP00002648
SCN8A
Q9UQD0
Physiology
3 mutations
Polistes dominula
European paper wasp - (species)
Orussus abietinus
(species)
Diachasma alloeum
(species)
Bombus impatiens
common eastern bumble bee - (species) D
Apis mellifera
honey bee - (species) D
Dufourea novaeangliae
(species) D
Eufriesea mexicana
(species) D
Habropoda laboriosa
(species) D
Melipona quadrifasciata
(species) D
Megachile rotundata
alfalfa leafcutting bee - (species) D
Athalia rosae
coleseed sawfly - (species) D
Nav1 sodium channel
Bombus impatiens
common eastern bumble bee - (species)
Apis mellifera
honey bee - (species)
Dufourea novaeangliae
(species)
Eufriesea mexicana
(species)
Habropoda laboriosa
(species)
Melipona quadrifasciata
(species)
Megachile rotundata
alfalfa leafcutting bee - (species)
Athalia rosae
coleseed sawfly - (species)
Published - Accepted by Curator
Nav1.6 sodium channel
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species) D
Intraspecific
Candidate Gene
McGlothlin JW; Chuckalovcak JP; Janes DE ; et al. (2014)
Parallel evolution of tetrodotoxin resistance in three voltage-gated sodium channel genes in the gar[...]
GP00000735
SCN8A
Q9UQD0
Physiology
Ile1709Val
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species) D
Nav1.6 sodium channel
Thamnophis sirtalis
(species)
Published - Accepted by Curator
Nav1.7 sodium channel
Xenobiotic resistance (TTX)
4 Mutations:
Coding
SNP
Thamnophis sirtalis
(species) D
Intraspecific
Candidate Gene
McGlothlin JW; Chuckalovcak JP; Janes DE ; et al. (2014)
Parallel evolution of tetrodotoxin resistance in three voltage-gated sodium channel genes in the gar[...]
GP00000736
SCN9A
Q15858
Physiology
4 mutations
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species) D
Nav1.7 sodium channel
Thamnophis sirtalis
(species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Cis-regulatory,
Insertion
Corvus cornix
hooded crow - (species) D
Intraspecific
Association Mapping
Knief U; Bossu CM; Saino N ; et al. (2019)
Epistatic mutations under divergent selection govern phenotypic variation in the crow hybrid zone.
2 Additional References
GP00002148
Ndp
P48744
Morphology
2.25-kb LTR retrotransposon insertion reducing expression of the NDP gene and candidate gene LRP6 and a large LD haplotype in chr.18 also show a signal
Corvus corone corone
(subspecies)
Corvus cornix
hooded crow - (species) D
ndp (norrin)
Corvus cornix
hooded crow - (species)
Published - Accepted by Curator
NEK9
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001663
NEK9
F1MM88
Physiology
On chromosome 10. Associated SNP located 10 kb dowstream
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
NEK9
Bos taurus
cattle - (species)
Published - Accepted by Curator
Neverland
Cholesterol metabolism
Ecological specialization
4 Mutations:
Coding
SNP
Drosophila pachea
(species) D
Interspecific
Candidate Gene
Lang M; Murat S; Clark AG ; et al. (2012)
Mutations in the neverland gene turned Drosophila pachea into an obligate specialist species.
GP00000738
nvd
Q1JUZ1
Physiology
Physiology
4 mutations
Drosophila acanthoptera
(species)
Drosophila pachea
(species) D
Courtier Virginie
Neverland
Drosophila pachea
(species)
Published - Accepted by Curator
would be good to add text
March 8, 2019 10:00
npr-1
Aggregation behavior
Foraging behavior
CO2 avoidance
Pathogen avoidance
Fertility (competitive fitness)
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
de Bono M; Bargmann CI (1998)
Natural variation in a neuropeptide Y receptor homolog modifies social behavior and food response in[...]
5 Additional References
GP00000739
npr-1
Q18534
Behavior
Behavior
Behavior
Behavior
Behavior; Physiology
Val215Phe (pleiotropic; see other entries)
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
npr-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Nramp aluminum transporter1
Metal tolerance
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Famoso AN; Zhao K; Clark RT ; et al. (2011)
Genetic architecture of aluminum tolerance in rice (Oryza sativa) determined through genome-wide ass[...]
GP00000740
NRAT1
Q6ZG85
Physiology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Nramp aluminum transporter1
Oryza sativa
rice - (species)
Published - Accepted by Curator
NRT1.1B
Nitrogen use (metabolism)
Coding,
SNP
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Hu B; Wang W; Ou S ; et al. (2015)
Variation in NRT1.1B contributes to nitrate-use divergence between rice subspecies.
GP00001375
NPF6.3
Q05085
Physiology
c.980C>T p.Met327Thr
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
NRT1.1B
Oryza sativa
rice - (species)
Published - Accepted by Curator
Nup160
Hybrid incompatibility (F1 male sterility)
Coding,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Tang S; Presgraves DC (2009)
Evolution of the Drosophila nuclear pore complex results in multiple hybrid incompatibilities.
GP00000742
Nup160
Q9VKJ3
Physiology
Coding divergence
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Nup160
Drosophila simulans
(species)
Published - Accepted by Curator
Nup96
Hybrid incompatibility (F1 male sterility)
Coding,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Presgraves DC; Balagopalan L; Abmayr SM ; et al. (2003)
Adaptive evolution drives divergence of a hybrid inviability gene between two species of Drosophila.
GP00000743
NUP96
Q8LLD0
Physiology
Coding divergence
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Nup96
Drosophila simulans
(species)
Published - Accepted by Curator
nurf-1
Fertility (reproductive timing; egg laying rate)
Lifespan
Growth rate
Diapause (dauer formation)
Coding,
Deletion
Caenorhabditis elegans
(species) D
Domesticated
Linkage Mapping
Large EE; Xu W; Zhao Y ; et al. (2016)
Selection on a Subunit of the NURF Chromatin Remodeler Modifies Life History Traits in a Domesticate[...]
GP00001318
nurf-1
Q6BER5
Physiology
Physiology
Physiology
Physiology
60bp deletion
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
nurf-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Oca2
Coloration (eyes; skin, hair)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Eiberg H; Troelsen J; Nielsen M ; et al. (2008)
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory el[...]
5 Additional References
GP00000747
Oca2
Q62052
Morphology
Causative SNP in enhancer localized in intron of neighbor gene HERC2 : likely rs12913832 within HERC2 which influences on OCA2 expression in eye hair and skin pigmentation
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
Oca2
Coloration (skin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Edwards M; Bigham A; Tan J ; et al. (2010)
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...]
1 Additional References
GP00000748
Oca2
Q62052
Morphology
His615Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
ocimene synthase (OS)
Pheromone production (cuticular hydrocarbons ; beta-ocimene)
Coding,
Unknown
Heliconius cydno
(species) D
Interspecific
Linkage Mapping
Darragh K; Orteu A; Black D ; et al. (2021)
A novel terpene synthase controls differences in anti-aphrodisiac pheromone production between close[...]
GP00002426
TPS
A0A7D0AGU9
Physiology
gain of expression - in vitro assay of the protein activity in E. coli - several amino acid changes between the 2 species
Heliconius melpomene
postman butterfly - (species)
Heliconius cydno
(species) D
ocimene synthase (OS)
Heliconius cydno
(species)
Published - Accepted by Curator
Odorant receptor 3 (OR3)
Olfactory behavior (pheromone)
Coding,
SNP
Ostrinia furnacalis
Asian corn borer - (species)
Interspecific
Candidate Gene
Leary GP; Allen JE; Bunger PL ; et al. (2012)
Single mutation to a sex pheromone receptor provides adaptive specificity between closely related mo[...]
GP00000749
OR3
D3J5H6
Behavior
A148T
Ostrinia nubilalis
European corn borer - (species)
Ostrinia furnacalis
Asian corn borer - (species)
Odorant receptor 3 (OR3)
Ostrinia furnacalis
Asian corn borer - (species)
Published - Accepted by Curator
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Fragrance
Cis-regulatory,
SNP
Petunia x hybrida
(species)
Domesticated
Linkage Mapping
Van Moerkercke A; Haring MA; Schuurink RC (2011)
The transcription factor EMISSION OF BENZENOIDS II activates the MYB ODORANT1 promoter at a MYB bind[...]
GP00000751
ODO1
Q50EX6
Physiology
C/T substitution in enhancer region MYB-TF binding site
Petunia x hybrida
(species)
Petunia x hybrida
(species)
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Petunia x hybrida
(species)
Published - Accepted by Curator
opaque2 (O2)
Lysine content (endosperm)
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Schmidt RJ; Burr FA; Burr B (1987)
Transposon tagging and molecular analysis of the maize regulatory locus opaque-2.
GP00000754
O2
P12959
Physiology
insertion of a non-autonomous rbg transposable element in the untranslated leader sequence of the O2 gene
Zea mays
(species)
Zea mays
(species) D
opaque2 (O2)
Zea mays
(species)
Published - Accepted by Curator
opsin
Color vision (blue)
Coding,
SNP
Alloteuthis subulata
(species)
Interspecific
Candidate Gene
Morris A; Bowmaker JK; Hunt DM (1993)
The molecular basis of a spectral shift in the rhodopsins of two species of squid from different pho[...]
GP00000755
opn1sw1
Q9W6A9
Physiology
F270S
Loligo forbesii
northern European squid - (species)
Alloteuthis subulata
(species)
opsin
Alloteuthis subulata
(species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision
Coding,
SNP
Odontoceti
tooth whales - (suborder)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000757
OPN1SW
P03999
Physiology
E113G; disrupts opsin-chromophore binding
Cetacea
whales - (order)
Odontoceti
tooth whales - (suborder)
opsin - (SWS1)
Odontoceti
tooth whales - (suborder)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (loss of violet-range sensitivity)
Coding,
Deletion
Sciurus carolinensis
gray squirrel - (species) D
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000759
OPN1SW
P03999
Physiology
9bp deletion (residues 93-95)
Sciurus carolinensis
gray squirrel - (species)
Sciurus carolinensis
gray squirrel - (species) D
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Melopsittacus undulatus
budgerigar - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Radlwimmer FB; Blow NS (2000)
Ultraviolet pigments in birds evolved from violet pigments by a single amino acid change.
1 Additional References
GP00000760
OPN1SW
P03999
Physiology
2 mutations
Aves
birds - (class)
Melopsittacus undulatus
budgerigar - (species) D
opsin - (SWS1)
Melopsittacus undulatus
budgerigar - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Rhea americana
greater rhea - (species) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
2 Additional References
GP00000761
OPN1SW
P03999
Physiology
2 mutations
Aves
birds - (class)
Rhea americana
greater rhea - (species) D
opsin - (SWS1)
Rhea americana
greater rhea - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Larus
(genus) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
1 Additional References
GP00000762
OPN1SW
P03999
Physiology
2 mutations
Aves
birds - (class)
Larus
(genus) D
opsin - (SWS1)
Larus
(genus)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
Coding,
SNP
Trogon curucui
(species) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
1 Additional References
GP00000763
OPN1SW
P03999
Physiology
S86F
Aves
birds - (class)
Trogon curucui
(species) D
opsin - (SWS1)
Trogon curucui
(species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
Coding,
SNP
Taeniopygia guttata
zebra finch - (species)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Radlwimmer FB; Blow NS (2000)
Ultraviolet pigments in birds evolved from violet pigments by a single amino acid change.
1 Additional References
GP00000764
OPN1SW
P03999
Physiology
S90C
Passeriformes
(order)
Taeniopygia guttata
zebra finch - (species)
opsin - (SWS1)
Taeniopygia guttata
zebra finch - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
3 Mutations:
Coding
SNP
Xenopus laevis
African clawed frog - (species) D
Intergeneric or Higher
Candidate Gene
Takahashi Y; Yokoyama S (2005)
Genetic basis of spectral tuning in the violet-sensitive visual pigment of African clawed frog, Xeno[...]
GP00000765
OPN1SW
P03999
Physiology
3 mutations
Amniota
amniotes - (no rank)
Xenopus laevis
African clawed frog - (species) D
opsin - (SWS1)
Xenopus laevis
African clawed frog - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Macropodidae
(family)
Intergeneric or Higher
Candidate Gene
Deeb SS; Wakefield MJ; Tada T ; et al. (2003)
The cone visual pigments of an Australian marsupial, the tammar wallaby (Macropus eugenii): sequence[...]
1 Additional References
GP00000766
OPN1SW
P03999
Physiology
F86Y
Metatheria
marsupials - (no rank)
Macropodidae
(family)
opsin - (SWS1)
Macropodidae
(family)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Candidate Gene
Parry JW; Poopalasundaram S; Bowmaker JK ; et al. (2004)
A novel amino acid substitution is responsible for spectral tuning in a rodent violet-sensitive visu[...]
GP00000767
OPN1SW
P03999
Physiology
F86V
Rodentia
rodent - (order)
Cavia porcellus
domestic guinea pig - (species)
opsin - (SWS1)
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Sciurus carolinensis
gray squirrel - (species)
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000768
OPN1SW
P03999
Physiology
F86Y
Rodentia
rodent - (order)
Sciurus carolinensis
gray squirrel - (species)
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
Coding,
SNP
Aves
birds - (class) D
Intergeneric or Higher
Candidate Gene
Carvalho LS; Cowing JA; Wilkie SE ; et al. (2007)
The molecular evolution of avian ultraviolet- and violet-sensitive visual pigments.
1 Additional References
GP00001694
OPN1SW
P03999
Physiology
V116L
Vertebrata
vertebrates - (no rank)
Aves
birds - (class) D
opsin - (SWS1)
Aves
birds - (class)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
Deletion
Lepidopus fitchi
(species) D
Intergeneric or Higher
Candidate Gene
Tada T; Altun A; Yokoyama S (2009)
Evolutionary replacement of UV vision by violet vision in fish.
GP00001704
OPN1SW
P03999
Physiology
deletion of Phe86 (3-bp deletion)
Actinopterygii
ray-finned fishes - (superclass)
Lepidopus fitchi
(species) D
opsin - (SWS1)
Lepidopus fitchi
(species)
Published - Accepted by Curator
opsin - (SWS2)
Color vision (blue- and red-shifts)
2 Mutations:
Coding
SNP
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Candidate Gene
Marques DA; Taylor JS; Jones FC ; et al. (2017)
Convergent evolution of SWS2 opsin facilitates adaptive radiation of threespine stickleback into dif[...]
GP00001679
opn1sw2
Q9W6A8
Physiology
2 mutations
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
opsin - (SWS2)
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
opsin - (SWS2)
Color vision
3 Mutations:
Coding
SNP
Cottus gobio
bullhead - (species) D
Intergeneric or Higher
Candidate Gene
Cowing JA; Poopalasundaram S; Wilkie SE ; et al. (2002)
Spectral tuning and evolution of short wave-sensitive cone pigments in cottoid fish from Lake Baikal[...]
GP00001771
opn1sw2
Q9W6A8
Physiology
3 mutations
Cottidae
sculpins - (family)
Cottus gobio
bullhead - (species) D
opsin - (SWS2)
Cottus gobio
bullhead - (species)
Published - Accepted by Curator
opsin - (SWS2B)
Color vision
Coding,
SNP
Tramitichromis intermedius
(species)
Interspecific
Candidate Gene
O'Quin KE; Schulte JE; Patel Z ; et al. (2012)
Evolution of cichlid vision via trans-regulatory divergence.
GP00001440
opn1sw2
Q9W6A8
Physiology
Ala269Thr causing a 10nm Spectral Sensitivity Shift
Aulonocara baenschi
Nkhomo-benga peacock cichlid - (species)
Tramitichromis intermedius
(species)
opsin - (SWS2B)
Tramitichromis intermedius
(species)
Published - Accepted by Curator
opsin - rhodopsin (LWRh)
Color vision (blue shift)
2 Mutations:
Coding
SNP
Limenitis archippus
viceroy - (species)
Intergeneric or Higher
Candidate Gene
Frentiu FD; Bernard GD; Cuevas CI ; et al. (2007)
Adaptive evolution of color vision as seen through the eyes of butterflies.
GP00000769
LWRh
E2DZP1
Physiology
2 mutations
Limenitis arthemis
white admiral - (species)
Limenitis archippus
viceroy - (species)
opsin - rhodopsin (LWRh)
Limenitis archippus
viceroy - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWRh)
Color vision (blue shift)
2 Mutations:
Coding
SNP
Junonia
buckeyes - (genus)
Intergeneric or Higher
Candidate Gene
Frentiu FD; Bernard GD; Cuevas CI ; et al. (2007)
Adaptive evolution of color vision as seen through the eyes of butterflies.
GP00000770
LWRh
E2DZP1
Physiology
2 mutations
Nymphalidae
brushfoots - (family)
Junonia
buckeyes - (genus)
opsin - rhodopsin (LWRh)
Junonia
buckeyes - (genus)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
SNP
Balaenidae
right whales - (family)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000775
OPN1LW
P04000
Physiology
AG to GG splice site mutation
Cetacea
whales - (order)
Balaenidae
right whales - (family)
opsin - rhodopsin (LWS)
Balaenidae
right whales - (family)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision (blue shift)
Coding,
SNP
Neochromis greenwoodi
(species)
Interspecific
Candidate Gene
Terai Y; Seehausen O; Sasaki T ; et al. (2006)
Divergent selection on opsins drives incipient speciation in Lake Victoria cichlids.
GP00000776
OPN1LW
P04000
Physiology
Candidate mutations are CS180A and/or I277C (human LWS/MWS numbering)
African cichlids
(no rank)
Neochromis greenwoodi
(species)
opsin - rhodopsin (LWS)
Neochromis greenwoodi
(species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision (blue shift)
3 Mutations:
Coding
SNP
Pundamilia pundamilia
(species)
Intraspecific
Candidate Gene
Seehausen O; Terai Y; Magalhaes IS ; et al. (2008)
Speciation through sensory drive in cichlid fish.
GP00000777
OPN1LW
P04000
Physiology
3 mutations
Pundamilia pundamilia
(species)
Pundamilia pundamilia
(species)
opsin - rhodopsin (LWS)
Pundamilia pundamilia
(species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision (blue-shift)
Coding,
SNP
Tursiops truncatus
bottlenose dolphin - (species) D
Intergeneric or Higher
Candidate Gene
Fasick JI; Robsinson PR (1998)
Mechanism of spectral tuning in the dolphin visual pigments.
GP00001703
OPN1LW
P04000
Physiology
A292S
Mammalia
mammals - (class)
Tursiops truncatus
bottlenose dolphin - (species) D
opsin - rhodopsin (LWS)
Tursiops truncatus
bottlenose dolphin - (species)
Published - Accepted by Curator
opsin - rhodopsin (MWS=duplicate of LWS)
Color vision (green-shift)
7 Mutations:
Coding
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Asenjo AB; Rim J; Oprian DD (1994)
Molecular determinants of human red/green color discrimination.
1 Additional References
GP00000778
OPN1MW
P04001
Physiology
7 mutations
Primates
(order)
Catarrhini
(parvorder)
opsin - rhodopsin (MWS=duplicate of LWS)
Catarrhini
(parvorder)
Published - Accepted by Curator
opsin - rhodopsin (UVRh2)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
Intergeneric or Higher
Candidate Gene
Briscoe AD; Bybee SM; Bernard GD ; et al. (2010)
Positive selection of a duplicated UV-sensitive visual pigment coincides with wing pigment evolution[...]
1 Additional References
GP00000779
UVRh2
E2DZL8
Physiology
2 mutations
Nymphalidae
brushfoots - (family)
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
opsin - rhodopsin (UVRh2)
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
2 Mutations:
Coding
SNP
undetermined Cottoidei 'Lake Baikal'
(species)
Intergeneric or Higher
Candidate Gene
Hunt DM; Fitzgibbon J; Slobodyanyuk SJ ; et al. (1996)
Spectral tuning and molecular evolution of rod visual pigments in the species flock of cottoid fish [...]
GP00000780
RHO
P08100
Physiology
2 mutations
undetermined Cottoidei 'Lake Baikal'
(species)
undetermined Cottoidei 'Lake Baikal'
(species)
opsin - rhodopsin1 (RH1)
undetermined Cottoidei 'Lake Baikal'
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
Coding,
SNP
Megaderma lyra
Indian false vampire - (species) D
Intergeneric or Higher
Candidate Gene
Sugawara T; Imai H; Nikaido M ; et al. (2010)
Vertebrate rhodopsin adaptation to dim light via rapid meta-II intermediate formation.
GP00000781
RHO
P08100
Physiology
D83N
Chiroptera
bats - (order)
Megaderma lyra
Indian false vampire - (species) D
opsin - rhodopsin1 (RH1)
Megaderma lyra
Indian false vampire - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
2 Mutations:
Coding
SNP
Sebastolobus altivelis
(species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T; Yamato T (2007 Mar-Apr)
Modulation of the absorption maximum of rhodopsin by amino acids in the C-terminus.
1 Additional References
GP00000782
RHO
P08100
Physiology
2 mutations
Teleostei
teleost fishes - (infraclass)
Sebastolobus altivelis
(species) D
opsin - rhodopsin1 (RH1)
Sebastolobus altivelis
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
Coding,
SNP
Flaveria trinervia
(species)
Intergeneric or Higher
Candidate Gene
Sugawara T; Imai H; Nikaido M ; et al. (2010)
Vertebrate rhodopsin adaptation to dim light via rapid meta-II intermediate formation.
GP00000783
RHO
P08100
Physiology
D83N
Vespertilionidae
common bats - (family)
Flaveria trinervia
(species)
opsin - rhodopsin1 (RH1)
Flaveria trinervia
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Squamata
squamates - (order) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Zhang H; Radlwimmer FB ; et al. (1999)
Adaptive evolution of color vision of the Comoran coelacanth (Latimeria chalumnae).
1 Additional References
GP00000784
RHO
P08100
Physiology
D83N
Amniota
amniotes - (no rank)
Squamata
squamates - (order) D
opsin - rhodopsin1 (RH1)
Squamata
squamates - (order)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Orcinus orca
killer whale - (species) D
Intergeneric or Higher
Candidate Gene
Dungan SZ; Kosyakov A; Chang BS (2016)
Spectral Tuning of Killer Whale (Orcinus orca) Rhodopsin: Evidence for Positive Selection and Functi[...]
1 Additional References
GP00000785
RHO
P08100
Physiology
2 mutations
Bos taurus
cattle - (species)
Orcinus orca
killer whale - (species) D
opsin - rhodopsin1 (RH1)
Orcinus orca
killer whale - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
African cichlids
(no rank)
Intergeneric or Higher
Candidate Gene
Sugawara T; Terai Y; Imai H ; et al. (2005)
Parallelism of amino acid changes at the RH1 affecting spectral sensitivity among deep-water cichlid[...]
1 Additional References
GP00000786
RHO
P08100
Physiology
A292S and reversals; many independent cases
African cichlids
(no rank)
African cichlids
(no rank)
opsin - rhodopsin1 (RH1)
African cichlids
(no rank)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
3 Mutations:
Coding
SNP
Tursiops truncatus
bottlenose dolphin - (species)
Intergeneric or Higher
Candidate Gene
Fasick JI; Robsinson PR (1998)
Mechanism of spectral tuning in the dolphin visual pigments.
2 Additional References
GP00000787
RHO
P08100
Physiology
3 mutations
Mammalia
mammals - (class)
Tursiops truncatus
bottlenose dolphin - (species)
opsin - rhodopsin1 (RH1)
Tursiops truncatus
bottlenose dolphin - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Elephantidae
elephants - (family)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Takenaka N; Agnew DW ; et al. (2005)
Elephants and human color-blind deuteranopes have identical sets of visual pigments.
1 Additional References
GP00000788
RHO
P08100
Physiology
D83N
Mammalia
mammals - (class)
Elephantidae
elephants - (family)
opsin - rhodopsin1 (RH1)
Elephantidae
elephants - (family)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Physeteridae
sperm whales - (family)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000789
RHO
P08100
Physiology
K195T
Cetacea
whales - (order)
Physeteridae
sperm whales - (family)
opsin - rhodopsin1 (RH1)
Physeteridae
sperm whales - (family)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Latimeria menadoensis
Menado coelacanth - (species) D
Latimeria chalumnae
coelacanth - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T (2000)
Adaptive evolution of the African and Indonesian coelacanths to deep-sea environments.
GP00000790
RHO
P08100
Physiology
2 mutations
Teleostei
teleost fishes - (infraclass)
Latimeria menadoensis
Menado coelacanth - (species) D
Latimeria chalumnae
coelacanth - (species) D
opsin - rhodopsin1 (RH1)
Latimeria menadoensis
Menado coelacanth - (species)
Latimeria chalumnae
coelacanth - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Cetacea
whales - (order)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000791
RHO
P08100
Physiology
2 mutations
Mammalia
mammals - (class)
Cetacea
whales - (order)
opsin - rhodopsin1 (RH1)
Cetacea
whales - (order)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (red-shift)
Coding,
SNP
Aristostomias scintillans
shiny loosejaw - (species)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T; Zhang H ; et al. (2008)
Elucidation of phenotypic adaptations: Molecular analyses of dim-light vision proteins in vertebrate[...]
1 Additional References
GP00000792
RHO
P08100
Physiology
D83N; M183F; M253L; F261Y; T289G; S292I; M317I - all together shift to red (see table S4 of Yokoyama PNAS) - individual changes not tested
Stomiidae
barbeled dragonfishes - (family)
Aristostomias scintillans
shiny loosejaw - (species)
opsin - rhodopsin1 (RH1)
Aristostomias scintillans
shiny loosejaw - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (green-shift)
Coding,
SNP
Stomoxys calcitrans
stable fly - (species)
Intraspecific
Candidate Gene
Olafson PU; Aksoy S; Attardo GM ; et al. (2021)
The genome of the stable fly, Stomoxys calcitrans, reveals potential mechanisms underlying reproduct[...]
GP00002535
RHO
P08100
Physiology
Met>Leucine residue present at tuning site 17 which is extremely rare across insect LW opsins. In a survey of over 100 insect LW opsins it was detected only in the two corresponding Rh1 orthologs from M. domestica in addition to one in the distantly related species of thrips (Thysanoptera). The site is residue 17 based on the numbering system developed for butterflies which corresponds to residue 57 in Drosophila Rh1.
Stomoxys calcitrans
stable fly - (species)
Stomoxys calcitrans
stable fly - (species)
opsin - rhodopsin1 (RH1)
Stomoxys calcitrans
stable fly - (species)
Published - Accepted by Curator
opsin - rhodopsin1-A (RH1-A)
Color vision (blue shift)
3 Mutations:
Coding
SNP
Conger myriaster
whitespotted conger - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T; Zhang H ; et al. (2008)
Elucidation of phenotypic adaptations: Molecular analyses of dim-light vision proteins in vertebrate[...]
GP00000793
RHO
P08100
Physiology
3 mutations
Anguilla japonica
Japanese eel - (species)
Conger myriaster
whitespotted conger - (species) D
opsin - rhodopsin1-A (RH1-A)
Conger myriaster
whitespotted conger - (species)
Published - Accepted by Curator
opsin - rhodopsin1-B (RH1-B)
Color vision (blue shift)
Coding,
SNP
Anguilla japonica
Japanese eel - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Takenaka N; Agnew DW ; et al. (2005)
Elephants and human color-blind deuteranopes have identical sets of visual pigments.
1 Additional References
GP00000794
RHO
P08100
Physiology
D83N
Conger myriaster
whitespotted conger - (species)
Anguilla japonica
Japanese eel - (species) D
opsin - rhodopsin1-B (RH1-B)
Anguilla japonica
Japanese eel - (species)
Published - Accepted by Curator
Or22a
Olfaction
Coding,
SNP
Drosophila sechellia
(species) D
Drosophila simulans
(species) D
Drosophila mauritiana
(species) D
Interspecific
Candidate Gene
Auer TO; Khallaf MA; Silbering AF ; et al. (2020)
Olfactory receptor and circuit evolution promote host specialization.
GP00002183
Or22a
P81909
Physiology
Effect of the mutation tested in a Or22a construct which rescues the Or22a knock-down mutation in D. melanogaster.There are two other amino acid changes that may have an effect as well.
Drosophila melanogaster
fruit fly - (species)
Drosophila sechellia
(species) D
Drosophila simulans
(species) D
Drosophila mauritiana
(species) D
Or22a
Drosophila sechellia
(species)
Drosophila simulans
(species)
Drosophila mauritiana
(species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
1 Additional References
GP00000799
OR7D4
Q8NG98
Physiology
P79L
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000800
OR7D4
Q8NG98
Physiology
R227G
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000801
OR7D4
Q8NG98
Physiology
T133M
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000802
OR7D4
Q8NG98
Physiology
S84N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
1 Additional References
GP00000803
OR7D4
Q8NG98
Physiology
R227G
Homininae
(subfamily)
Homo sapiens
human - (species) D
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Zhuang H; Chien MS; Matsunami H (2009)
Dynamic functional evolution of an odorant receptor for sex-steroid-derived odors in primates.
GP00000804
OR7D4
Q8NG98
Physiology
M273T
Homininae
(subfamily)
Homo sapiens
human - (species) D
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
ore
Taste (fruit)
Coding,
SNP
Cucumis sativus
cucumber - (species) D
Intraspecific
Candidate Gene
Qi J; Liu X; Shen D ; et al. (2013)
A genomic variation map provides insights into the genetic basis of cucumber domestication and diver[...]
GP00001390
BCH1
E9JE14
Morphology; Physiology
p.Ala257Asp
Cucumis sativus
cucumber - (species)
Cucumis sativus
cucumber - (species) D
ore
Cucumis sativus
cucumber - (species)
Published - Accepted by Curator
OsPPKL1/qGL3
Grain size
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Zhang X; Wang J; Huang J ; et al. (2012)
Rare allele of OsPPKL1 associated with grain length causes extra-large grain and a significant yield[...]
GP00000812
qLTG-3-1
B3IWI0
Morphology
Asp364Glu
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsPPKL1/qGL3
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsSPL13
Grain size
Cis-regulatory,
Insertion
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Association Mapping
Si L; Chen J; Huang X ; et al. (2016)
OsSPL13 controls grain size in cultivated rice.
GP00001572
SPL13
Q6Z461
Morphology
a CACTTC tandem repeat sequence in the 5' UTR is causing reduced expression
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
OsSPL13
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
OsSPL14 / WFP
Grain yield
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Jiao Y; Wang Y; Xue D ; et al. (2010)
Regulation of OsSPL14 by OsmiR156 defines ideal plant architecture in rice.
1 Additional References
GP00000813
IPA1
D8WJ58
Morphology
Point mutation resulting in altered binding of a micro-RNA
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsSPL14 / WFP
Oryza sativa
rice - (species)
Published - Accepted by Curator
Overdrive
Hybrid incompatibility (male F1 sterility)
Coding,
SNP
Drosophila pseudoobscura
(species)
Intraspecific
Linkage Mapping
Phadnis N; Orr HA (2009)
A single gene causes both male sterility and segregation distortion in Drosophila hybrids.
GP00000816
Ovd
Q2LZF7
Physiology
6 candidate non-synonymous changes - the effect of single amino acid changes has not been tested
Drosophila pseudoobscura
(species)
Drosophila pseudoobscura
(species)
Overdrive
Drosophila pseudoobscura
(species)
Published - Accepted by Curator
PABPN1
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001660
PABPN1
Q28165
Physiology
On chromosome 10. Associated SNP located dowstream of PABPN1
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PABPN1
Bos taurus
cattle - (species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001705
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001706
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001707
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Ranson H; Jensen B; Vulule JM ; et al. (2000)
Identification of a point mutation in the voltage-gated sodium channel gene of Kenyan Anopheles gamb[...]
GP00000818
para
P35500
Physiology
L1014S
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Martinez-Torres D; Chandre F; Williamson MS ; et al. (1998)
Molecular characterization of pyrethroid knockdown resistance (kdr) in the major malaria vector Anop[...]
1 Additional References
GP00000819
para
P35500
Physiology
L1014F
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Jones CM; Liyanapathirana M; Agossa FR ; et al. (2012)
Footprints of positive selection associated with a mutation (N1575Y) in the voltage-gated sodium cha[...]
GP00000820
para
P35500
Physiology
N1575Y
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Wang ZM; Li CX ; et al. (2012)
First report on co-occurrence knockdown resistance mutations and susceptibility to beta-cypermethrin[...]
1 Additional References
GP00000821
para
P35500
Physiology
2 mutations
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Morin S; Williamson MS; Goodson SJ ; et al. (2002)
Mutations in the Bemisia tabaci para sodium channel gene associated with resistance to a pyrethroid [...]
2 Additional References
GP00000822
para
P35500
Physiology
L925I
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
para (kdr)
Bemisia tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Morin S; Williamson MS; Goodson SJ ; et al. (2002)
Mutations in the Bemisia tabaci para sodium channel gene associated with resistance to a pyrethroid [...]
2 Additional References
GP00000823
para
P35500
Physiology
M918V
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
para (kdr)
Bemisia tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Smith TJ; Lee SH; Ingles PJ ; et al. (1997)
The L1014F point mutation in the house fly Vssc1 sodium channel confers knockdown resistance to pyre[...]
2 Additional References
GP00000824
para
P35500
Physiology
L993F (=L1014F)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Liu Z; Valles SM; Dong K (2000)
Novel point mutations in the German cockroach para sodium channel gene are associated with knockdown[...]
2 Additional References
GP00000825
para
P35500
Physiology
C764R (=C785R)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Liu Z; Valles SM; Dong K (2000)
Novel point mutations in the German cockroach para sodium channel gene are associated with knockdown[...]
2 Additional References
GP00000826
para
P35500
Physiology
E434K (=E435K)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
He H; Chen AC; Davey RB ; et al. (1999)
Identification of a point mutation in the para-type sodium channel gene from a pyrethroid-resistant [...]
1 Additional References
GP00000827
para
P35500
Physiology
F1538I
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
para (kdr)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Chen L; Zhong D; Zhang D ; et al. (2010)
Molecular ecology of pyrethroid knockdown resistance in Culex pipiens pallens mosquitoes.
1 Additional References
GP00000828
para
P35500
Physiology
L1014F
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
para (kdr)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Chen L; Zhong D; Zhang D ; et al. (2010)
Molecular ecology of pyrethroid knockdown resistance in Culex pipiens pallens mosquitoes.
GP00000829
para
P35500
Physiology
L1014S
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
para (kdr)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cydia pomonella
codling moth - (species) D
Intraspecific
Candidate Gene
Brun-Barale A; Bouvier JC; Pauron D ; et al. (2005)
Involvement of a sodium channel mutation in pyrethroid resistance in Cydia pomonella L, and developm[...]
1 Additional References
GP00000830
para
P35500
Physiology
L1014F
Cydia pomonella
codling moth - (species)
Cydia pomonella
codling moth - (species) D
para (kdr)
Cydia pomonella
codling moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Guerrero FD; Jamroz RC; Kammlah D ; et al. (1997 Aug-Sep)
Toxicological and molecular characterization of pyrethroid-resistant horn flies, Haematobia irritans[...]
3 Additional References
GP00000831
para
P35500
Physiology
(=M918T)
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
para (kdr)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Guerrero FD; Jamroz RC; Kammlah D ; et al. (1997 Aug-Sep)
Toxicological and molecular characterization of pyrethroid-resistant horn flies, Haematobia irritans[...]
1 Additional References
GP00000832
para
P35500
Physiology
L150F (=L1014F)
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
para (kdr)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Zhao Y; Park Y; Adams ME (2000)
Functional and evolutionary consequences of pyrethroid resistance mutations in S6 transmembrane segm[...]
3 Additional References
GP00000834
para
P35500
Physiology
V421M (=V410M)
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
para (kdr)
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000835
para
P35500
Physiology
V421M (=V410M)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000836
para
P35500
Physiology
L1029H (= L1014H)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000837
para
P35500
Physiology
V421A (=V410A)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000838
para
P35500
Physiology
V421G (=V410G)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Weston DP; Poynton HC; Wellborn GA ; et al. (2013)
Multiple origins of pyrethroid insecticide resistance across the species complex of a nontarget aqua[...]
1 Additional References
GP00000839
para
P35500
Physiology
L925I in species D
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Weston DP; Poynton HC; Wellborn GA ; et al. (2013)
Multiple origins of pyrethroid insecticide resistance across the species complex of a nontarget aqua[...]
1 Additional References
GP00000840
para
P35500
Physiology
M918L - ATG>CTG
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Rinkevich FD; Du Y; Dong K (2013)
Diversity and Convergence of Sodium Channel Mutations Involved in Resistance to Pyrethroids.
1 Additional References
GP00000841
para
P35500
Physiology
2 mutations
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
para (kdr)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Linkage Mapping
Miyazaki M; Ohyama K; Dunlap DY ; et al. (1996)
Cloning and sequencing of the para-type sodium channel gene from susceptible and kdr-resistant Germa[...]
2 Additional References
GP00000842
para
P35500
Physiology
L1014F
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Linkage Mapping
Miyazaki M; Ohyama K; Dunlap DY ; et al. (1996)
Cloning and sequencing of the para-type sodium channel gene from susceptible and kdr-resistant Germa[...]
3 Additional References
GP00000843
para
P35500
Physiology
M918T
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Linkage Mapping
Martinez-Torres D; Foster SP; Field LM ; et al. (1999)
A sodium channel point mutation is associated with resistance to DDT and pyrethroid insecticides in [...]
GP00000844
para
P35500
Physiology
L1014F
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Anstead JA; Williamson MS; Eleftherianos I ; et al. (2004)
High-throughput detection of knockdown resistance in Myzus persicae using allelic discriminating qua[...]
GP00000845
para
P35500
Physiology
(=M918T)
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
3 Mutations:
Coding
SNP
Pediculus humanus
human louse - (species) D
Intraspecific
Candidate Gene
Hodgdon HE; Yoon KS; Previte DJ ; et al. (2010)
Determination of knockdown resistance allele frequencies in global human head louse populations usin[...]
3 Additional References
GP00000846
para
P35500
Physiology
3 mutations
Pediculus humanus
human louse - (species)
Pediculus humanus
human louse - (species) D
para (kdr)
Pediculus humanus
human louse - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Pediculus humanus
human louse - (species) D
Intraspecific
Linkage Mapping
Lee Si Hyeock; Yoon Kyong-Sup; Williamson Martin S ; et al. (2000
)
Molecular analysis of kdr-like resistance in permethrin-resistant strains of head lice, Pediculus ca[...]
GP00000847
para
P35500
Physiology
L932F
Pediculus humanus
human louse - (species)
Pediculus humanus
human louse - (species) D
para (kdr)
Pediculus humanus
human louse - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Sonoda S; Igaki C; Tsumuki H (2008)
Alternatively spliced sodium channel transcripts expressed in field strains of the diamondback moth.
1 Additional References
GP00000848
para
P35500
Physiology
2 mutations
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Linkage Mapping
Usherwood PN; Davies TG; Mellor IR ; et al. (2007)
Mutations in DIIS5 and the DIIS4-S5 linker of Drosophila melanogaster sodium channel define binding [...]
GP00000849
para
P35500
Physiology
T929I
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Triatoma infestans
(species)
Intraspecific
Candidate Gene
Fabro J; Sterkel M; Capriotti N ; et al. (2012)
Identification of a point mutation associated with pyrethroid resistance in the para-type sodium cha[...]
GP00000850
para
P35500
Physiology
L1014F
Triatoma infestans
(species)
Triatoma infestans
(species)
para (kdr)
Triatoma infestans
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000851
para
P35500
Physiology
M918T
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000852
para
P35500
Physiology
T929I
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000853
para
P35500
Physiology
L1014F
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Wang ZM; Li CX ; et al. (2012)
First report on co-occurrence knockdown resistance mutations and susceptibility to beta-cypermethrin[...]
1 Additional References
GP00001689
para
P35500
Physiology
L1014F; Haplotype H02
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species)
Intraspecific
Candidate Gene
Verhaeghen K; Van Bortel W; Trung HD ; et al. (2010)
Knockdown resistance in Anopheles vagus, An. sinensis, An. paraliae and An. peditaeniatus population[...]
1 Additional References
GP00001691
para
P35500
Physiology
L1014S; Haplotype H04
Anopheles sinensis
(species)
Anopheles sinensis
(species)
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles vagus
(species) D
Intraspecific
Candidate Gene
Verhaeghen K; Van Bortel W; Trung HD ; et al. (2010)
Knockdown resistance in Anopheles vagus, An. sinensis, An. paraliae and An. peditaeniatus population[...]
1 Additional References
GP00001692
para
P35500
Physiology
L1014S
Anopheles vagus
(species)
Anopheles vagus
(species) D
para (kdr)
Anopheles vagus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Verhaeghen K; Van Bortel W; Trung HD ; et al. (2010)
Knockdown resistance in Anopheles vagus, An. sinensis, An. paraliae and An. peditaeniatus population[...]
1 Additional References
GP00001695
para
P35500
Physiology
L1014S
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles paraliae
(species)
Intraspecific
Candidate Gene
Verhaeghen K; Van Bortel W; Trung HD ; et al. (2010)
Knockdown resistance in Anopheles vagus, An. sinensis, An. paraliae and An. peditaeniatus population[...]
1 Additional References
GP00001696
para
P35500
Physiology
L1014S
Anopheles paraliae
(species)
Anopheles paraliae
(species)
para (kdr)
Anopheles paraliae
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Wang ZM; Li CX ; et al. (2012)
First report on co-occurrence knockdown resistance mutations and susceptibility to beta-cypermethrin[...]
1 Additional References
GP00001699
para
P35500
Physiology
L1014F; Haplotype H04
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Cimex lectularius
bed bug - (species) D
Intraspecific
Candidate Gene
Yoon KS; Kwon DH; Strycharz JP ; et al. (2008)
Biochemical and molecular analysis of deltamethrin resistance in the common bed bug (Hemiptera: Cimi[...]
4 Additional References
GP00001859
para
P35500
Physiology
2 mutations
Cimex lectularius
bed bug - (species)
Cimex lectularius
bed bug - (species) D
para (kdr)
Cimex lectularius
bed bug - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Varroa destructor
honeybee mite - (species) D
Intraspecific
Candidate Gene
González-Cabrera J; Davies TG; Field LM ; et al. (2013)
An amino acid substitution (L925V) associated with resistance to pyrethroids in Varroa destructor.
1 Additional References
GP00001860
para
P35500
Physiology
L925V
Varroa destructor
honeybee mite - (species)
Varroa destructor
honeybee mite - (species) D
para (kdr)
Varroa destructor
honeybee mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Intraspecific
Candidate Gene
Karatolos N; Gorman K; Williamson MS ; et al. (2012)
Mutations in the sodium channel associated with pyrethroid resistance in the greenhouse whitefly, Tr[...]
1 Additional References
GP00001861
para
P35500
Physiology
M918L - found in samples from China and Europe
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
para (kdr)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Intraspecific
Candidate Gene
Karatolos N; Gorman K; Williamson MS ; et al. (2012)
Mutations in the sodium channel associated with pyrethroid resistance in the greenhouse whitefly, Tr[...]
1 Additional References
GP00001862
para
P35500
Physiology
2 mutations
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
para (kdr)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species)
Intraspecific
Candidate Gene
Major KM; Weston DP; Lydy MJ ; et al. (2018)
Unintentional exposure to terrestrial pesticides drives widespread and predictable evolution of resi[...]
GP00001863
para
P35500
Physiology
M918L - ATG>TTG - conferred by a TTG codon rather than CTG - The M918L TTG and the M918L CTG were both identified in the Chualar Creek (HighPU) population and have also been identified in populations of the green peach aphid M. persicae (Panini et al., 2015).
Hyalella azteca
(species)
Hyalella azteca
(species)
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Major KM; Weston DP; Lydy MJ ; et al. (2018)
Unintentional exposure to terrestrial pesticides drives widespread and predictable evolution of resi[...]
GP00001864
para
P35500
Physiology
L925V
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Panini M; Anaclerio M; Puggioni V ; et al. (2015)
Presence and impact of allelic variations of two alternative s-kdr mutations, M918T and M918L, in th[...]
3 Additional References
GP00001865
para
P35500
Physiology
M918L
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Panini M; Anaclerio M; Puggioni V ; et al. (2015)
Presence and impact of allelic variations of two alternative s-kdr mutations, M918T and M918L, in th[...]
1 Additional References
GP00001866
para
P35500
Physiology
M918L
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Ishak IH; Jaal Z; Ranson H ; et al. (2015)
Contrasting patterns of insecticide resistance and knockdown resistance (kdr) in the dengue vectors [...]
2 Additional References
GP00002444
para
P35500
Physiology
V1016G
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Ishak IH; Jaal Z; Ranson H ; et al. (2015)
Contrasting patterns of insecticide resistance and knockdown resistance (kdr) in the dengue vectors [...]
1 Additional References
GP00002445
para
P35500
Physiology
F1534C
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
3 Mutations:
Coding
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Plernsub S; Saingamsook J; Yanola J ; et al. (2016)
Additive effect of knockdown resistance mutations, S989P, V1016G and F1534C, in a heterozygous genot[...]
1 Additional References
GP00002446
para
P35500
Physiology
3 mutations
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes albopictus
Asian tiger mosquito - (species) D
Intraspecific
Candidate Gene
Kasai S; Ng LC; Lam-Phua SG ; et al. (2011)
First detection of a putative knockdown resistance gene in major mosquito vector, Aedes albopictus.
1 Additional References
GP00002447
para
P35500
Physiology
F1534C
Aedes albopictus
Asian tiger mosquito - (species)
Aedes albopictus
Asian tiger mosquito - (species) D
para (kdr)
Aedes albopictus
Asian tiger mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Phlebotomus argentipes
(species) D
Intraspecific
Candidate Gene
Balaska S; Fotakis EA; Chaskopoulou A ; et al. (2021)
Chemical control and insecticide resistance status of sand fly vectors worldwide.
GP00002469
para
P35500
Physiology
L1014S
Phlebotomus argentipes
(species)
Phlebotomus argentipes
(species) D
para (kdr)
Phlebotomus argentipes
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Phlebotomus argentipes
(species) D
Intraspecific
Candidate Gene
Balaska S; Fotakis EA; Chaskopoulou A ; et al. (2021)
Chemical control and insecticide resistance status of sand fly vectors worldwide.
GP00002470
para
P35500
Physiology
L1014F
Phlebotomus argentipes
(species)
Phlebotomus argentipes
(species) D
para (kdr)
Phlebotomus argentipes
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Candidate Gene
Head DJ; McCaffery AR; Callaghan A (1998)
Novel mutations in the para-homologous sodium channel gene associated with phenotypic expression of [...]
GP00002486
para
P35500
Physiology
2 mutations
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
para (kdr)
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Head DJ; McCaffery AR; Callaghan A (1998)
Novel mutations in the para-homologous sodium channel gene associated with phenotypic expression of [...]
GP00002487
para
P35500
Physiology
2 mutations
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
para (kdr)
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Haddi K; Tomé HVV; Du Y ; et al. (2017)
Detection of a new pyrethroid resistance mutation (V410L) in the sodium channel of Aedes aegypti: a [...]
1 Additional References
GP00002488
para
P35500
Physiology
2 mutations
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Xu Q; Zhang L; Li T ; et al. (2012)
Evolutionary adaptation of the amino acid and codon usage of the mosquito sodium channel following i[...]
GP00002489
para
P35500
Physiology
3 nonsynonymous A(109)S L(982)F and W(1573)R) and 6 synonymous L(852) G(891) A(1241) D(1245) P(1249) and G(1733)) mutations were identified. The co-existence of all 9 mutations and their homozygousity were found to be important factors for high levels of resistance.
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
para (kdr)
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Marshall Kate L; Moran Christopher; Chen Yizhou ; et al. (2012
)
Detection of kdr pyrethroid resistance in the cotton aphid, Aphis gossypii (Hemiptera: Aphididae), u[...]
2 Additional References
GP00002490
para
P35500
Physiology
L1014F
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
para (kdr)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus evansi
red spider mite - (species) D
Intraspecific
Linkage Mapping
Nyoni BN; Gorman K; Mzilahowa T ; et al. (2011)
Pyrethroid resistance in the tomato red spider mite, Tetranychus evansi, is associated with mutation[...]
GP00002493
para
P35500
Physiology
M918T - first report of the M918T mutation in the absence of L1014F in any arthropod species.
Tetranychus evansi
red spider mite - (species)
Tetranychus evansi
red spider mite - (species) D
para (kdr)
Tetranychus evansi
red spider mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Liriomyza huidobrensis
pea leafminer - (species) D
Intraspecific
Candidate Gene
Davies TG; Field LM; Usherwood PN ; et al. (2007)
DDT, pyrethrins, pyrethroids and insect sodium channels.
GP00002494
para
P35500
Physiology
2 mutations
Liriomyza huidobrensis
pea leafminer - (species)
Liriomyza huidobrensis
pea leafminer - (species) D
para (kdr)
Liriomyza huidobrensis
pea leafminer - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Liriomyza sativae
vegetable leafminer - (species) D
Intraspecific
Candidate Gene
Davies TG; Field LM; Usherwood PN ; et al. (2007)
DDT, pyrethrins, pyrethroids and insect sodium channels.
GP00002495
para
P35500
Physiology
L1014F
Liriomyza sativae
vegetable leafminer - (species)
Liriomyza sativae
vegetable leafminer - (species) D
para (kdr)
Liriomyza sativae
vegetable leafminer - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Thrips tabaci
(species) D
Intraspecific
Candidate Gene
Toda S; Morishita M (2009)
Identification of three point mutations on the sodium channel gene in pyrethroid-resistant Thrips ta[...]
GP00002496
para
P35500
Physiology
2 mutations
Thrips tabaci
(species)
Thrips tabaci
(species) D
para (kdr)
Thrips tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Thrips tabaci
(species) D
Intraspecific
Candidate Gene
Toda S; Morishita M (2009)
Identification of three point mutations on the sodium channel gene in pyrethroid-resistant Thrips ta[...]
GP00002497
para
P35500
Physiology
T929I
Thrips tabaci
(species)
Thrips tabaci
(species) D
para (kdr)
Thrips tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Carletto J; Martin T; Vanlerberghe-Masutti F ; et al. (2010)
Insecticide resistance traits differ among and within host races in Aphis gossypii.
GP00002498
para
P35500
Physiology
M918L
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
para (kdr)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Major KM; Weston DP; Lydy MJ ; et al. (2018)
Unintentional exposure to terrestrial pesticides drives widespread and predictable evolution of resi[...]
GP00002499
para
P35500
Physiology
M918L in species B
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Major KM; Weston DP; Lydy MJ ; et al. (2018)
Unintentional exposure to terrestrial pesticides drives widespread and predictable evolution of resi[...]
GP00002500
para
P35500
Physiology
M918L in species C
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Thrips tabaci
(species) D
Intraspecific
Candidate Gene
Wu M; Gotoh H; Waters T ; et al. (2014)
Identification of an alternative knockdown resistance (kdr)-like mutation, M918L, and a novel mutati[...]
1 Additional References
GP00002501
para
P35500
Physiology
2 mutations
Thrips tabaci
(species)
Thrips tabaci
(species) D
para (kdr)
Thrips tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
Morgan JA; Corley SW; Jackson LA ; et al. (2009)
Identification of a mutation in the para-sodium channel gene of the cattle tick Rhipicephalus (Boop[...]
1 Additional References
GP00002502
para
P35500
Physiology
L925I - Cytosine to adenine mutation at position 190 in the R. microplus sequence AF134216 results in an amino acid substitution from leucine in the susceptible strain to isoleucine in the resistant strain. A similar mutation has been shown to confer SP resistance in the whitefly Bemisia tabaci.
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
para (kdr)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Thrips palmi
(species) D
Intraspecific
Candidate Gene
Bao Wen Xue; Sonoda Shoji (2012
)
Resistance to cypermethrin in melon thrips, Thrips palmi (Thysanoptera: Thripidae), is conferred by [...]
GP00002503
para
P35500
Physiology
T929I
Thrips palmi
(species)
Thrips palmi
(species) D
para (kdr)
Thrips palmi
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Rinkevich FD; Du Y; Dong K (2013)
Diversity and Convergence of Sodium Channel Mutations Involved in Resistance to Pyrethroids.
1 Additional References
GP00002504
para
P35500
Physiology
T929I
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
para (kdr)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitophilus zeamais
maize weevil - (species) D
Intraspecific
Candidate Gene
Araújo RA; Williamson MS; Bass C ; et al. (2011)
Pyrethroid resistance in Sitophilus zeamais is associated with a mutation (T929I) in the voltage-gat[...]
1 Additional References
GP00002505
para
P35500
Physiology
T929I
Sitophilus zeamais
maize weevil - (species)
Sitophilus zeamais
maize weevil - (species) D
para (kdr)
Sitophilus zeamais
maize weevil - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Forcioli D; Frey B; Frey JE (2002)
High nucleotide diversity in the para-like voltage-sensitive sodium channel gene sequence in the wes[...]
1 Additional References
GP00002506
para
P35500
Physiology
T929V
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
para (kdr)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Forcioli D; Frey B; Frey JE (2002)
High nucleotide diversity in the para-like voltage-sensitive sodium channel gene sequence in the wes[...]
1 Additional References
GP00002507
para
P35500
Physiology
T929C
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
para (kdr)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Forcioli D; Frey B; Frey JE (2002)
High nucleotide diversity in the para-like voltage-sensitive sodium channel gene sequence in the wes[...]
1 Additional References
GP00002508
para
P35500
Physiology
T929I
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
para (kdr)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Forcioli D; Frey B; Frey JE (2002)
High nucleotide diversity in the para-like voltage-sensitive sodium channel gene sequence in the wes[...]
1 Additional References
GP00002509
para
P35500
Physiology
L1014F
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
para (kdr)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Linkage Mapping
Endersby NM; Viduka K; Baxter SW ; et al. (2011)
Widespread pyrethroid resistance in Australian diamondback moth, Plutella xylostella (L.), is relate[...]
1 Additional References
GP00002510
para
P35500
Physiology
F1020S
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Mavridis K; Papapostolou KM; Ilias A ; et al. (2022)
Next-generation molecular diagnostics (TaqMan qPCR and ddPCR) for monitoring insecticide resistance [...]
2 Additional References
GP00002511
para
P35500
Physiology
T929V
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
para (kdr)
Bemisia tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Ctenocephalides felis
cat flea - (species) D
Intraspecific
Candidate Gene
Bass C; Schroeder I; Turberg A ; et al. (2004)
Identification of mutations associated with pyrethroid resistance in the para-type sodium channel of[...]
1 Additional References
GP00002514
para
P35500
Physiology
T929V
Ctenocephalides felis
cat flea - (species)
Ctenocephalides felis
cat flea - (species) D
para (kdr)
Ctenocephalides felis
cat flea - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Ctenocephalides felis
cat flea - (species) D
Intraspecific
Candidate Gene
Bass C; Schroeder I; Turberg A ; et al. (2004)
Identification of mutations associated with pyrethroid resistance in the para-type sodium channel of[...]
1 Additional References
GP00002515
para
P35500
Physiology
L1014F
Ctenocephalides felis
cat flea - (species)
Ctenocephalides felis
cat flea - (species) D
para (kdr)
Ctenocephalides felis
cat flea - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
Jonsson NN; Cutullè C; Corley SW ; et al. (2010)
Identification of a mutation in the para-sodium channel gene of the cattle tick Rhipicephalus microp[...]
2 Additional References
GP00002516
para
P35500
Physiology
G72V = G933V - G toT non-synonymous mutation at nucleotide position 214 that results in a glycine to valine substitution (G72V)
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
para (kdr)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
1 Additional References
GP00002517
para
P35500
Physiology
I951V = I936V
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Lepeophtheirus salmonis
salmon louse - (species) D
Intraspecific
Candidate Gene
Fallang A; Denholm I; Horsberg TE ; et al. (2005)
Novel point mutation in the sodium channel gene of pyrethroid-resistant sea lice Lepeophtheirus salm[...]
1 Additional References
GP00002518
para
P35500
Physiology
Q945R in transmembrane segment IIS5
Lepeophtheirus salmonis
salmon louse - (species)
Lepeophtheirus salmonis
salmon louse - (species) D
para (kdr)
Lepeophtheirus salmonis
salmon louse - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Brengues C; Hawkes NJ; Chandre F ; et al. (2003)
Pyrethroid and DDT cross-resistance in Aedes aegypti is correlated with novel mutations in the volta[...]
1 Additional References
GP00002519
para
P35500
Physiology
I104M = I1011M
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Saavedra-Rodriguez K; Urdaneta-Marquez L; Rajatileka S ; et al. (2007)
A mutation in the voltage-gated sodium channel gene associated with pyrethroid resistance in Latin A[...]
1 Additional References
GP00002520
para
P35500
Physiology
I1011V
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles stephensi
Asian malaria mosquito - (species) D
Intraspecific
Candidate Gene
Enayati AA; Vatandoost H; Ladonni H ; et al. (2003)
Molecular evidence for a kdr-like pyrethroid resistance mechanism in the malaria vector mosquito Ano[...]
2 Additional References
GP00002521
para
P35500
Physiology
L1014F - one point mutation difference involving a single A-T base change encoding a leucine to phenylalanine amino acid substitution in the pyrethroid-resistant strain.
Anopheles stephensi
Asian malaria mosquito - (species)
Anopheles stephensi
Asian malaria mosquito - (species) D
para (kdr)
Anopheles stephensi
Asian malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles stephensi
Asian malaria mosquito - (species) D
Intraspecific
Candidate Gene
Safi NHZ; Ahmadi AA; Nahzat S ; et al. (2019)
Status of insecticide resistance and its biochemical and molecular mechanisms in Anopheles stephensi[...]
GP00002522
para
P35500
Physiology
L1014S
Anopheles stephensi
Asian malaria mosquito - (species)
Anopheles stephensi
Asian malaria mosquito - (species) D
para (kdr)
Anopheles stephensi
Asian malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles subpictus
(species) D
Intraspecific
Candidate Gene
Karunaratne SHPP; Hawkes Nicola J; Perera MDB ; et al. (2007
)
Mutated sodium channel genes and elevated monooxygenases are found in pyrethroid resistant populatio[...]
1 Additional References
GP00002523
para
P35500
Physiology
L1014F - TTA>TTT
Anopheles subpictus
(species)
Anopheles subpictus
(species) D
para (kdr)
Anopheles subpictus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Xu Q; Liu H; Zhang L ; et al. (2005)
Resistance in the mosquito, Culex quinquefasciatus, and possible mechanisms for resistance.
1 Additional References
GP00002524
para
P35500
Physiology
L1014F
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
para (kdr)
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
D
Intraspecific
Candidate Gene
Rothwell JT; Morgan JA; James PJ ; et al. (2011)
Mechanism of resistance to synthetic pyrethroids in buffalo flies in south-east Queensland.
1 Additional References
GP00002525
para
P35500
Physiology
L1014F
D
para (kdr)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Brassicogethes aeneus
(species)
Intraspecific
Candidate Gene
Nauen Ralf; Zimmer Christoph T; Andrews Melanie ; et al. (2012
)
Target-site resistance to pyrethroids in European populations of pollen beetle, Meligethes aeneus F.[...]
1 Additional References
GP00002526
para
P35500
Physiology
L1014F - found in individuals from Denmark and Sweden
Brassicogethes aeneus
(species)
Brassicogethes aeneus
(species)
para (kdr)
Brassicogethes aeneus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitobion avenae
English grain aphid - (species) D
Intraspecific
Candidate Gene
Foster SP; Paul VL; Slater R ; et al. (2014)
A mutation (L1014F) in the voltage-gated sodium channel of the grain aphid, Sitobion avenae, is asso[...]
1 Additional References
GP00002527
para
P35500
Physiology
L1014F
Sitobion avenae
English grain aphid - (species)
Sitobion avenae
English grain aphid - (species) D
para (kdr)
Sitobion avenae
English grain aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Cassanelli S; Cerchiari B; Giannini S ; et al. (2005)
Use of the RFLP-PCR diagnostic test for characterizing MACE and kdr insecticide resistance in the pe[...]
1 Additional References
GP00002528
para
P35500
Physiology
F979S (housefly numbering) located inside the linker segment IIS5-6
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles arabiensis
(species)
Intraspecific
Candidate Gene
Stump AD; Atieli FK; Vulule JM ; et al. (2004)
Dynamics of the pyrethroid knockdown resistance allele in western Kenyan populations of Anopheles ga[...]
1 Additional References
GP00002529
para
P35500
Physiology
L1014S
Anopheles arabiensis
(species)
Anopheles arabiensis
(species)
para (kdr)
Anopheles arabiensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles culicifacies
(species) D
Intraspecific
Candidate Gene
Singh OP; Dykes CL; Das MK ; et al. (2010)
Presence of two alternative kdr-like mutations, L1014F and L1014S, and a novel mutation, V1010L, in [...]
GP00002530
para
P35500
Physiology
L1014S
Anopheles culicifacies
(species)
Anopheles culicifacies
(species) D
para (kdr)
Anopheles culicifacies
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles culicifacies
(species) D
Intraspecific
Candidate Gene
Singh OP; Bali P; Hemingway J ; et al. (2009)
PCR-based methods for the detection of L1014 kdr mutation in Anopheles culicifacies sensu lato.
GP00002531
para
P35500
Physiology
L1014F
Anopheles culicifacies
(species)
Anopheles culicifacies
(species) D
para (kdr)
Anopheles culicifacies
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sacharovi
(species)
Intraspecific
Candidate Gene
Lüleyap HU; Alptekin D; Kasap H ; et al. (2002)
Detection of knockdown resistance mutations in Anopheles sacharovi (Diptera: Culicidae) and genetic [...]
2 Additional References
GP00002532
para
P35500
Physiology
L1014S
Anopheles sacharovi
(species)
Anopheles sacharovi
(species)
para (kdr)
Anopheles sacharovi
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sacharovi
(species)
Intraspecific
Candidate Gene
Yavaşoglu Sİ; Ülger C; Şimşek FM (2021)
The first implementation of allele-specific primers for detecting the knockdown and acetylcholineste[...]
1 Additional References
GP00002533
para
P35500
Physiology
L1014F
Anopheles sacharovi
(species)
Anopheles sacharovi
(species)
para (kdr)
Anopheles sacharovi
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Stomoxys calcitrans
stable fly - (species) D
Intraspecific
Candidate Gene
Olafson PU; Pitzer JB; Kaufman PE (2011)
Identification of a mutation associated with permethrin resistance in the para-type sodium channel o[...]
2 Additional References
GP00002534
para
P35500
Physiology
L1014H
Stomoxys calcitrans
stable fly - (species)
Stomoxys calcitrans
stable fly - (species) D
para (kdr)
Stomoxys calcitrans
stable fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Kang S; Jung J; Lee S ; et al. (2012)
The polymorphism and the geographical distribution of the knockdown resistance (kdr) of Anopheles si[...]
1 Additional References
GP00002536
para
P35500
Physiology
L1014C
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Lol JC; Castellanos ME; Liebman KA ; et al. (2013)
Molecular evidence for historical presence of knock-down resistance in Anopheles albimanus, a key ma[...]
1 Additional References
GP00002537
para
P35500
Physiology
L1014C in Nicaragua and Costa Rica individuals
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
para (kdr)
Anopheles albimanus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Lol JC; Castellanos ME; Liebman KA ; et al. (2013)
Molecular evidence for historical presence of knock-down resistance in Anopheles albimanus, a key ma[...]
1 Additional References
GP00002538
para
P35500
Physiology
L1014F in Mexico individuals
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
para (kdr)
Anopheles albimanus
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Wang ZM; Li CX; Xing D ; et al. (2012)
Detection and widespread distribution of sodium channel alleles characteristic of insecticide resist[...]
1 Additional References
GP00002539
para
P35500
Physiology
L1014C
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
para (kdr)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Li CX; Wang ZM ; et al. (2012)
First detection of multiple knockdown resistance (kdr)-like mutations in voltage-gated sodium channe[...]
1 Additional References
GP00002540
para
P35500
Physiology
L1014W
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Pridgeon Julia W; Appel Arthur G; Moar William J ; et al. (2002
)
Variability of resistance mechanisms in pyrethroid resistant German cockroaches (Dictyoptera: Blatte[...]
1 Additional References
GP00002541
para
P35500
Physiology
F999S = F1020S - T to C at nt 2996 resulting in a phenylalanine999 to serine999 amino acid change
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Kwon Deok Ho; Clark J Marshall; Lee Si Hyeock (2010
)
Cloning of a sodium channel gene and identification of mutations putatively associated with fenpropa[...]
1 Additional References
GP00002542
para
P35500
Physiology
L1024V
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
para (kdr)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Pittendrigh B; Reenan R; ffrench-Constant RH ; et al. (1997)
Point mutations in the Drosophila sodium channel gene para associated with resistance to DDT and pyr[...]
1 Additional References
GP00002543
para
P35500
Physiology
A1549V = A1410V
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
para (kdr)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Pittendrigh B; Reenan R; ffrench-Constant RH ; et al. (1997)
Point mutations in the Drosophila sodium channel gene para associated with resistance to DDT and pyr[...]
1 Additional References
GP00002544
para
P35500
Physiology
A1648V = A1494V
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
para (kdr)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Kawada H; Higa Y; Komagata O ; et al. (2009)
Widespread distribution of a newly found point mutation in voltage-gated sodium channel in pyrethroi[...]
1 Additional References
GP00002545
para
P35500
Physiology
F1269C = F1534C
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus cinnabarinus
carmine spider mite - (species) D
Intraspecific
Candidate Gene
Feng YN; Zhao S; Sun W ; et al. (2011)
The sodium channel gene in Tetranychus cinnabarinus (Boisduval): identification and expression analy[...]
1 Additional References
GP00002546
para
P35500
Physiology
F1538I
Tetranychus cinnabarinus
carmine spider mite - (species)
Tetranychus cinnabarinus
carmine spider mite - (species) D
para (kdr)
Tetranychus cinnabarinus
carmine spider mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Tsagkarakou A; Van Leeuwen T; Khajehali J ; et al. (2009)
Identification of pyrethroid resistance associated mutations in the para sodium channel of the two-s[...]
1 Additional References
GP00002547
para
P35500
Physiology
F1538I
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
para (kdr)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Pittendrigh B; Reenan R; ffrench-Constant RH ; et al. (1997)
Point mutations in the Drosophila sodium channel gene para associated with resistance to DDT and pyr[...]
1 Additional References
GP00002548
para
P35500
Physiology
M1524I
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
para (kdr)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Varroa destructor
honeybee mite - (species) D
Intraspecific
Candidate Gene
Hubert J; Nesvorna M; Kamler M ; et al. (2014)
Point mutations in the sodium channel gene conferring tau-fluvalinate resistance in Varroa destructo[...]
GP00002549
para
P35500
Physiology
F975L
Varroa destructor
honeybee mite - (species)
Varroa destructor
honeybee mite - (species) D
para (kdr)
Varroa destructor
honeybee mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Varroa destructor
honeybee mite - (species) D
Intraspecific
Candidate Gene
Wang Ruiwu; Liu Zhiqi; Dong Ke ; et al. (2002
)
Association of novel mutations in a sodium channel gene with fluvalinate resistance in the mite, Var[...]
1 Additional References
GP00002550
para
P35500
Physiology
F1528L+M1823I
Varroa destructor
honeybee mite - (species)
Varroa destructor
honeybee mite - (species) D
para (kdr)
Varroa destructor
honeybee mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Varroa destructor
honeybee mite - (species) D
Intraspecific
Candidate Gene
Wang Ruiwu; Liu Zhiqi; Dong Ke ; et al. (2002
)
Association of novel mutations in a sodium channel gene with fluvalinate resistance in the mite, Var[...]
GP00002551
para
P35500
Physiology
F758L+L826P+I982V+M1055I = F1528L+L1596P+I1752V+M1823I
Varroa destructor
honeybee mite - (species)
Varroa destructor
honeybee mite - (species) D
para (kdr)
Varroa destructor
honeybee mite - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Stomoxys calcitrans
stable fly - (species) D
Intraspecific
Candidate Gene
Olafson PU; Kaufman PE; Duvallet G ; et al. (2019)
Frequency of kdr and kdr-his Alleles in Stable Fly (Diptera: Muscidae) Populations From the United S[...]
GP00002613
para
P35500
Physiology
L1014F
Stomoxys calcitrans
stable fly - (species)
Stomoxys calcitrans
stable fly - (species) D
para (kdr)
Stomoxys calcitrans
stable fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Singh KS; Cordeiro EMG; Troczka BJ ; et al. (2021)
Global patterns in genomic diversity underpinning the evolution of insecticide resistance in the aph[...]
1 Additional References
GP00002614
para
P35500
Physiology
M918I ATG>ATT
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Singh KS; Cordeiro EMG; Troczka BJ ; et al. (2021)
Global patterns in genomic diversity underpinning the evolution of insecticide resistance in the aph[...]
1 Additional References
GP00002615
para
P35500
Physiology
M918I ATG>ATA
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Kushwah RBS; Kaur T; Dykes CL ; et al. (2020)
A new knockdown resistance (kdr) mutation, F1534L, in the voltage-gated sodium channel of Aedes aegy[...]
GP00002625
para
P35500
Physiology
F1534L - Phe (TTC) > Leu (CTC)
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
para (kdr)
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Wang XL; Su W; Zhang JH ; et al. (2016)
Two novel sodium channel mutations associated with resistance to indoxacarb and metaflumizone in the[...]
1 Additional References
GP00002629
para
P35500
Physiology
F1845Y
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Wang XL; Su W; Zhang JH ; et al. (2016)
Two novel sodium channel mutations associated with resistance to indoxacarb and metaflumizone in the[...]
1 Additional References
GP00002630
para
P35500
Physiology
V1848I
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Roditakis E; Mavridis K; Riga M ; et al. (2017)
Identification and detection of indoxacarb resistance mutations in the para sodium channel of the to[...]
1 Additional References
GP00002631
para
P35500
Physiology
V1848I
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Roditakis E; Mavridis K; Riga M ; et al. (2017)
Identification and detection of indoxacarb resistance mutations in the para sodium channel of the to[...]
1 Additional References
GP00002632
para
P35500
Physiology
F1845Y
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Sun H; Kasai S; Scott JG (2017)
Two novel house fly Vssc mutations, D600N and T929I, give rise to new insecticide resistance alleles[...]
GP00002644
para
P35500
Physiology
super-kdr+D600N - super-kdr+D600N confers higher levels of resistance to seven pyrethroids relative to super-kdr.
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Sun H; Kasai S; Scott JG (2017)
Two novel house fly Vssc mutations, D600N and T929I, give rise to new insecticide resistance alleles[...]
GP00002645
para
P35500
Physiology
kdr+T929I - addition of T929I to the kdr mutation (L1014F) increased resistance to all pyrethroids (except etofenprox) and enhanced resistance by ~1000-fold to acrinathrin and flumethrin.
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes albopictus
Asian tiger mosquito - (species) D
Intraspecific
Candidate Gene
Wu Y; Liu Q; Qi Y ; et al. (2021)
Knockdown Resistance (kdr) Mutations I1532T and F1534S Were Identified in Aedes albopictus Field Pop[...]
GP00002646
para
P35500
Physiology
F1534S
Aedes albopictus
Asian tiger mosquito - (species)
Aedes albopictus
Asian tiger mosquito - (species) D
para (kdr)
Aedes albopictus
Asian tiger mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes albopictus
Asian tiger mosquito - (species) D
Intraspecific
Candidate Gene
Wu Y; Liu Q; Qi Y ; et al. (2021)
Knockdown Resistance (kdr) Mutations I1532T and F1534S Were Identified in Aedes albopictus Field Pop[...]
GP00002647
para
P35500
Physiology
I1532T
Aedes albopictus
Asian tiger mosquito - (species)
Aedes albopictus
Asian tiger mosquito - (species) D
para (kdr)
Aedes albopictus
Asian tiger mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Fontaine S; Caddoux L; Brazier C ; et al. (2011)
Uncommon associations in target resistance among French populations of Myzus persicae from oilseed r[...]
1 Additional References
GP00002649
para
P35500
Physiology
L932F
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
Pax3
Coloration (white-spotting ; leucism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00002252
PAX3
P23760
Morphology
c.209G>A p.C70Y
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Pax3
Equus caballus
horse - (species)
Published - Accepted by Curator
Pax3
Coloration (white-spotting ; leucism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002253
PAX3
P23760
Morphology
c.95C>G p.Pro32Arg
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Pax3
Equus caballus
horse - (species)
Published - Accepted by Curator
pax3a
Coloration (scales)
Cis-regulatory,
SNP
Tropheops sp. 'red cheek'
(species)
Interspecific
Linkage Mapping
Albertson RC; Powder KE; Hu Y ; et al. (2014)
Genetic basis of continuous variation in the levels and modular inheritance of pigmentation in cichl[...]
GP00001417
pax3a
Q6DHA7
Morphology
C>T SNP within 5UTR
Labeotropheus fuelleborni
blue mbuna - (species)
Tropheops sp. 'red cheek'
(species)
pax3a
Tropheops sp. 'red cheek'
(species)
Published - Accepted by Curator
pax3b
Coloration (scales)
Unknown,
Unknown
Tropheops sp. 'red cheek'
(species)
Interspecific
Linkage Mapping
Albertson RC; Powder KE; Hu Y ; et al. (2014)
Genetic basis of continuous variation in the levels and modular inheritance of pigmentation in cichl[...]
GP00001419
pax3-b
Q0IH87
Morphology
unknown
Labeotropheus fuelleborni
blue mbuna - (species)
Tropheops sp. 'red cheek'
(species)
pax3b
Tropheops sp. 'red cheek'
(species)
Published - Accepted by Curator
pax7a
Coloration (scales)
Cis-regulatory,
Unknown
Labeotropheus trewavasae
(species)
Intraspecific
Candidate Gene
Roberts RB; Moore EC; Kocher TD (2017)
An allelic series at pax7a is associated with colour polymorphism diversity in Lake Malawi cichlid f[...]
GP00001422
Pax7
P47239
Morphology
unknown
Labeotropheus trewavasae
(species)
Labeotropheus trewavasae
(species)
pax7a
Labeotropheus trewavasae
(species)
Published - Accepted by Curator
pax7a
Coloration (scales)
Cis-regulatory,
Unknown
Labeotropheus trewavasae
(species)
Intraspecific
Candidate Gene
Roberts RB; Moore EC; Kocher TD (2017)
An allelic series at pax7a is associated with colour polymorphism diversity in Lake Malawi cichlid f[...]
GP00001423
Pax7
P47239
Morphology
unknown
Labeotropheus trewavasae
(species)
Labeotropheus trewavasae
(species)
pax7a
Labeotropheus trewavasae
(species)
Published - Accepted by Curator
pax7a
Coloration (scales)
Cis-regulatory,
Unknown
Labeotropheus trewavasae
(species)
Intraspecific
Candidate Gene
Roberts RB; Moore EC; Kocher TD (2017)
An allelic series at pax7a is associated with colour polymorphism diversity in Lake Malawi cichlid f[...]
GP00001424
Pax7
P47239
Morphology
unknown
Labeotropheus trewavasae
(species)
Labeotropheus trewavasae
(species)
pax7a
Labeotropheus trewavasae
(species)
Published - Accepted by Curator
pdm3
Coloration (female abdomen)
Cis-regulatory,
Complex Change
Drosophila serrata
(species) D
Intraspecific
Linkage Mapping
Yassin A; Delaney EK; Reddiex AJ ; et al. (2016)
The pdm3 Locus Is a Hotspot for Recurrent Evolution of Female-Limited Color Dimorphism in Drosophila[...]
GP00001400
pdm3
A0A0B4LEG2
Morphology
1st intron variant divergent in length and sequence. Dark haplotype contains four tandem sets of three motifs.
Drosophila serrata
(species)
Drosophila serrata
(species) D
pdm3
Drosophila serrata
(species)
Published - Accepted by Curator
pdm3
Coloration (female abdomen)
Cis-regulatory,
Unknown
Drosophila kikkawai
(species)
Intraspecific
Linkage Mapping
Yassin A; Delaney EK; Reddiex AJ ; et al. (2016)
The pdm3 Locus Is a Hotspot for Recurrent Evolution of Female-Limited Color Dimorphism in Drosophila[...]
GP00001401
pdm3
A0A0B4LEG2
Morphology
associated SNPs occur in the intergenic upstream region except one in the second intron
Drosophila kikkawai
(species)
Drosophila kikkawai
(species)
pdm3
Drosophila kikkawai
(species)
Published - Accepted by Curator
pdm3
Coloration (female abdomen)
Unknown,
Unknown
Drosophila burlai
(species)
Intraspecific
Linkage Mapping
Yassin A; Delaney EK; Reddiex AJ ; et al. (2016)
The pdm3 Locus Is a Hotspot for Recurrent Evolution of Female-Limited Color Dimorphism in Drosophila[...]
GP00001402
pdm3
A0A0B4LEG2
Morphology
unknown
Drosophila burlai
(species)
Drosophila burlai
(species)
pdm3
Drosophila burlai
(species)
Published - Accepted by Curator
pdm3
Coloration (abdomen; male)
Cis-regulatory,
Unknown
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Liu Y; Ramos-Womack M; Han C ; et al. (2019)
Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.
GP00002022
pdm3
A0A0B4LEG2
Morphology
change in a cis-regulatory region - exact causing mutation(s) unknown - increased pdm3 abdominal expression associated with lighter color
Drosophila yakuba
(species)
Drosophila santomea
(species) D
pdm3
Drosophila santomea
(species)
Published - Accepted by Curator
PDSS2
Feather
Cis-regulatory,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Feng C; Gao Y; Dorshorst B ; et al. (2014)
A cis-regulatory mutation of PDSS2 causes silky-feather in chickens.
GP00002254
Q86YH6NULL
Morphology
Only variant explaining homozygous phenotype is c.-103C>G and shown to reduce PDSS2 promoter activity in vitro
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PDSS2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PEPT1
Anti-freezing
Coding,
Unknown
Chionodraco hamatus
Antarctic icefish - (species)
Intergeneric or Higher
Candidate Gene
Rizzello A; Romano A; Kottra G ; et al. (2013)
Protein cold adaptation strategy via a unique seven-amino acid domain in the icefish (Chionodraco ha[...]
GP00000858
slc15a1
Q804I3
Physiology
C-terminal (cytosolic) de novo VDMSRKS domain conferring cold resistance
Teleostei
teleost fishes - (infraclass)
Chionodraco hamatus
Antarctic icefish - (species)
PEPT1
Chionodraco hamatus
Antarctic icefish - (species)
Published - Accepted by Curator
pericarp color1 (P1)
Coloration (seed)
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Lechelt C; Peterson T; Laird A ; et al. (1989)
Isolation and molecular analysis of the maize P locus.
GP00000859
P1
O24579
Morphology
insertion of transposable element Ac within a large intron; affecting transcripts. The five transcripts found in P-RR plants are absent in P-VV. A chimeric transcript containing part of Ac sequence is found.
Zea mays
(species)
Zea mays
(species) D
pericarp color1 (P1)
Zea mays
(species)
Published - Accepted by Curator
Period (per)
Courtship song
Coding,
SNP
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Wheeler DA; Kyriacou CP; Greenacre ML ; et al. (1991)
Molecular transfer of a species-specific behavior from Drosophila simulans to Drosophila melanogaste[...]
3 Additional References
GP00000860
per
P07663
Behavior
A121T and/or K125R and/or E165D and /or V224A
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Period (per)
Drosophila simulans
(species)
Published - Accepted by Curator
Period (per)
Locomotor activity (temperature sensitivity)
Coding,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Sawyer LA; Hennessy JM; Peixoto AA ; et al. (1997)
Natural variation in a Drosophila clock gene and temperature compensation.
GP00002002
per
P07663
Behavior
repeat (Thr-Gly) either 17 times or 20 times within the protein coding sequence
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Period (per)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Period (per)
Diapause
Unknown,
Unknown
Pieris napi
(species)
Intraspecific
Association Mapping
Pruisscher P; Nylin S; Wheat CW ; et al. (2021)
A region of the sex chromosome associated with population differences in diapause induction contains[...]
1 Additional References
GP00002427
per
P07663
Physiology
Multiple amino acid differences. Presence of five fixed SNPs between the N and S populations (one intergenic, two intronic and two exonic nonsynonymous substitutions).
Pieris napi
(species)
Pieris napi
(species)
Period (per)
Pieris napi
(species)
Published - Accepted by Curator
PHO5
Low-phosphate adaptation (experimental evolution)
Gene Amplification,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000863
PHO5
P00635
Physiology
Deletion. Out of 8 lines; 2 distinct lines evolved structural variation at PHO5. (Interestingly; one was a deletion and another one was a gene amplification)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PHO5
Low-phosphate adaptation (experimental evolution)
Gene Amplification,
Insertion
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000864
PHO5
P00635
Physiology
Gene duplication. Out of 8 lines; 2 distinct lines evolved structural variation at PHO5. (Interestingly; one was a deletion and another one was a gene amplification)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PHO84
Xenobiotic resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Perlstein EO; Ruderfer DM; Roberts DC ; et al. (2007)
Genetic basis of individual differences in the response to small-molecule drugs in yeast.
GP00000865
PHO84
P25297
Physiology
L259P
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO84
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Phosphate transporter PHO1
Root growth (allometry of lateral roots)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Rosas U; Cibrian-Jaramillo A; Ristova D ; et al. (2013)
Integration of responses within and across Arabidopsis natural accessions uncovers loci controlling [...]
GP00001284
PHO1
Q8S403
Morphology
histidine to tyrosine @position 8388425 in chromosome III
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Phosphate transporter PHO1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
Coding,
SNP
Alloteropsis
(genus)
Interspecific
Candidate Gene
Christin PA; Edwards EJ; Besnard G ; et al. (2012)
Adaptive evolution of C(4) photosynthesis through recurrent lateral gene transfer.
GP00000866
PPCA
P30694
Physiology
Haplotype of several candidate a.a. ; lateral gene transfer between convergent C4 species
Alloteropsis
(genus)
Alloteropsis
(genus)
phosphoenolpyruvate carboxylase (PEPC)
Alloteropsis
(genus)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
Cis-regulatory,
Insertion
Flaveria trinervia
(species) D
Interspecific
Candidate Gene
Akyildiz M; Gowik U; Engelmann S ; et al. (2007)
Evolution and function of a cis-regulatory module for mesophyll-specific gene expression in the C4 d[...]
GP00000868
PPCA
P30694
Physiology
insertion of tetranucleotide CACT
Flaveria pringlei
(species)
Flaveria trinervia
(species) D
phosphoenolpyruvate carboxylase (PEPC)
Flaveria trinervia
(species)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
Cis-regulatory,
SNP
Flaveria trinervia
(species)
Interspecific
Candidate Gene
Akyildiz M; Gowik U; Engelmann S ; et al. (2007)
Evolution and function of a cis-regulatory module for mesophyll-specific gene expression in the C4 d[...]
GP00000869
PPCA
P30694
Physiology
G->A
Flaveria pringlei
(species)
Flaveria trinervia
(species)
phosphoenolpyruvate carboxylase (PEPC)
Flaveria trinervia
(species)
Published - Accepted by Curator
phytochrome A (PHYA)
Light sensitivity
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Maloof JN; Borevitz JO; Dabi T ; et al. (2001)
Natural variation in light sensitivity of Arabidopsis.
GP00000870
PHYA
P14712
Physiology
M548T
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
phytochrome A (PHYA)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytochrome A-associated F-box protein
Circadian rhythm (phase)
Coding,
Deletion
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Müller NA; Wijnen CL; Srinivasan A ; et al. (2016)
Domestication selected for deceleration of the circadian clock in cultivated tomato.
GP00001287
101247753
K4CV85
Physiology
3bp deletion in CDS causing a 'K (lysine) loss in the highly conserved C terminus of EID1
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species) D
phytochrome A-associated F-box protein
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
phytochrome B (PHYB)
Light sensitivity
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Filiault DL; Wessinger CA; Dinneny JR ; et al. (2008)
Amino acid polymorphisms in Arabidopsis phytochrome B cause differential responses to light.
GP00000871
PHYB
P14713
Physiology
I143L
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
phytochrome B (PHYB)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytochrome B (PHYB)
Light sensitivity
Coding,
Deletion
Sorghum bicolor
sorghum - (species) D
Domesticated
Linkage Mapping
Childs KL; Miller FR; Cordonnier-Pratt MM ; et al. (1997)
The sorghum photoperiod sensitivity gene, Ma3, encodes a phytochrome B.
GP00000872
PHYB
P14713
Physiology
1bp deletion 30bp upstream of the stop codon
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species) D
phytochrome B (PHYB)
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Pi-ta
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Bryan GT; Wu KS; Farrall L ; et al. (2000)
tA single amino acid difference distinguishes resistant and susceptible alleles of the rice blast re[...]
2 Additional References
GP00000876
Pi-ta
C9E6G5
Physiology
Ala918Ser
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi-ta
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi2 (Nbs4-Pi2)
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Zhou B; Qu S; Liu G ; et al. (2006)
The eight amino-acid differences within three leucine-rich repeats between Pi2 and Piz-t resistance [...]
GP00000877
PI2
M1EC06
Physiology
eight amino acid changes - exact causing change(s) unknown
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi2 (Nbs4-Pi2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi36
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Liu X; Lin F; Wang L ; et al. (2007)
The in silico map-based cloning of Pi36, a rice coiled-coil nucleotide-binding site leucine-rich rep[...]
GP00000878
Pi36
D5J6W0
Physiology
Asp590Ser
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi36
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi37
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Lin F; Chen S; Que Z ; et al. (2007)
The blast resistance gene Pi37 encodes a nucleotide binding site leucine-rich repeat protein and is [...]
GP00000879
Pi37
Q06AJ9
Physiology
V239A and I247M are the only amino acid substitutions found in all tested resistant strains- the effect of each individual amino acid change has not been tested
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi37
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi5-1 + Pi5-2 cluster
Pathogen resistance
Coding,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Lee SK; Song MY; Seo YS ; et al. (2009)
Rice Pi5-mediated resistance to Magnaporthe oryzae requires the presence of two coiled-coil-nucleoti[...]
GP00000880
Pi5-1
C3SBK3
Physiology
In genetic transformation experiments of a susceptible rice cultivar neither the Pi5-1 nor the Pi5-2 gene was found to confer resistance to M. oryzae. In contrast transgenic rice plants expressing both of these genes (generated by crossing transgenic lines carrying each gene individually) conferred Pi5-mediated resistance to M. oryzae
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi5-1 + Pi5-2 cluster
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi9 (= Nbs2-Pi9)
Pathogen resistance
Coding,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Qu S; Liu G; Zhou B ; et al. (2006)
The broad-spectrum blast resistance gene Pi9 encodes a nucleotide-binding site-leucine-rich repeat p[...]
GP00000881
Pi9
Q1WGB0
Physiology
Coding variation; necessary for resistance in completementation assay
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi9 (= Nbs2-Pi9)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pikm1-TS + Pikm2-TS cluster
Pathogen resistance
Coding,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ashikawa I; Hayashi N; Yamane H ; et al. (2008)
Two adjacent nucleotide-binding site-leucine-rich repeat class genes are required to confer Pikm-spe[...]
1 Additional References
GP00000884
PIKM1-TS
B5UBC1
Physiology
Coding variation in both genes; with alleles of both genes necessary for resistance in completementation assays
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pikm1-TS + Pikm2-TS cluster
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pit
Pathogen resistance (rice blast disease; fungal pathogen; Magnaporthe grisea)
Cis-regulatory,
Insertion
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Hayashi K; Yoshida H (2009)
Refunctionalization of the ancient rice blast disease resistance gene Pit by the recruitment of a re[...]
GP00002052
Pit
B9A1G4
Physiology
insertion of a 5.5-kb LTR retrotransposon Renovator upstream of the gene (256‐bp upstream of the predicted start codon for NBSt2K59; in the same orientation as the gene)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Pit
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pitx1
Limb Identity (feathered feet)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Kronenberg Z; Infante CR ; et al. (2016)
Molecular shifts in limb identity underlie development of feathered feet in two domestic avian speci[...]
GP00000885
PITX1
P56673
Morphology
44kb deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Pitx1
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000886
Pitx1
P70314
Morphology
488bp promoter region : deletion 1 ; 5 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000887
Pitx1
P70314
Morphology
488bp promoter region : deletion 2 ; 757bp deletion present in the pelvic-reduced BEPA population from Alaska
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000888
Pitx1
P70314
Morphology
488bp promoter region : deletion 3 ; 3.5 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000889
Pitx1
P70314
Morphology
488bp promoter region : deletion 4 ; 757 bp deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000890
Pitx1
P70314
Morphology
488bp promoter region : deletion 5 ; 2 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000891
Pitx1
P70314
Morphology
488bp promoter region : deletion 6 ; 973bp deletion present in the Hump Lake AK pelvic-reduced population (HUMP)
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000892
Pitx1
P70314
Morphology
488bp promoter region : deletion 7 ; 1868bp deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000893
Pitx1
P70314
Morphology
488bp promoter region : deletion 8 ; 8 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000894
Pitx1
P70314
Morphology
488bp promoter region : deletion 9 ; 8 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Piz-t
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Zhou B; Qu S; Liu G ; et al. (2006)
The eight amino-acid differences within three leucine-rich repeats between Pi2 and Piz-t resistance [...]
GP00000895
Piz-t
Q0H213
Physiology
Coding variation in the LRR domain
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Piz-t
Oryza sativa
rice - (species)
Published - Accepted by Curator
PLAG1
Body size (height; weight)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Karim L; Takeda H; Lin L ; et al. (2011)
Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine statur[...]
GP00001569
PLAG1
E1BEA5
Morphology
a (CCG)n trinucleotide repeat with 9> 11 copies and a SNP A>G immediately upstream of PLAG1 transcriptional start site
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
PLAG1
Bos taurus
cattle - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001300
PMA1
P05030
Physiology
A>T (Phe > Ile) @ position 1831
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001301
PMA1
P05030
Physiology
T>G (Thr > Pro) @ position 2197
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Plasma membrane ATPase 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001302
PMA1
P05030
Physiology
G>T (Ala > Asp) @ position 2204
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Plasma membrane ATPase 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
plep-1
Male-male copulatory behavior
Coding,
SNP
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Noble LM; Chang AS; McNelis D ; et al. (2015)
Natural Variation in plep-1 Causes Male-Male Copulatory Behavior in C. elegans.
GP00000897
plep-1
A0A0K3AR66
Behavior
V278D
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
plep-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Pm3
Pathogen resistance
Coding,
SNP
Triticum aestivum
bread wheat - (species)
Intraspecific
Linkage Mapping
Yahiaoui N; Kaur N; Keller B (2009)
Independent evolution of functional Pm3 resistance genes in wild tetraploid wheat and domesticated b[...]
1 Additional References
GP00000899
PM3
C1K3M2
Physiology
Various substitution haplotypes - exact causing amino acid change(s) unknown - in hexaploid bread wheat one amino acid change in a solvent‐exposed residue of LRR27 (E1334 to V1334) was sufficient to convert the susceptible Pm3CS into a functional resistance allele (Yahiaoui et al., 2006).
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Pm3
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
2 Additional References
GP00000900
PMA1
P05030
Physiology
Leu363Trp
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
2 Additional References
GP00000901
PMA1
P05030
Physiology
Ser234Cys
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000902
PMA1
P05030
Physiology
Val127Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000903
PMA1
P05030
Physiology
Val157Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000904
PMA1
P05030
Physiology
Gly294Val
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000905
PMA1
P05030
Physiology
Gly337Ser
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000906
PMA1
P05030
Physiology
Met530Ile
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000907
PMA1
P05030
Physiology
Pro535Thr
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000908
PMA1
P05030
Physiology
Iso564Thr
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000909
PMA1
P05030
Physiology
Ala732Val
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000910
PMA1
P05030
Physiology
Trp750Cys
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000911
PMEL
Q98917
Morphology
deletion of amino acids 731-735
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000912
PMEL
Q98917
Morphology
deletion of amino acids 280-284
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000913
PMEL
Q98917
Morphology
insertion of amino acid 723-725 due to a 9bp-insert in exon 10
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
Deletion
Bos grunniens
domestic yak - (species) D
Domesticated
Candidate Gene
Zhang MQ; Xu X; Luo SJ (2014)
The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).
GP00001365
PMEL
P40967
Morphology
c.50_52del p.Leu18del in signal peptide
Bos grunniens
domestic yak - (species)
Bos grunniens
domestic yak - (species) D
PMEL17
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Gutiérrez-Gil B; Wiener P; Williams JL (2007)
Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-B[...]
GP00002027
PMEL
Q06154
Morphology
g.57669926G>A c.64G>A p.Gly22Arg
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
PMEL17
Bos taurus
cattle - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
Deletion
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
Domesticated
Candidate Gene
Jolly RD; Wills JL; Kenny JE ; et al. (2008)
Coat-colour dilution and hypotrichosis in Hereford crossbred calves.
GP00002028
PMEL
Q06154
Morphology
3bp deletion - g.57669913_57669915delTTC - c.50_52delTTC - p.Leu19del
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
PMEL17
Bos taurus
cattle - (species)
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Clark LA; Wahl JM; Rees CA ; et al. (2006)
Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.
GP00002072
Pmel
Q60696
Morphology
due to a short interspersed element (SINE) insertion at the intron 10/exon 11 boundary. The SINE segregates with the merle phenotype in multiple breeds (Collie, Border Collie, Australian Shepherd, Cardigan Welsh Corgi, Dachshund, and Great Dane) and is absent from dogs representing breeds that do not have merle patterning. All examined harlequin Great Danes harbored the insertion in either a heterozygous or homozygous state.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
Insertion
Mus musculus
house mouse - (species) D
Domesticated
Linkage Mapping
Kwon BS; Halaban R; Ponnazhagan S ; et al. (1995)
Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pme[...]
GP00002101
Pmel
Q60696
Morphology
single nucleotide (A) insertion in the putative cytoplasmic tail of the si/si Pmel 17 cDNA clone. This insertion is predicted to alter the last 24 amino acids at the C-terminus. Also predicted is the extension of the Pmel 17 protein by 12 residues because a new termination signal is created downstream from the wild-type reading frame. The silver pmel 17 protein has a major defect at the carboxyl terminus.
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
PMEL17
Mus musculus
house mouse - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002266
Pmel
Q60696
Morphology
Allele of the Merle SINE insertaiion : Mc (208-230bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002267
Pmel
Q60696
Morphology
Allele of the Merle SINE insertion : Mc+ (231-245bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002268
Pmel
Q60696
Morphology
Allele of the Merle SINE insertion : Ma (247-254bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002269
Pmel
Q60696
Morphology
Allele of the Merle SINE insertion : Ma+ (255-264bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002270
Pmel
Q60696
Morphology
Allele of the Merle SINE insertion : Mh (269-277bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Brunberg E; Andersson L; Cothran G ; et al. (2006)
A missense mutation in PMEL17 is associated with the Silver coat color in the horse.
4 Additional References
GP00002271
Pmel
Q60696
Morphology
g.73665304C>T p.R625C
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
PMEL17
Equus caballus
horse - (species)
Published - Accepted by Curator
PMR1
Metal tolerance (manganese)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Sadhu MJ; Bloom JS; Day L ; et al. (2016)
CRISPR-directed mitotic recombination enables genetic mapping without crosses.
GP00000914
PMR1
P13586
Physiology
Leu548Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMR1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Indel
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Medugorac I; Seichter D; Graf A ; et al. (2012)
Bovine polledness--an autosomal dominant trait with allelic heterogeneity.
2 Additional References
GP00000916
Morphology
complex 202-bp insertion-deletion in a non-coding region resulting in a long non-coding RNA (lncRNA) ectopic expression
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
POLLED locus
Bos taurus
cattle - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Medugorac I; Seichter D; Graf A ; et al. (2012)
Bovine polledness--an autosomal dominant trait with allelic heterogeneity.
3 Additional References
GP00002029
Morphology
a 80kb duplication is the "single causal mutation" in Holstein-Friesian cattle complex
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
POLLED locus
Bos taurus
cattle - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Complex Change
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
Domesticated
Association Mapping
Medugorac I; Graf A; Grohs C ; et al. (2017)
Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mo[...]
GP00002030
Morphology
a complex 219-bp duplication–insertion (P219ID) beginning at 1;976;128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position. This rearrangement results in duplication of an 11-bp motif (5′-AAAGAAGCAAA-3′) that is entirely conserved among Bovidae and that is also duplicated in the 80-kb duplication responsible for Friesian polledness.
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
POLLED locus
Bos taurus
cattle - (species)
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Utsunomiya YT; Torrecilha RBP; Milanesi M ; et al. (2019)
Hornless Nellore cattle (Bos indicus) carrying a novel 110 kbp duplication variant of the polled loc[...]
GP00002031
Morphology
duplication of the region BTA1: 1;893;790–2;004;553 (about 110 kb)
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
POLLED locus
Bos taurus
cattle - (species)
Published - Accepted by Curator
PPAR-delta
Ear size
Skin aspect
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Ren J; Duan Y; Qiao R ; et al. (2011)
A missense mutation in PPARD causes a major QTL effect on ear size in pigs.
GP00000919
PPARD
Q03181
Morphology
Morphology
G32E
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
PPAR-delta
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
PPAR-gamma
Fertility
Cis-regulatory,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Hoedjes KM; Kostic H; Flatt T ; et al. (2023)
A Single Nucleotide Variant in the PPARγ-homolog Eip75B Affects Fecundity in Drosophila.
GP00002664
Eip75B
P17672
Physiology
This SNP is biallelic with the “T” variant being more common in the late-reproducing long-lived populations (average frequency: 0.84 “T” / 0.16 “G”) as compared to the early-reproducing populations (average frequency: 0.52 “T” / 0.48 “G”).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
PPAR-gamma
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
PRDM9
Recombination rate (male)
Coding,
Deletion
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001640
PRDM9
A6QNW2
Physiology
variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: 22 domains > 20 domains decreasing 6-fold Genome wide hot window usage in Crossing Over
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PRDM9
Bos taurus
cattle - (species)
Published - Accepted by Curator
PRDM9
Recombination rate (male)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001641
PRDM9
A6QNW2
Physiology
variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: T68A p.I23K in domain 11 has a major effect. K allele decreasing 30-fold Genome wide hot window usage in Crossing Over compared to I allele
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PRDM9
Bos taurus
cattle - (species)
Published - Accepted by Curator
PRDM9
Recombination rate (male)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001642
PRDM9
A6QNW2
Physiology
variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: T20C p.A>Y sustitutions in domains 14. Y allele increasing 6-fold Genome wide hot window usage in Crossing Over
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
PRDM9
Bos taurus
cattle - (species)
Published - Accepted by Curator
prodynorphin (PDYN)
Neuroendocronological homeostasis
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Rockman MV; Hahn MW; Soranzo N ; et al. (2005)
Ancient and recent positive selection transformed opioid cis-regulation in humans.
1 Additional References
GP00000924
PDYN
P01213
Physiology
up to 5 polymorphisms in 5' regulatory region
Primates
(order)
Homo sapiens
human - (species)
prodynorphin (PDYN)
Homo sapiens
human - (species)
Published - Accepted by Curator
Prolactin
Hair length (long)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Littlejohn MD; Henty KM; Tiplady K ; et al. (2014)
Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.
GP00002032
PRL
P01239
Morphology
g.35105313A>C - c.661A>C - p.C221G
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Prolactin
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin (deciduous Prolactin; dPRL)
Gene expression change (quantitative; increase)
Cis-regulatory,
SNP
Homininae
(subfamily)
Intergeneric or Higher
Candidate Gene
Emera D; Wagner GP (2012)
Transformation of a transposon into a derived prolactin promoter with function during human pregnanc[...]
GP00000926
PRL
P01236
Physiology
Acquisition of enhancer activity in transposons via several base-pair substitutions
Primates
(order)
Homininae
(subfamily)
Prolactin (deciduous Prolactin; dPRL)
Homininae
(subfamily)
Published - Accepted by Curator
Prolactin receptor
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Candidate Gene
Viitala S; Szyda J; Blott S ; et al. (2006)
The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...]
GP00000927
PRLR
P16471
Physiology
Ser18Asn
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
Prolactin receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
Prolactin receptor
Feather (slow-feathering ; delay)
Other,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Elferink MG; Vallée AA; Jungerius AP ; et al. (2008)
Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken.
1 Additional References
GP00002280
PRLR
P16471
Morphology
tandem duplication of 176324 basepairs resulting in a partially duplicated PRLR (dPRLR) gene nearly identical to the original PRLR ; except for its lack of a 149-amino acid C-terminal tail - which may titrate PRL ligands and act as a dominant-negative receptor
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Prolactin receptor
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Prolactin receptor
Feather (slow-feathering ; delay)
Coding,
Deletion
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Association Mapping
Derks MFL; Herrero-Medrano JM; Crooijmans RPMA ; et al. (2018)
Early and late feathering in turkey and chicken: same gene but different mutations.
GP00002281
PRLR
P16471
Morphology
g.9426018_9426022delTTGGT p.Glu726Aspfs*7 truncated PRLR protein that lacks 98 C-terminal AA ; this truncated PRLR protein is strikingly similar to the protein encoded by the slow feathering K allele in chicken
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
Prolactin receptor
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
Prolactin receptor
Fertility
Cis-regulatory,
Insertion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Sironen A; Fischer D; Laiho A ; et al. (2014)
A recent L1 insertion within SPEF2 gene is associated with changes in PRLR expression in sow reprodu[...]
1 Additional References
GP00002339
PRLR
P16471
Physiology
L1 insertion in sperm-factor SPEF2 gene causes sperm defect but also downregulation of PRLR
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
Prolactin receptor
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Proline specific permease PUT4
Nitrogen use (growth rate on proline)
Cis-regulatory,
Unknown
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.
GP00001501
PUT4
P15380
Physiology
several synonymous and promoter mutations
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Proline specific permease PUT4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
prolyl endopeptidase (PREP)
Coloration (scales)
Cis-regulatory,
Unknown
Uta stansburiana
(species) D
Intraspecific
Association Mapping
Corl A; Bi K; Luke C ; et al. (2018)
The Genetic Basis of Adaptation following Plastic Changes in Coloration in a Novel Environment.
GP00002108
PREP
P48147
Morphology
no coding mutation associated with the phenotype - 2 differentiated SNPs in introns and one is a synonymous change.
Uta stansburiana
(species)
Uta stansburiana
(species) D
prolyl endopeptidase (PREP)
Uta stansburiana
(species)
Published - Accepted by Curator
prophenoloxidase 1 (PPO1)
Enzymatic activity
Unknown,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Asada N (1997)
Genetic variants affecting phenoloxidase activity in Drosophila melanogaster.
GP00002001
Physiology
Exact causing mutation(s) unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
prophenoloxidase 1 (PPO1)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A)
Coloration (scales)
Cis-regulatory,
Unknown
Uta stansburiana
(species) D
Intraspecific
Association Mapping
Corl A; Bi K; Luke C ; et al. (2018)
The Genetic Basis of Adaptation following Plastic Changes in Coloration in a Novel Environment.
GP00002109
Prkar1a
Q9DBC7
Morphology
no coding mutation associated with the phenotype - one differentiated SNP in an intron in the 5' UTR
Uta stansburiana
(species)
Uta stansburiana
(species) D
protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A)
Uta stansburiana
(species)
Published - Accepted by Curator
protein phosphatase
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001534
PF3D7_1012700
Q8IJR8
Physiology
p.Val1157Leu
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
protein phosphatase
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
protoporphyrinogen oxidase (PPO2 = PPX2L)
Xenobiotic resistance (herbicides)
Coding,
Deletion
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt WL; Hager AG; McCormick JS ; et al. (2006)
A codon deletion confers resistance to herbicides inhibiting protoporphyrinogen oxidase.
GP00000929
PPX2L
Q0NZW6
Physiology
3bp deletion; deletion of G210
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
protoporphyrinogen oxidase (PPO2 = PPX2L)
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37
Flowering time
Coding,
SNP
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Murphy RL; Klein RR; Morishige DT ; et al. (2011)
Coincident light and clock regulation of pseudoresponse regulator protein 37 (PRR37) controls photop[...]
GP00000932
PRR37
Q0D3B6
Physiology
K162N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
PRR37 pseudoresponse regulator protein 37
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
PSMB7
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies)
Domesticated
Linkage Mapping
Clark LA; Tsai KL; Starr AN ; et al. (2011)
A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning[...]
GP00000936
Psmb7
P70195
Morphology
c.146T>G p.V6G
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
PSMB7
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PSST
Xenobiotic resistance (METI-I acaricide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Bajda S; Dermauw W; Panteleri R ; et al. (2017)
A mutation in the PSST homologue of complex I (NADH:ubiquinone oxidoreductase) from Tetranychus urti[...]
GP00002635
ND-20
Q9VXK7
Physiology
H92R
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
PSST
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
PSST
Xenobiotic resistance (METI-I acaricide)
Coding,
SNP
Panonychus citri
citrus red mite - (species) D
Intraspecific
Candidate Gene
Alavijeh ES; Khajehali J; Snoeck S ; et al. (2020)
Molecular and genetic analysis of resistance to METI-I acaricides in Iranian populations of the citr[...]
GP00002636
ND-20
Q9VXK7
Physiology
H92R
Panonychus citri
citrus red mite - (species)
Panonychus citri
citrus red mite - (species) D
PSST
Panonychus citri
citrus red mite - (species)
Published - Accepted by Curator
Ptch1
Limb morphology (skeleton)
Cis-regulatory,
Unknown
Bos taurus
cattle - (species) D
Intergeneric or Higher
Candidate Gene
Lopez-Rios J; Duchesne A; Speziale D ; et al. (2014)
Attenuated sensing of SHH by Ptch1 underlies evolution of bovine limbs.
GP00001389
Ptch1
Q61115
Morphology
LRM enhancer located between coding exons 15 and 19 at 37 kb of the transcription start site - exact causing mutation(s) unknown - Loss of activity of the LRM enhancer that normally upregulates Ptch1 expression in the limb-bud mesenchyme in response to SHH signalling
Mus musculus
house mouse - (species)
Bos taurus
cattle - (species) D
Ptch1
Bos taurus
cattle - (species)
Published - Accepted by Curator
PTPN1
High-altitude adaptation
Coding,
SNP
Locusta migratoria
migratory locust - (species) D
Intraspecific
Association Mapping
Ding D; Liu G; Hou L ; et al. (2018)
Genetic variation in PTPN1 contributes to metabolic adaptation to high-altitude hypoxia in Tibetan m[...]
GP00002668
P18031NULL
Physiology
one nonsynonymous mutation (c.1046A>T) in PTPN1 in Tibetan locusts which encodes the amino acid substitution p.Asn349Ile at the proline (Pro)-rich domain of PTP1B.
Locusta migratoria
migratory locust - (species)
Locusta migratoria
migratory locust - (species) D
PTPN1
Locusta migratoria
migratory locust - (species)
Published - Accepted by Curator
PTS/TKD1
Leaf shape
Cis-regulatory,
Deletion
Solanum galapagense
(species) D
Interspecific
Linkage Mapping
Kimura S; Koenig D; Kang J ; et al. (2008)
Natural variation in leaf morphology results from mutation of a novel KNOX gene.
GP00000938
PTS
B2Y2G9
Morphology
1bp deletion at -1232 from start Met
Solanum cheesmaniae
(species)
Solanum galapagense
(species) D
PTS/TKD1
Solanum galapagense
(species)
Published - Accepted by Curator
PVX_101445
Xenobiotic resistance (chloroquine)
Gene Amplification,
Insertion
Plasmodium vivax
malaria parasite P. vivax - (species) D
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001483
PVX_101445
A5K913
Physiology
3 kb duplication on chromosome 14 that includes PVX_101445
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species) D
PVX_101445
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
Q = wheat AP2-like (WAP2)
Inflorescence morphology
Spike morphology
Coding,
SNP
Triticum turgidum
(species)
Domesticated
Linkage Mapping
Simons KJ; Fellers JP; Trick HN ; et al. (2006)
Molecular characterization of the major wheat domestication gene Q.
GP00000940
WANT1
C1PH82
Morphology
Morphology
V329I
Triticum turgidum
(species)
Triticum turgidum
(species)
Q = wheat AP2-like (WAP2)
Triticum turgidum
(species)
Published - Accepted by Curator
qSH1
Seed shattering
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Konishi S; Izawa T; Lin SY ; et al. (2006)
An SNP caused loss of seed shattering during rice domestication.
GP00000942
qSH1
Q941S9
Physiology
1bp change
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
qSH1
Oryza sativa
rice - (species)
Published - Accepted by Curator
qSH1 (REPLUMLESS)
Seed shattering
Cis-regulatory,
SNP
Brassicaceae
mustard family - (family)
Interspecific
Candidate Gene
Arnaud N; Lawrenson T; Østergaard L ; et al. (2011)
The same regulatory point mutation changed seed-dispersal structures in evolution and domestication.
GP00000943
qSH1
Q941S9
Physiology
1bp change
Brassicaceae
mustard family - (family)
Brassicaceae
mustard family - (family)
qSH1 (REPLUMLESS)
Brassicaceae
mustard family - (family)
Published - Accepted by Curator
r1 colored1
Coloration (seeds)
Unknown,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Hanson MA; Gaut BS; Stec AO ; et al. (1996)
Evolution of anthocyanin biosynthesis in maize kernels: the role of regulatory and enzymatic loci.
1 Additional References
GP00000947
Z138B04_Z333J11.11
Q8S483
Morphology
insertion of transposable element Ac
Zea mays
(species)
Zea mays
(species) D
r1 colored1
Zea mays
(species)
Published - Accepted by Curator
RAD5
Xenobiotic resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Demogines A; Smith E; Kruglyak L ; et al. (2008)
Identification and dissection of a complex DNA repair sensitivity phenotype in Baker's yeast.
1 Additional References
GP00000950
RAD5
P32849
Physiology
I791S
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
RAD5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RALY (hnRNP associated with lethal yellow)
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus
gray wolf - (species) D
Intraspecific
Association Mapping
Dreger DL; Parker HG; Ostrander EA ; et al. (2013 May-Jun)
Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in [...]
GP00001366
RALY
Q9UKM9
Morphology
16 bpduplication g.1875_1890dupCCCCAGGTCAGAGTTT in intron
Canis lupus
gray wolf - (species)
Canis lupus
gray wolf - (species) D
RALY (hnRNP associated with lethal yellow)
Canis lupus
gray wolf - (species)
Published - Accepted by Curator
RAS1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000952
RAS2
P01120
Physiology
Glu>Ala (A>C mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS2
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000954
RAS2
P01120
Physiology
Gly>Ser (C>T mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS2
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000955
RAS2
P01120
Physiology
Glu>Gln (C>G mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS2
Sporulation efficiency
Cis-regulatory,
Insertion
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Ben-Ari G; Zenvirth D; Sherman A ; et al. (2006)
Four linked genes participate in controlling sporulation efficiency in budding yeast.
GP00000956
RAS2
P01120
Physiology
1bp insertion in promoter
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RCR3
Pathogen resistance
Coding,
SNP
Solanum peruvianum
(species)
Intraspecific
Candidate Gene
Hörger AC; Ilyas M; Stephan W ; et al. (2012)
Balancing selection at the tomato RCR3 Guardee gene family maintains variation in strength of pathog[...]
GP00000963
Rcr3
Q8S333
Physiology
Candidate amino acid changes are I206K and/or Q222E and/or S330A
Solanum peruvianum
(species)
Solanum peruvianum
(species)
RCR3
Solanum peruvianum
(species)
Published - Accepted by Curator
RDO5 REDUCED DORMANCY5
Seed dormancy
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Xiang Y; Song B; Née G ; et al. (2016)
Sequence Polymorphisms at the REDUCED DORMANCY5 Pseudophosphatase Underlie Natural Variation in Arab[...]
1 Additional References
GP00001246
At4g11040
Q9T010
Physiology
G892A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RDO5 REDUCED DORMANCY5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Rds2
Oxidative stress resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Diezmann S; Dietrich FS (2011)
Oxidative stress survival in a clinical Saccharomyces cerevisiae isolate is influenced by a major qu[...]
GP00000964
RDS2
P19541
Physiology
H251D
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
Rds2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
REC114
Recombination rate
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001661
REC114
Q7Z4M0
Physiology
On chromosome 10. Associated SNP located dowstream of the gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
REC114
Bos taurus
cattle - (species)
Published - Accepted by Curator
REC8
Recombination rate (male)
Cis-regulatory,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001638
REC8
E1BL69
Physiology
A>G in intron 12 with reduction in Genome-wide recombination rate
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
REC8
Bos taurus
cattle - (species)
Published - Accepted by Curator
ref(2)P
Pathogen resistance (sigma virus)
Coding,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Dru P; Bras F; Dezélée S ; et al. (1993)
Unusual variability of the Drosophila melanogaster ref(2)P protein which controls the multiplication[...]
2 Additional References
GP00001994
ref(2)P
P14199
Physiology
Several differences (SNP and indels) are detected between permissive ref(2)Po and restrictive ref(2)Pn strains. Exact causing mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
ref(2)P
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ref(2)P
Pathogen resistance (sigma virus)
Coding,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Dru P; Bras F; Dezélée S ; et al. (1993)
Unusual variability of the Drosophila melanogaster ref(2)P protein which controls the multiplication[...]
2 Additional References
GP00001995
ref(2)P
P14199
Physiology
Several differences (SNP and indels) are detected between permissive ref(2)Po and restrictive ref(2)Pp strains. Exact causing mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
ref(2)P
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Resistance related Kinase 1 (RKS1)
Pathogen resistance (plant bacteria)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Huard-Chauveau C; Perchepied L; Debieu M ; et al. (2013)
An atypical kinase under balancing selection confers broad-spectrum disease resistance in Arabidopsi[...]
GP00001599
F15B8.100
Q9SVY5
Physiology
a single-SNP difference in the coding region resulting in an amino acid change in the activation segment relative to the catalytic kinase loop. Other polymorphisms were found in the 5' and 3' regulatory regions. RKS1-L expression is 235.1 fold higher
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Resistance related Kinase 1 (RKS1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Thompson M; Shotkoski F; ffrench-Constant R (1993)
Cloning and sequencing of the cyclodiene insecticide resistance gene from the yellow fever mosquito [...]
GP00000968
Rdl
P25123
Physiology
Ala302Ser
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
resistance to dieldrin
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles arabiensis
(species) D
Intraspecific
Candidate Gene
Du W; Awolola TS; Howell P ; et al. (2005)
Independent mutations in the Rdl locus confer dieldrin resistance to Anopheles gambiae and An. arabi[...]
GP00000969
Rdl
P25123
Physiology
Ala302Ser
Anopheles arabiensis
(species)
Anopheles arabiensis
(species) D
resistance to dieldrin
Anopheles arabiensis
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Du W; Awolola TS; Howell P ; et al. (2005)
Independent mutations in the Rdl locus confer dieldrin resistance to Anopheles gambiae and An. arabi[...]
GP00000970
Rdl
P25123
Physiology
Ala302Gly
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
resistance to dieldrin
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Anthony NM; Brown JK; Markham PG ; et al. (1995
)
Molecular analysis of cyclodiene resistance-associated mutations among populations of the sweetpotat[...]
1 Additional References
GP00000971
Rdl
P25123
Physiology
2 mutations
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
resistance to dieldrin
Bemisia tabaci
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Kaku K; Matsumura F (1994)
Identification of the site of mutation within the M2 region of the GABA receptor of the cyclodiene-r[...]
GP00000972
Rdl
P25123
Physiology
Ala302Ser
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
resistance to dieldrin
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Ctenocephalides felis
cat flea - (species) D
Intraspecific
Candidate Gene
Bass C; Schroeder I; Turberg A ; et al. (2004)
Identification of the Rdl mutation in laboratory and field strains of the cat flea, Ctenocephalides [...]
GP00000973
Rdl
P25123
Physiology
Ala302Ser
Ctenocephalides felis
cat flea - (species)
Ctenocephalides felis
cat flea - (species) D
resistance to dieldrin
Ctenocephalides felis
cat flea - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Ffrench-Constant RH; Rocheleau TA; Steichen JC ; et al. (1993)
A point mutation in a Drosophila GABA receptor confers insecticide resistance.
2 Additional References
GP00000974
Rdl
P25123
Physiology
Ala302Ser - G9155164T
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
resistance to dieldrin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Lee HJ; Rocheleau T; Zhang HG ; et al. (1993)
Expression of a Drosophila GABA receptor in a baculovirus insect cell system. Functional expression [...]
1 Additional References
GP00000975
Rdl
P25123
Physiology
Ala302Ser
Drosophila simulans
(species)
Drosophila simulans
(species) D
resistance to dieldrin
Drosophila simulans
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Lee HJ; Rocheleau T; Zhang HG ; et al. (1993)
Expression of a Drosophila GABA receptor in a baculovirus insect cell system. Functional expression [...]
1 Additional References
GP00000976
Rdl
P25123
Physiology
Ala302Gly
Drosophila simulans
(species)
Drosophila simulans
(species) D
resistance to dieldrin
Drosophila simulans
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Hypothenemus hampei
coffee berry borer - (species) D
Intraspecific
Candidate Gene
Brun LO; Stuart J; Gaudichon V ; et al. (1995)
Functional haplodiploidy: a mechanism for the spread of insecticide resistance in an important inter[...]
2 Additional References
GP00000977
Rdl
P25123
Physiology
Ala302Ser
Hypothenemus hampei
coffee berry borer - (species)
Hypothenemus hampei
coffee berry borer - (species) D
resistance to dieldrin
Hypothenemus hampei
coffee berry borer - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Thompson M; Steichen JC; ffrench-Constant RH (1993)
Conservation of cyclodiene insecticide resistance-associated mutations in insects.
GP00000978
Rdl
P25123
Physiology
Ala302Ser
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
resistance to dieldrin
Musca domestica
house fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Anthony N; Unruh T; Ganser D ; et al. (1998)
Duplication of the Rdl GABA receptor subunit gene in an insecticide-resistant aphid, Myzus persicae.
GP00000979
Rdl
P25123
Physiology
Ala302Gly
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
resistance to dieldrin
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Periplaneta americana
American cockroach - (species) D
Intraspecific
Candidate Gene
Thompson M; Steichen JC; ffrench-Constant RH (1993)
Conservation of cyclodiene insecticide resistance-associated mutations in insects.
GP00000980
Rdl
P25123
Physiology
Ala302Ser
Periplaneta americana
American cockroach - (species)
Periplaneta americana
American cockroach - (species) D
resistance to dieldrin
Periplaneta americana
American cockroach - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Tribolium castaneum
red flour beetle - (species)
Intraspecific
Candidate Gene
Miyazaki M; Matsumura F; Beeman RW (1995)
DNA sequence and site of mutation of the GABA receptor of cyclodiene-resistant red flour beetle, Tri[...]
1 Additional References
GP00000981
Rdl
P25123
Physiology
Ala302Ser
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species)
resistance to dieldrin
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Le Goff G; Hamon A; Bergé JB ; et al. (2005)
Resistance to fipronil in Drosophila simulans: influence of two point mutations in the RDL GABA rece[...]
GP00001981
Rdl
P25123
Physiology
2 mutations
Drosophila simulans
(species)
Drosophila simulans
(species) D
resistance to dieldrin
Drosophila simulans
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
ffrench-Constant RH; Steichen JC; Rocheleau TA ; et al. (1993)
A single-amino acid substitution in a gamma-aminobutyric acid subtype A receptor locus is associated[...]
GP00001982
Rdl
P25123
Physiology
Ala301Ser - The lesion in the RdlMD-RR allele has been described as A302S in print but the amino acid replacement is actually A301S.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
resistance to dieldrin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Remnant EJ; Good RT; Schmidt JM ; et al. (2013)
Gene duplication in the major insecticide target site, Rdl, in Drosophila melanogaster.
GP00002452
Rdl
P25123
Physiology
113-kb duplication containing one WT copy of Rdl and a second copy with two point mutations: an Ala(301) to Ser resistance mutation and Met(360) to Ile replacement. Individuals with this duplication exhibit intermediate dieldrin resistance compared with single copy Ser(301) homozygotes and reduced temperature sensitivity and altered RNA editing associated with the resistant allele. Ectopic recombination between Roo transposable elements is involved in generating this genomic rearrangement. The duplication phenotypes were confirmed by construction of a transgenic artificial duplication integrating the 55.7-kb Rdl locus with a Ser(301) change into an Ala(301) background.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
resistance to dieldrin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Wondji CS; Dabire RK; Tukur Z ; et al. (2011)
Identification and distribution of a GABA receptor mutation conferring dieldrin resistance in the ma[...]
GP00002557
Rdl
P25123
Physiology
2 mutations
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
resistance to dieldrin
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Domingues LN; Guerrero FD; Becker ME ; et al. (2013)
Discovery of the Rdl mutation in association with a cyclodiene resistant population of horn flies, H[...]
1 Additional References
GP00002558
Rdl
P25123
Physiology
Ala301Ser
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
resistance to dieldrin
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Tantely ML; Tortosa P; Alout H ; et al. (2010)
Insecticide resistance in Culex pipiens quinquefasciatus and Aedes albopictus mosquitoes from La Réu[...]
1 Additional References
GP00002559
Rdl
P25123
Physiology
Ala301Ser
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
resistance to dieldrin
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes albopictus
Asian tiger mosquito - (species) D
Intraspecific
Candidate Gene
Tantely ML; Tortosa P; Alout H ; et al. (2010)
Insecticide resistance in Culex pipiens quinquefasciatus and Aedes albopictus mosquitoes from La Réu[...]
1 Additional References
GP00002560
Rdl
P25123
Physiology
Ala301Ser
Aedes albopictus
Asian tiger mosquito - (species)
Aedes albopictus
Asian tiger mosquito - (species) D
resistance to dieldrin
Aedes albopictus
Asian tiger mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Laodelphax striatellus
small brown planthopper - (species) D
Intraspecific
Candidate Gene
Nakao T; Kawase A; Kinoshita A ; et al. (2011)
The A2'N mutation of the RDL gamma-aminobutyric acid receptor conferring fipronil resistance in Laod[...]
1 Additional References
GP00002561
Rdl
P25123
Physiology
A301N
Laodelphax striatellus
small brown planthopper - (species)
Laodelphax striatellus
small brown planthopper - (species) D
resistance to dieldrin
Laodelphax striatellus
small brown planthopper - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Experimental Evolution
Candidate Gene
Li A; Yang Y; Wu S ; et al. (2006)
Investigation of resistance mechanisms to fipronil in diamondback moth (Lepidoptera: Plutellidae).
1 Additional References
GP00002562
Rdl
P25123
Physiology
A302(GGC)--> S302(TCC)
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
resistance to dieldrin
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Sogatella furcifera
white-backed planthopper - (species) D
Experimental Evolution
Candidate Gene
Nakao Toshifumi; Naoi Atsuko; Kawahara Nobuyuki ; et al. (2010
)
Mutation of the GABA receptor associated with fipronil resistance in the whitebacked planthopper, So[...]
1 Additional References
GP00002563
Rdl
P25123
Physiology
2 mutations
Sogatella furcifera
white-backed planthopper - (species)
Sogatella furcifera
white-backed planthopper - (species) D
resistance to dieldrin
Sogatella furcifera
white-backed planthopper - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Oulema oryzae
rice leaf beetle - (species) D
Experimental Evolution
Candidate Gene
Nakao Toshifumi; Naoi Atsuko; Kawahara Nobuyuki ; et al. (2010
)
Mutation of the GABA receptor associated with fipronil resistance in the whitebacked planthopper, So[...]
1 Additional References
GP00002564
Rdl
P25123
Physiology
A301S
Oulema oryzae
rice leaf beetle - (species)
Oulema oryzae
rice leaf beetle - (species) D
resistance to dieldrin
Oulema oryzae
rice leaf beetle - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Diabrotica virgifera
(species) D
Intraspecific
Candidate Gene
Wang H; Coates BS; Chen H ; et al. (2013)
Role of a γ-aminobutryic acid (GABA) receptor mutation in the evolution and spread of Diabrotica vir[...]
1 Additional References
GP00002566
Rdl
P25123
Physiology
A301S
Diabrotica virgifera
(species)
Diabrotica virgifera
(species) D
resistance to dieldrin
Diabrotica virgifera
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
Hope M; Menzies M; Kemp D (2010)
Identification of a dieldrin resistance-associated mutation in Rhipicephalus (Boophilus) microplus ([...]
1 Additional References
GP00002567
Rdl
P25123
Physiology
T305L
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
resistance to dieldrin
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
retr02/eIF(iso)4E
Pathogen resistance (plant virus)
Coding,
SNP
Brassica rapa
field mustard - (species) D
Domesticated
Linkage Mapping
Qian W; Zhang S; Zhang S ; et al. (2013)
Mapping and candidate-gene screening of the novel Turnip mosaic virus resistance gene retr02 in Chin[...]
GP00000983
EIF(ISO)4E
O04663
Physiology
G152R
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species) D
retr02/eIF(iso)4E
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
RGC2/Dm3
Pathogen resistance
Coding,
Unknown
Lactuca serriola
(species)
Domesticated
Linkage Mapping
Kuang H; Ochoa OE; Nevo E ; et al. (2006)
The disease resistance gene Dm3 is infrequent in natural populations of Lactuca serriola due to dele[...]
GP00000984
RGC2
Q6Y136
Physiology
Various haplotypes detected using PCR - absence of amplification could be due to deletion or to gene conversion
Lactuca serriola
(species)
Lactuca serriola
(species)
RGC2/Dm3
Lactuca serriola
(species)
Published - Accepted by Curator
Rgh4
Pathogen resistance (cyst nematode; parasite)
2 Mutations:
Coding
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Liu S; Kandoth PK; Warren SD ; et al. (2012)
A soybean cyst nematode resistance gene points to a new mechanism of plant resistance to pathogens.
GP00001049
SHMT
K4FZF8
Physiology
2 mutations
Glycine max
soybean - (species)
Glycine max
soybean - (species)
Rgh4
Glycine max
soybean - (species)
Published - Accepted by Curator
Rhg1
Pathogen resistance (cyst nematode)
Gene Amplification,
Complex Change
Glycine max
soybean - (species)
Intraspecific
Linkage Mapping
Cook DE; Lee TG; Guo X ; et al. (2012)
Copy number variation of multiple genes at Rhg1 mediates nematode resistance in soybean.
GP00000985
rhg1s
Q8L3Y5
Physiology
Copy number Variant : 10-tandem copies of the gene cluster in resistant strains ; the 3 dissimilar genes participate to resistance
Glycine max
soybean - (species)
Glycine max
soybean - (species)
Rhg1
Glycine max
soybean - (species)
Published - Accepted by Curator
Rhg1
Pathogen resistance (cyst nematode)
Cis-regulatory,
Insertion
Glycine max
soybean - (species) D
Intraspecific
Linkage Mapping
Bayless AM; Zapotocny RW; Han S ; et al. (2019)
The rhg1-a (Rhg1 low-copy) nematode resistance source harbors a copia-family retrotransposon within [...]
GP00002049
rhg1s
Q8L3Y5
Physiology
insertion of a copia retrotransposon within the gene Rhg1 Glyma.18G022500 (α-SNAP-encoding). This transposable element is intact and resides within intron 1; anti-sense to the rhg1-a α-SNAP open reading frame.
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
Rhg1
Glycine max
soybean - (species)
Published - Accepted by Curator
Rhodopsin (RH1)
Color vision (blue shift)
Coding,
SNP
Thunnus orientalis
Pacific bluefin tuna - (species) D
Intergeneric or Higher
Candidate Gene
Nakamura Y; Mori K; Saitoh K ; et al. (2013)
Evolutionary changes of multiple visual pigment genes in the complete genome of Pacific bluefin tuna[...]
GP00001468
rho
P35359
Physiology
p.E122Q (G>C)
Percomorphaceae
(no rank)
Thunnus orientalis
Pacific bluefin tuna - (species) D
Rhodopsin (RH1)
Thunnus orientalis
Pacific bluefin tuna - (species)
Published - Accepted by Curator
ribonuclease 1B (RNase1B)
Optimal enzymatic pH
3 Mutations:
Coding
SNP
Pygathrix nemaeus
Red shanked douc langur - (species) D
Intergeneric or Higher
Candidate Gene
Zhang J (2006)
Parallel adaptive origins of digestive RNases in Asian and African leaf monkeys.
GP00000987
RNASE1B
Q8SPN3
Physiology
3 mutations
Primates
(order)
Pygathrix nemaeus
Red shanked douc langur - (species) D
ribonuclease 1B (RNase1B)
Pygathrix nemaeus
Red shanked douc langur - (species)
Published - Accepted by Curator
ribonuclease 1B (RNase1B)
Optimal enzymatic pH
3 Mutations:
Coding
SNP
Colobus guereza
mantled guereza - (species)
Intergeneric or Higher
Candidate Gene
Zhang J (2006)
Parallel adaptive origins of digestive RNases in Asian and African leaf monkeys.
GP00000988
RNASE1B
Q8SPN3
Physiology
3 mutations
Primates
(order)
Colobus guereza
mantled guereza - (species)
ribonuclease 1B (RNase1B)
Colobus guereza
mantled guereza - (species)
Published - Accepted by Curator
ripening inhibitor (rin) = LeMADS-RIN and LeMADS-MC
Fruit ripening
Gene Loss,
Deletion
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Vrebalov J; Ruezinsky D; Padmanabhan V ; et al. (2002)
A MADS-box gene necessary for fruit ripening at the tomato ripening-inhibitor (rin) locus.
1 Additional References
GP00000990
MADS-RIN
Q8S4L4
Physiology
2.6kb deletion of the region located between gene LeMADS-RIN and gene LeMADS-MC; resulting in a chimeric mRNA that contains both LeMADS-RIN and LeMADS-MC coding regions.
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
ripening inhibitor (rin) = LeMADS-RIN and LeMADS-MC
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
RME1
Sporulation efficiency
Cis-regulatory,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Deutschbauer AM; Davis RW (2005)
Quantitative trait loci mapped to single-nucleotide resolution in yeast.
GP00000994
RME1
P32338
Physiology
single nucleotide deletion in promoter region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RME1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RME1 [possible pseudo-replicate of laboratory strain entry]
Sporulation efficiency
Cis-regulatory,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00000995
RME1
P32338
Physiology
single nucleotide deletion in promoter region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RME1 [possible pseudo-replicate of laboratory strain entry]
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RNASE1B
Folivory (digestion of bacteria at low pH)
Coding,
SNP
Colobus guereza
mantled guereza - (species) D
Piliocolobus badius
western red colobus - (species) D
Intergeneric or Higher
Candidate Gene
Zhou X; Wang B; Pan Q ; et al. (2014)
Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary hi[...]
GP00001412
RNASE1B
Q8SPN3
Physiology
p.Arg39Trp
Macaca mulatta
Rhesus monkey - (species)
Colobus guereza
mantled guereza - (species) D
Piliocolobus badius
western red colobus - (species) D
RNASE1B
Colobus guereza
mantled guereza - (species)
Piliocolobus badius
western red colobus - (species)
Published - Accepted by Curator
RNASE1B
Folivory (digestion of bacteria at low pH)
Coding,
SNP
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Nasalis larvatus
proboscis monkey - (species) D
Pygathrix nemaeus
Red shanked douc langur - (species) D
Intergeneric or Higher
Candidate Gene
Zhou X; Wang B; Pan Q ; et al. (2014)
Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary hi[...]
GP00001413
RNASE1B
Q8SPN3
Physiology
p.Arg39Trp
Colobinae
(subfamily)
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Nasalis larvatus
proboscis monkey - (species) D
Pygathrix nemaeus
Red shanked douc langur - (species) D
RNASE1B
Rhinopithecus roxellana
golden snub-nosed monkey - (species)
Nasalis larvatus
proboscis monkey - (species)
Pygathrix nemaeus
Red shanked douc langur - (species)
Published - Accepted by Curator
RNASE1B
Folivory (digestion of bacteria at low pH)
Coding,
SNP
Presbytis melalophos
mitred leaf monkey - (species) D
Interspecific
Candidate Gene
Zhou X; Wang B; Pan Q ; et al. (2014)
Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary hi[...]
GP00001414
RNASE1B
Q8SPN3
Physiology
p.Arg39Gln
Colobinae
(subfamily)
Presbytis melalophos
mitred leaf monkey - (species) D
RNASE1B
Presbytis melalophos
mitred leaf monkey - (species)
Published - Accepted by Curator
RNASE4
High-altitude adaptation (enhanced angiogenesis)
2 Mutations:
Coding
SNP
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001505
RNASE4
P34096
Physiology
2 mutations
Rhinopithecus avunculus
Tonkin snub-nosed monkey - (species)
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
RNASE4
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species)
Rhinopithecus bieti
black snub-nosed monkey - (species)
Published - Accepted by Curator
RNASE4 [likely pseudo-replicate of other RNASE4 entry by introgression]
High-altitude adaptation (enhanced angiogenesis)
2 Mutations:
Coding
SNP
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001506
RNASE4
P34096
Physiology
2 mutations
Rhinopithecus brelichi
Gray snub-nosed monkey - (species)
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
RNASE4 [likely pseudo-replicate of other RNASE4 entry by introgression]
Rhinopithecus roxellana
golden snub-nosed monkey - (species)
Published - Accepted by Curator
RNF11
Body size (dwarfism)
Cis-regulatory,
Deletion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Sartelet A; Druet T; Michaux C ; et al. (2012)
A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory[...]
GP00002275
RNF11
Q9Y3C5
Morphology
g.95601696A>G c.124-2A>G affecting splicing site
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
RNF11
Bos taurus
cattle - (species)
Published - Accepted by Curator
RNF212
Recombination rate (male)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001639
RNF212
Q495C1
Physiology
T>C p.P259S in exon 12 with reduction in Genome-wide recombination rate
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
RNF212
Bos taurus
cattle - (species)
Published - Accepted by Curator
Root System Architecture 1
Root growth (allometry of lateral roots)
Cis-regulatory,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Rosas U; Cibrian-Jaramillo A; Ristova D ; et al. (2013)
Integration of responses within and across Arabidopsis natural accessions uncovers loci controlling [...]
GP00001285
Root System Architecture 1
F4JL94
Morphology
348bp upstream of the 5'UTR
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Root System Architecture 1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Rp1-D
Pathogen resistance
Gene Amplification,
Complex Change
Zea mays
(species)
Domesticated
Candidate Gene
Collins N; Drake J; Ayliffe M ; et al. (1999)
Molecular characterization of the maize Rp1-D rust resistance haplotype and its mutants.
2 Additional References
GP00000998
Rp1-D
Q9SWU0
Physiology
Unequal crossing over between paralogues resulting in chimeric gene
Zea mays
(species)
Zea mays
(species)
Rp1-D
Zea mays
(species)
Published - Accepted by Curator
RPP1
Hybrid incompatibility
Unknown,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Alcázar R; von Reth M; Bautor J ; et al. (2014)
Analysis of a plant complex resistance gene locus underlying immune-related hybrid incompatibility a[...]
1 Additional References
GP00001281
RPP1
F4J339
Physiology
complex
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP1
Hybrid incompatibility
Unknown,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Alcázar R; von Reth M; Bautor J ; et al. (2014)
Analysis of a plant complex resistance gene locus underlying immune-related hybrid incompatibility a[...]
1 Additional References
GP00001282
RPP1
F4J339
Physiology
complex
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP5
Pathogen resistance
Gene Amplification,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Parker JE; Coleman MJ; Szabò V ; et al. (1997)
The Arabidopsis downy mildew resistance gene RPP5 shares similarity to the toll and interleukin-1 re[...]
1 Additional References
GP00001009
RPP5
F4JNB7
Physiology
Partial duplication sufficient to increase resistance
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP5
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RPP8
Pathogen resistance
Coding,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
McDowell JM; Dhandaydham M; Long TA ; et al. (1998)
Intragenic recombination and diversifying selection contribute to the evolution of downy mildew resi[...]
1 Additional References
GP00001010
RPP8
Q8W4J9
Physiology
Chimeric fusion of two paralogues followed by coding divergence
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPP8
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RREB1
Body fat distribution (visceral)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001555
RREB1
Q92766
Physiology
C>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
RREB1
Homo sapiens
human - (species)
Published - Accepted by Curator
RSF1
Sporulation efficiency
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00001016
HFR1
Q9FE22
Physiology
D181G
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
RSF1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RTA1
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001312
RTA1
P53047
Physiology
unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
RTA1
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
Ruby
Coloration (fruit; cold-dependent)
Cis-regulatory,
Insertion
Citrus sinensis
sweet orange - (species) D
Domesticated
Candidate Gene
Butelli E; Licciardello C; Zhang Y ; et al. (2012)
Retrotransposons control fruit-specific, cold-dependent accumulation of anthocyanins in blood orange[...]
GP00001017
Ruby
H6U1F1
Morphology
TE (Tcs2) insertion triggering cold-dependent expression
Citrus
(genus)
Citrus sinensis
sweet orange - (species) D
Ruby
Citrus sinensis
sweet orange - (species)
Published - Accepted by Curator
Ruby
Coloration (fruit; cold-dependent)
Cis-regulatory,
Insertion
Citrus sinensis
sweet orange - (species) D
Domesticated
Candidate Gene
Butelli E; Licciardello C; Zhang Y ; et al. (2012)
Retrotransposons control fruit-specific, cold-dependent accumulation of anthocyanins in blood orange[...]
GP00001018
Ruby
H6U1F1
Morphology
TE (Tcs1) insertion triggering cold-dependent expression
Citrus
(genus)
Citrus sinensis
sweet orange - (species) D
Ruby
Citrus sinensis
sweet orange - (species)
Published - Accepted by Curator
Ruby
Coloration (fruit; cold-dependent)
Cis-regulatory,
Deletion
Citrus sinensis
sweet orange - (species) D
Domesticated
Candidate Gene
Butelli E; Licciardello C; Zhang Y ; et al. (2012)
Retrotransposons control fruit-specific, cold-dependent accumulation of anthocyanins in blood orange[...]
GP00002106
Ruby
H6U1F1
Morphology
Recombination between the LTRs of the TE (Tcs1) insertion which led to just one LTR. The single LTR still confers responsiveness to cold temperatures. This recombination event results in enhanced expression of Ruby in Maro (I).
Citrus
(genus)
Citrus sinensis
sweet orange - (species) D
Ruby
Citrus sinensis
sweet orange - (species)
Published - Accepted by Curator
Rx1
Color vision (expression of SWS2b opsin)
Cis-regulatory,
Indel
Tramitichromis intermedius
(species)
Interspecific
Linkage Mapping
Schulte JE; O'Brien CS; Conte MA ; et al. (2014)
Interspecific variation in Rx1 expression controls opsin expression and causes visual system diversi[...]
GP00001441
rx1
O42356
Physiology
413bp deletion located 2.5-kb upstream of the Rx1 translation start site correlating with decreased Rx1 expression
Aulonocara baenschi
Nkhomo-benga peacock cichlid - (species)
Tramitichromis intermedius
(species)
Rx1
Tramitichromis intermedius
(species)
Published - Accepted by Curator
RXFP2
Horns absence
Somatic sex change
Gene Amplification,
Insertion
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Johnston SE; Gratten J; Berenos C ; et al. (2013)
Life history trade-offs at a single locus maintain sexually selected genetic variation.
1 Additional References
GP00001019
RXFP2
Q8WXD0
Morphology
Physiology
1833-bp genomic insertion located in the 3'-UTR region of RXFP2
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
RXFP2
Ovis aries
sheep - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Troczka B; Zimmer CT; Elias J ; et al. (2012)
Resistance to diamide insecticides in diamondback moth, Plutella xylostella (Lepidoptera: Plutellida[...]
2 Additional References
GP00002433
RyR
Q24498
Physiology
G4946E
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
RYR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Troczka B; Zimmer CT; Elias J ; et al. (2012)
Resistance to diamide insecticides in diamondback moth, Plutella xylostella (Lepidoptera: Plutellida[...]
1 Additional References
GP00002434
RyR
Q24498
Physiology
G4946E due to GGG>GAA
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
RYR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Roditakis E; Steinbach D; Moritz G ; et al. (2017)
Ryanodine receptor point mutations confer diamide insecticide resistance in tomato leafminer, Tuta a[...]
1 Additional References
GP00002435
RyR
Q24498
Physiology
G4903 corresponds to the G4946E mutation site shown to confer diamide resistance in diamondback moth
Tuta absoluta
(species)
Tuta absoluta
(species) D
RYR
Tuta absoluta
(species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Roditakis E; Steinbach D; Moritz G ; et al. (2017)
Ryanodine receptor point mutations confer diamide insecticide resistance in tomato leafminer, Tuta a[...]
1 Additional References
GP00002436
RyR
Q24498
Physiology
G4903 corresponds to the G4946E mutation site shown to confer diamide resistance in diamondback moth
Tuta absoluta
(species)
Tuta absoluta
(species) D
RYR
Tuta absoluta
(species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Douris V; Papapostolou KM; Ilias A ; et al. (2017)
Investigation of the contribution of RyR target-site mutations in diamide resistance by CRISPR/Cas9 [...]
1 Additional References
GP00002438
RyR
Q24498
Physiology
G4903V corresponds to the G4946E mutation site shown to confer diamide resistance in diamondback moth
Tuta absoluta
(species)
Tuta absoluta
(species) D
RYR
Tuta absoluta
(species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Douris V; Papapostolou KM; Ilias A ; et al. (2017)
Investigation of the contribution of RyR target-site mutations in diamide resistance by CRISPR/Cas9 [...]
1 Additional References
GP00002439
RyR
Q24498
Physiology
I4790M
Tuta absoluta
(species)
Tuta absoluta
(species) D
RYR
Tuta absoluta
(species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Guo L; Liang P; Zhou X ; et al. (2014)
Novel mutations and mutation combinations of ryanodine receptor in a chlorantraniliprole resistant p[...]
GP00002605
RyR
Q24498
Physiology
E1338D Q4594L I4790M)in highly conserved regions of RyR.
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
RYR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Chilo suppressalis
striped riceborer - (species) D
Intraspecific
Candidate Gene
Yao R; Zhao DD; Zhang S ; et al. (2017)
Monitoring and mechanisms of insecticide resistance in Chilo suppressalis (Lepidoptera: Crambidae), [...]
1 Additional References
GP00002626
RyR
Q24498
Physiology
G4946E
Chilo suppressalis
striped riceborer - (species)
Chilo suppressalis
striped riceborer - (species) D
RYR
Chilo suppressalis
striped riceborer - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide ; chlorantraniliprole ; flubendiamide)
Coding,
SNP
Chilo suppressalis
striped riceborer - (species) D
Intraspecific
Candidate Gene
Wei Y; Yan R; Zhou Q ; et al. (2019)
Monitoring and Mechanisms of Chlorantraniliprole Resistance in Chilo suppressalis (Lepidoptera: Cram[...]
GP00002627
RyR
Q24498
Physiology
I4758M
Chilo suppressalis
striped riceborer - (species)
Chilo suppressalis
striped riceborer - (species) D
RYR
Chilo suppressalis
striped riceborer - (species)
Published - Accepted by Curator
RYR
Xenobiotic resistance (insecticide ; diamide)
Coding,
SNP
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Candidate Gene
Zuo YY; Ma HH; Lu WJ ; et al. (2020)
Identification of the ryanodine receptor mutation I4743M and its contribution to diamide insecticide[...]
2 Additional References
GP00002633
RyR
Q24498
Physiology
I4743M - corresponds to I4790M in PxRyR
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
RYR
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
RYR1
Meat content
Coding,
SNP
Sus scrofa
pig - (species) D
Domesticated
Linkage Mapping
Fujii J; Otsu K; Zorzato F ; et al. (1991)
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.
GP00002338
Ryr1
E9PZQ0
Physiology
p.R615C
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
RYR1
Sus scrofa
pig - (species)
Published - Accepted by Curator
S locus supergene (GLO/CFB Cluster)
Flower morphology (heterostyly)
Other,
Complex Change
Primula vulgaris
(species)
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001392
Morphology
Absence/presence of a supergene constituted by a cluster of 6 genes
Primula vulgaris
(species)
Primula vulgaris
(species)
S locus supergene (GLO/CFB Cluster)
Primula vulgaris
(species)
Published - Accepted by Curator
S5
Hybrid incompatibility (F1 female sterility)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Chen J; Ding J; Ouyang Y ; et al. (2008)
A triallelic system of S5 is a major regulator of the reproductive barrier and compatibility of indi[...]
GP00001020
GRXS5
Q5QLR2
Physiology
2 non-synonymous changes Leu273Phe and Val471Ala segregate perfectly between japonica (Leu-Val) and japonica (Phe-Ala) - the effect of each amino acid chaeg has not been tested
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
S5
Oryza sativa
rice - (species)
Published - Accepted by Curator
S5 (ORF3-ORF4-ORF5 gene complex)
Hybrid incompatibility (sterility)
Coding,
Complex Change
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Yang J; Zhao X; Cheng K ; et al. (2012)
A killer-protector system regulates both hybrid sterility and segregation distortion in rice.
GP00001021
GRXS5
Q5QLR2
Physiology
System of alleles at three linked genes resulting in killer-protector system (hybrid incompabilitites)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
S5 (ORF3-ORF4-ORF5 gene complex)
Oryza sativa
rice - (species)
Published - Accepted by Curator
sage
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xia Q; Guo Y; Zhang Z ; et al. (2009)
Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).
GP00002410
sage
Q9VHG3
Physiology
Increased expression in high yield strains. The sage gene encodes a transcription factor that activates glue genes in salivary glands of Drosophila melanogaster.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
sage
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
SAP (Sterile Apetala)
Petal size
Cis-regulatory,
SNP
Capsella rubella
(species) D
Interspecific
Linkage Mapping
Sicard A; Kappel C; Lee YW ; et al. (2016)
Standing genetic variation in a tissue-specific enhancer underlies selfing-syndrome evolution in Cap[...]
GP00001371
SAP
Q9FKH1
Morphology
5 SNP in intron in particular
Capsella grandiflora
(species)
Capsella rubella
(species) D
SAP (Sterile Apetala)
Capsella rubella
(species)
Published - Accepted by Curator
SAP-2
Xenobiotic resistance (insecticide; pyrethroid)
Cis-regulatory,
Unknown
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Ingham VA; Anthousi A; Douris V ; et al. (2020)
A sensory appendage protein protects malaria vectors from pyrethroids.
GP00002432
SAP-2
Q6H8Z3
Physiology
The gene is highly overexpressed in the appendages of pyrethroid-resistant mosquitoes and its expression is further induced by insecticide exposure. Silencing of SAP2 almost completely restored susceptibility to the pyrethroid deltamethrin and also significantly increased the susceptibility to the other two pyrethroids (permethrin and alpha-cypermethrin).
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
SAP-2
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
SBNO1
Head size
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Taal HR; Pourcain BS; Thiering E ; et al. (2012)
Common variants at 12q15 and 12q24 are associated with infant head circumference.
GP00001023
SBNO1
A3KN83
Morphology
Ser729Asn
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SBNO1
Homo sapiens
human - (species)
Published - Accepted by Curator
SCARB1
Coloration (silk; carotenoids)
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Sakudoh T; Iizuka T; Narukawa J ; et al. (2010)
A CD36-related transmembrane protein is coordinated with an intracellular lipid-binding protein in s[...]
GP00001905
Cameo2
D2KXB3
Morphology
difference in expression levels - three non synonymous mutations are also observed in the coding region - the gene is also named Cameo2
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
SCARB1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
scd-2
Diapause
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Reiner DJ; Ailion M; Thomas JH ; et al. (2008)
C. elegans anaplastic lymphoma kinase ortholog SCD-2 controls dauer formation by modulating TGF-beta[...]
GP00001026
scd-2
O76411
Physiology
Gly985Arg
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
scd-2
Caenorhabditis elegans
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Mya arenaria
(species) D
Intraspecific
Candidate Gene
Bricelj VM; Connell L; Konoki K ; et al. (2005)
Sodium channel mutation leading to saxitoxin resistance in clams increases risk of PSP.
GP00000721
SCN4A
P35499
Physiology
E945D
Mya arenaria
(species)
Mya arenaria
(species) D
SCN4A (Nav1.4)
Mya arenaria
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Erythrolamprus epinephelus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000724
SCN4A
P35499
Physiology
G1569D in DIV domain and D1568S in DIV domain with D1568S supposed to increase the resistance - exact causing mutation(s) unknown
Erythrolamprus poecilogyrus
(species)
Erythrolamprus epinephelus
(species) D
SCN4A (Nav1.4)
Erythrolamprus epinephelus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Rhabdophis tigrinus
Tiger keelback - (species) D
Interspecific
Candidate Gene
Feldman CR; Brodie ED; Brodie ED ; et al. (2012)
Constraint shapes convergence in tetrodotoxin-resistant sodium channels of snakes.
1 Additional References
GP00000725
SCN4A
P35499
Physiology
I1555M
Thamnophis elegans
Western terrestrial garter snake - (species)
Rhabdophis tigrinus
Tiger keelback - (species) D
SCN4A (Nav1.4)
Rhabdophis tigrinus
Tiger keelback - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis atratus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000726
SCN4A
P35499
Physiology
D1277E in DIII domain
Thamnophis couchii
(species)
Thamnophis atratus
(species) D
SCN4A (Nav1.4)
Thamnophis atratus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis atratus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000727
SCN4A
P35499
Physiology
D1568N in DIV domain
Thamnophis couchii
(species)
Thamnophis atratus
(species) D
SCN4A (Nav1.4)
Thamnophis atratus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis couchii
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000728
SCN4A
P35499
Physiology
M1276T in DIII domain
Thamnophis atratus
(species)
Thamnophis couchii
(species) D
SCN4A (Nav1.4)
Thamnophis couchii
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Hebius pryeri
Pryer's keelback - (species) D
Interspecific
Candidate Gene
Feldman CR; Brodie ED; Brodie ED ; et al. (2012)
Constraint shapes convergence in tetrodotoxin-resistant sodium channels of snakes.
1 Additional References
GP00000729
SCN4A
P35499
Physiology
D1227E = D945E in DIII domain
Hebius vibakari
Japanese keelback - (species)
Hebius pryeri
Pryer's keelback - (species) D
SCN4A (Nav1.4)
Hebius pryeri
Pryer's keelback - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000730
SCN4A
P35499
Physiology
G1566A in DIV domain
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000731
SCN4A
P35499
Physiology
I1561V in DIV domain
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000732
SCN4A
P35499
Physiology
I1556L and/or D1568N and/or G1569V
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Mantella aurantiaca
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001573
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Mantella aurantiaca
(species) D
SCN4A (Nav1.4)
Mantella aurantiaca
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates terribilis
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001574
SCN4A
P35499
Physiology
T>G p.S429A in DI-S6 domain
Anura
frogs and toads - (order)
Phyllobates terribilis
(species) D
SCN4A (Nav1.4)
Phyllobates terribilis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates terribilis
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001575
SCN4A
P35499
Physiology
A>G p.I433V in DI-S6 domain
Anura
frogs and toads - (order)
Phyllobates terribilis
(species) D
SCN4A (Nav1.4)
Phyllobates terribilis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Dendrobates tinctorius
dyeing poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001576
SCN4A
P35499
Physiology
A>G p.I433V in DI-S6 domain
Anura
frogs and toads - (order)
Dendrobates tinctorius
dyeing poison frog - (species) D
SCN4A (Nav1.4)
Dendrobates tinctorius
dyeing poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Excidobates captivus
Rio Santiago poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001577
SCN4A
P35499
Physiology
A>G p.I433V in DI-S6 domain
Anura
frogs and toads - (order)
Excidobates captivus
Rio Santiago poison frog - (species) D
SCN4A (Nav1.4)
Excidobates captivus
Rio Santiago poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates terribilis
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001578
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Phyllobates terribilis
(species) D
SCN4A (Nav1.4)
Phyllobates terribilis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Dendrobates tinctorius
dyeing poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001579
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Dendrobates tinctorius
dyeing poison frog - (species) D
SCN4A (Nav1.4)
Dendrobates tinctorius
dyeing poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Excidobates captivus
Rio Santiago poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001580
SCN4A
P35499
Physiology
CC>AA p.A446E in DI-S6 domain
Anura
frogs and toads - (order)
Excidobates captivus
Rio Santiago poison frog - (species) D
SCN4A (Nav1.4)
Excidobates captivus
Rio Santiago poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Ameerega parvula
ruby poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001581
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Ameerega parvula
ruby poison frog - (species) D
SCN4A (Nav1.4)
Ameerega parvula
ruby poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Epipedobates
phantasmal poison frogs - (genus) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001582
SCN4A
P35499
Physiology
C>A p.A446D in DI-S6 domain
Anura
frogs and toads - (order)
Epipedobates
phantasmal poison frogs - (genus) D
SCN4A (Nav1.4)
Epipedobates
phantasmal poison frogs - (genus)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates
(genus) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001583
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Phyllobates
(genus) D
SCN4A (Nav1.4)
Phyllobates
(genus)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Dendrobates tinctorius
dyeing poison frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001584
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Dendrobates tinctorius
dyeing poison frog - (species) D
SCN4A (Nav1.4)
Dendrobates tinctorius
dyeing poison frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Hyloxalus italoi
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001585
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Hyloxalus italoi
(species) D
SCN4A (Nav1.4)
Hyloxalus italoi
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Ameerega
(genus) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001586
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Ameerega
(genus) D
SCN4A (Nav1.4)
Ameerega
(genus)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Silverstoneia flotator
rainforest rocket frog - (species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001587
SCN4A
P35499
Physiology
G>A p.V1583I in DIV-S6 domain
Anura
frogs and toads - (order)
Silverstoneia flotator
rainforest rocket frog - (species) D
SCN4A (Nav1.4)
Silverstoneia flotator
rainforest rocket frog - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (poison frog alkaloids)
Coding,
SNP
Phyllobates terribilis
(species) D
Intergeneric or Higher
Candidate Gene
Tarvin RD; Santos JC; O'Connell LA ; et al. (2016)
Convergent Substitutions in a Sodium Channel Suggest Multiple Origins of Toxin Resistance in Poison [...]
GP00001588
SCN4A
P35499
Physiology
C>A p.N1584T in DIV-S6 domain
Anura
frogs and toads - (order)
Phyllobates terribilis
(species) D
SCN4A (Nav1.4)
Phyllobates terribilis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4a gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Takifugu rubripes
torafugu - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
GP00000722
SCN4A
P35499
Physiology
Y401N
Teleostei
teleost fishes - (infraclass)
Takifugu rubripes
torafugu - (species)
SCN4A (Nav1.4a gene copy)
Takifugu rubripes
torafugu - (species)
Published - Accepted by Curator
SCN4A (Nav1.4a gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Tetraodon nigroviridis
spotted green pufferfish - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
GP00000723
SCN4A
P35499
Physiology
Y401C
Teleostei
teleost fishes - (infraclass)
Tetraodon nigroviridis
spotted green pufferfish - (species)
SCN4A (Nav1.4a gene copy)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
SCN4A (Nav1.4b gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Tetraodon nigroviridis
spotted green pufferfish - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
1 Additional References
GP00000733
SCN4A
P35499
Physiology
E945D
Teleostei
teleost fishes - (infraclass)
Tetraodon nigroviridis
spotted green pufferfish - (species)
SCN4A (Nav1.4b gene copy)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
SCN4A (Nav1.4b gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Takifugu rubripes
torafugu - (species)
Interspecific
Candidate Gene
Jost MC; Hillis DM; Lu Y ; et al. (2008)
Toxin-resistant sodium channels: parallel adaptive evolution across a complete gene family.
GP00000734
SCN4A
P35499
Physiology
M1240T
Teleostei
teleost fishes - (infraclass)
Takifugu rubripes
torafugu - (species)
SCN4A (Nav1.4b gene copy)
Takifugu rubripes
torafugu - (species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Viperidae
(family) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001652
SCN8A
A0A1B0Z7A5
Physiology
I1709V in DIV (2x resistance)
Protobothrops flavoviridis
(species)
Viperidae
(family) D
SCN8A (Nav1.6)
Viperidae
(family)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Micrurus fulvius
eastern coral snake - (species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001653
SCN8A
A0A1B0Z7H0
Physiology
I1709V in DIV domain (2x resistance)
Naja kaouthia
monocled cobra - (species)
Micrurus fulvius
eastern coral snake - (species) D
SCN8A (Nav1.6)
Micrurus fulvius
eastern coral snake - (species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Elapsoidea nigra
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001654
SCN8A
A0A1B0Z7G3
Physiology
I1709V in DIV domain (2x resistance)
Naja kaouthia
monocled cobra - (species)
Elapsoidea nigra
(species) D
SCN8A (Nav1.6)
Elapsoidea nigra
(species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Erythrolamprus epinephelus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001655
SCN8A
A0A1B0Z7B3
Physiology
G1717M in DIV domain (not tested)
Erythrolamprus poecilogyrus
(species)
Erythrolamprus epinephelus
(species) D
SCN8A (Nav1.6)
Erythrolamprus epinephelus
(species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Lygophis anomalus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001656
SCN8A
A0A1B0Z7F2
Physiology
V1709I (reversion) in DIV domain (loss of resistance)
Helicops angulatus
(species)
Lygophis anomalus
(species) D
SCN8A (Nav1.6)
Lygophis anomalus
(species)
Published - Accepted by Curator
SCN8A (Nav1.6)
Xenobiotic resistance (TTX)
Coding,
SNP
Natricinae
(subfamily) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001657
SCN8A
A0A1B0Z7B0
Physiology
V1709I (reversion) in DIV (loss of resistance)
Hebius pryeri
Pryer's keelback - (species)
Natricinae
(subfamily) D
SCN8A (Nav1.6)
Natricinae
(subfamily)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Anilios bituberculatus
prong-snouted blind snake - (species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001643
SCN9A
Q15858
Physiology
M1392A in DIII domain (not tested)
Anolis carolinensis
green anole - (species)
Anilios bituberculatus
prong-snouted blind snake - (species) D
SCN9A (Nav1.7)
Anilios bituberculatus
prong-snouted blind snake - (species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Henophidia
(superfamily) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001644
SCN9A
Q15858
Physiology
M1392T in DIII (15x resistance)
Anolis carolinensis
green anole - (species)
Henophidia
(superfamily) D
SCN9A (Nav1.7)
Henophidia
(superfamily)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Chrysemys picta
painted turtle - (species) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001645
SCN9A
Q15858
Physiology
D1393P (most probably E>P) in DIII domain (not tested)
Gallus gallus
chicken - (species)
Chrysemys picta
painted turtle - (species) D
SCN9A (Nav1.7)
Chrysemys picta
painted turtle - (species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Carphophis
(genus) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001646
SCN9A
Q15858
Physiology
I1677V in DIV (2x resistance)
Diadophis punctatus
Ringneck snake - (species)
Carphophis
(genus) D
SCN9A (Nav1.7)
Carphophis
(genus)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Chrysemys picta
painted turtle - (species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001647
SCN9A
Q15858
Physiology
A1681G in DIV domain (1.5x resistance)
Gallus gallus
chicken - (species)
Chrysemys picta
painted turtle - (species) D
SCN9A (Nav1.7)
Chrysemys picta
painted turtle - (species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Leptotyphlops
(genus) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001648
SCN9A
Q15858
Physiology
A1681G (1.5x resistance) in DIV
Anilios bituberculatus
prong-snouted blind snake - (species)
Leptotyphlops
(genus) D
SCN9A (Nav1.7)
Leptotyphlops
(genus)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Anolis carolinensis
green anole - (species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001649
SCN9A
Q15858
Physiology
D1684A (most probably N>A) in DIV domain (150x resistance)
Dopasia gracilis
Burmese glass lizard - (species)
Anolis carolinensis
green anole - (species) D
SCN9A (Nav1.7)
Anolis carolinensis
green anole - (species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Epicrates cenchria
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001650
SCN9A
Q15858
Physiology
D1684H (most probably N>H) in DIV domain (not tested)
Boa constrictor
boa - (species)
Epicrates cenchria
(species) D
SCN9A (Nav1.7)
Epicrates cenchria
(species)
Published - Accepted by Curator
SCN9A (Nav1.7)
Xenobiotic resistance (TTX)
Coding,
SNP
Leptotyphlops
(genus) D
Intergeneric or Higher
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00001651
SCN9A
Q15858
Physiology
G1685Y (not tested) in DIV
Anilios bituberculatus
prong-snouted blind snake - (species)
Leptotyphlops
(genus) D
SCN9A (Nav1.7)
Leptotyphlops
(genus)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (height)
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Asano K; Yamasaki M; Takuno S ; et al. (2011)
Artificial selection for a green revolution gene during japonica rice domestication.
GP00001027
GA20OX2
Q0JH50
Morphology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
GP00001029
GA20OX2
Q0JH50
Morphology
G94V
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
GP00001030
GA20OX2
Q0JH50
Morphology
D349H
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
GP00001031
GA20OX2
Q0JH50
Morphology
L266F
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sdic gene cluster
Fertility (sperm competition; sperm competence)
Gene Amplification,
Complex Change
Drosophila melanogaster
fruit fly - (species)
Interspecific
Candidate Gene
Nurminsky DI; Nurminskaya MV; De Aguiar D ; et al. (1998)
Selective sweep of a newly evolved sperm-specific gene in Drosophila.
1 Additional References
GP00001032
Sdic1
Q9W5W4
Physiology
Gene duplication
melanogaster subgroup
(species subgroup)
Drosophila melanogaster
fruit fly - (species)
Sdic gene cluster
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
SELF PRUNING 5G (SP5G)
Flowering time
Cis-regulatory,
Unknown
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Soyk S; Müller NA; Park SJ ; et al. (2017)
Variation in the flowering gene SELF PRUNING 5G promotes day-neutrality and early yield in tomato.
GP00001564
SP5G
Q84XK9
Physiology
several candidate SNPs and structural variants
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species)
SELF PRUNING 5G (SP5G)
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
self-pruning (sp)
Vegetative/Reproductive state switch
Coding,
SNP
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Pnueli L; Carmel-Goren L; Hareven D ; et al. (1998)
The SELF-PRUNING gene of tomato regulates vegetative to reproductive switching of sympodial meristem[...]
GP00001035
SP
O82088
Morphology
P76L due to CCT->CTT
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
self-pruning (sp)
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Shattering1 - OsSh1
Seed shattering
Unknown,
Insertion
Oryza sativa
rice - (species) D
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
2 Additional References
GP00001039
YAB2
Q10FZ7
Physiology
>4kb insertion in intron (unclear)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Shattering1 - OsSh1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Shattering1 - Sh1
Seed shattering
Coding,
Complex Change
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001041
YAB2
Q10FZ7
Physiology
two promoter variants at positions -1194 and -1185
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species)
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Shattering1 - Sh1
Seed shattering
Coding,
SNP
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001042
YAB2
Q10FZ7
Physiology
GT-to-GG splice-site variant
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species)
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Shattering1 - ZmSh1-1
Seed shattering
Coding,
Complex Change
Zea mays
(species)
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001043
YAB2
Q10FZ7
Physiology
complex structural variations
Zea mays
(species)
Zea mays
(species)
Shattering1 - ZmSh1-1
Zea mays
(species)
Published - Accepted by Curator
Shattering1 - ZmSh1-5.1 + ZmSh1-5.2
Seed shattering
Coding,
Unknown
Zea mays
(species)
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001044
YAB2
Q10FZ7
Physiology
various structural variations
Zea mays
(species)
Zea mays
(species)
Shattering1 - ZmSh1-5.1 + ZmSh1-5.2
Zea mays
(species)
Published - Accepted by Curator
shattering4 - sh4
Seed shattering
Cis-regulatory,
Unknown
Oryza glaberrima
African rice - (species) D
Domesticated
Association Mapping
Wang M; Yu Y; Haberer G ; et al. (2014)
The genome sequence of African rice (Oryza glaberrima) and evidence for independent domestication.
GP00001045
sh4
Q1PIH9
Physiology
several candidate mutations: ten SNPs and five small insertion/deletions leading to reduced expression
Oryza barthii
(species)
Oryza glaberrima
African rice - (species) D
shattering4 - sh4
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
shattering4 - sh4
Seed shattering
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Li C; Zhou A; Sang T (2006)
Rice domestication by reducing shattering.
GP00001046
sh4
Q1PIH9
Physiology
Asn -> Lys
Oryza rufipogon
(species)
Oryza sativa
rice - (species)
shattering4 - sh4
Oryza sativa
rice - (species)
Published - Accepted by Curator
SHELL
Fruit shell thickness
Coding,
SNP
Elaeis guineensis
African oil palm - (species)
Domesticated
Linkage Mapping
Singh R; Low ET; Ooi LC ; et al. (2013)
The oil palm SHELL gene controls oil yield and encodes a homologue of SEEDSTICK.
GP00001047
AGL11
Q38836
Morphology
1a.a substitution in DNA binding domain
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species)
SHELL
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
SHELL
Fruit shell thickness
Coding,
SNP
Elaeis guineensis
African oil palm - (species)
Domesticated
Candidate Gene
Singh R; Low ET; Ooi LC ; et al. (2013)
The oil palm SHELL gene controls oil yield and encodes a homologue of SEEDSTICK.
GP00001048
AGL11
Q38836
Morphology
1a.a substitution in DNA binding domain
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species)
SHELL
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
shrunken-2 (Sh2) = endosperm ADP-glucose pyrophosphorylase large subunit
Feather
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Preiss J; Danner S; Summers PS ; et al. (1990)
Molecular Characterization of the Brittle-2 Gene Effect on Maize Endosperm ADPglucose Pyrophosphoryl[...]
1 Additional References
GP00001050
SH2
P55241
Physiology
insertion of the transposable element Dissociation
Zea mays
(species)
Zea mays
(species) D
shrunken-2 (Sh2) = endosperm ADP-glucose pyrophosphorylase large subunit
Zea mays
(species)
Published - Accepted by Curator
SIR2
Longevity
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00001054
SIR2
P06700
Physiology
1 to 5 amino-acid substitutions
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
SIR2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SKC1 =OsHKT1
Salt tolerance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ren ZH; Gao JP; Li LG ; et al. (2005)
A rice quantitative trait locus for salt tolerance encodes a sodium transporter.
GP00001055
HKT8
A2WNZ9
Physiology
several candidate missense mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
SKC1 =OsHKT1
Oryza sativa
rice - (species)
Published - Accepted by Curator
SLC24A5 (NCKX5)
Coloration (eyes; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lamason RL; Mohideen MA; Mest JR ; et al. (2005)
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.
5 Additional References
GP00001056
Slc24a5
Q8C261
Morphology
Ala111Thr
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC24A5 (NCKX5)
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC36A1
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Cook D; Brooks S; Bellone R ; et al. (2008)
Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.
GP00002278
SLC36A1
Q7Z2H8
Morphology
c.188C>G p.T63R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC36A1
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Mariat D; Taourit S; Guérin G (2003 Jan-Feb)
A mutation in the MATP gene causes the cream coat colour in the horse.
GP00001057
SLC45A2
Q9UMX9
Morphology
c.457G>A p.(Asp153Asn)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001058
SLC45A2
Q9UMX9
Morphology
G->T transversion at the splice acceptor site just preceding exon 4; causes in-frame skipping of exon 4
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
SLC45A2=MATP
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; fur)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Linkage Mapping
Du J; Fisher DE (2002)
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF.
GP00001060
SLC45A2
Q9UMX9
Morphology
N153D
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
SLC45A2=MATP
Mus musculus
house mouse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Graf J; Hodgson R; van Daal A (2005)
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation varia[...]
3 Additional References
GP00001061
SLC45A2
Q9UMX9
Morphology
Phe374Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC45A2=MATP
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001062
SLC45A2
Q9UMX9
Morphology
His341Arg
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SLC45A2=MATP
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Panthera tigris
tiger - (species) D
Intraspecific
Association Mapping
Xu X; Dong GX; Hu XS ; et al. (2013)
The genetic basis of white tigers.
GP00001063
SLC45A2
Q9UMX9
Morphology
A477V
Panthera tigris
tiger - (species)
Panthera tigris
tiger - (species) D
SLC45A2=MATP
Panthera tigris
tiger - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Rothammer S; Kunz E; Seichter D ; et al. (2017)
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocuta[...]
GP00002036
SLC45A2
Q9UMX9
Morphology
exact causing mutation(s) unknown - two possible amino acid changes
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
SLC45A2=MATP
Bos taurus
cattle - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (albinism)
Coding,
Insertion
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Linkage Mapping
Fukamachi S; Shimada A; Shima A (2001)
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka.
GP00002286
SLC45A2
Q9UMX9
Morphology
tandem insertion of 195 nt identical to the adjacent ORF sequence. This tandem repeat produces an insertion of 65 amino acids
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
SLC45A2=MATP
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (albinism)
Cis-regulatory,
Complex Change
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Candidate Gene
Fukamachi S; Kinoshita M; Tsujimura T ; et al. (2008)
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter.
GP00002287
SLC45A2
Q9UMX9
Morphology
Promoter complex change resulting in loss of expression : an inversion of 167 bp ; an insertion of 48 bp ; and a deletion of 172 bp
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
SLC45A2=MATP
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Sevane N; Sanz CR; Dunner S (2019)
Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution [...]
GP00002304
SLC45A2
Q9UMX9
Morphology
c.985G>A p.(Ala329Thr)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Holl HM; Pflug KM; Yates KM ; et al. (2019)
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and s[...]
GP00002305
SLC45A2
Q9UMX9
Morphology
c.568G>A p.(Gly190Arg)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Holl HM; Pflug KM; Yates KM ; et al. (2019)
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and s[...]
GP00002306
SLC45A2
Q9UMX9
Morphology
c.305G>A p.(Arg102Gln)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002307
SLC45A2
Q9UMX9
Morphology
c.287C>A p.A72D
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
SLC45A2=MATP
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
SLCO1B3
Coloration (blue eggs)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Wang Z; Qu L; Yao J ; et al. (2013)
An EAV-HP insertion in 5' Flanking region of SLCO1B3 causes blue eggshell in the chicken.
GP00001064
SLCO1B3
Q9NPD5
Morphology
TE (EAV-HP) promoter insertion resulting in uterus expression
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLCO1B3
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLCO1B3
Coloration (blue eggs)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Wang Z; Qu L; Yao J ; et al. (2013)
An EAV-HP insertion in 5' Flanking region of SLCO1B3 causes blue eggshell in the chicken.
GP00001065
SLCO1B3
Q9NPD5
Morphology
TE (EAV-HP) promoter insertion resulting in uterus expression
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLCO1B3
Gallus gallus
chicken - (species)
Published - Accepted by Curator
slowpoke (slo)
Courtship song (sine song frequency)
Cis-regulatory,
Insertion
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Ding Y; Berrocal A; Morita T ; et al. (2016)
Natural courtship song variation caused by an intronic retroelement in an ion channel gene.
GP00001066
slo
Q03720
Behavior
6.7kb "Shelder" retroelement insertion in slowpoke intron; with effect on splicing
Drosophila simulans
(species)
Drosophila simulans
(species) D
slowpoke (slo)
Drosophila simulans
(species)
Published - Accepted by Curator
SLY41
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001712
SLY41
P22215
Physiology
Trp253Leu (G>T at position 893332 according to Table 1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
SLY41
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SMAD family member 2 (SMAD2)
Body size (weight)
Cis-regulatory,
Deletion
Homo sapiens
human - (species) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001477
SMAD2
E2RP23
Morphology
9.9 kb deletion 24-kb dowstream from coding region
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
SMAD family member 2 (SMAD2)
Homo sapiens
human - (species)
Published - Accepted by Curator
SMC3
Recombination rate (female)
Unknown,
Unknown
Bos taurus
cattle - (species)
Domesticated
Association Mapping
Ma L; O'Connell JR; VanRaden PM ; et al. (2015)
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
GP00001666
SMC3
O97594
Physiology
On chromosome 26. Associated SNP located upstream
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
SMC3
Bos taurus
cattle - (species)
Published - Accepted by Curator
SOD1
Xenobiotic resistance (paraquat)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Tsakas SC; Loukas M ; et al. (2001)
Low-activity allele of copper-zinc superoxide dismutase (CuZnSOD) in Drosophila increases paraquat g[...]
GP00001985
Sod1
P61851
Physiology
Insertion of a 0.68kb truncated P-element 47bp downstream of the transcription start site.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
SOD1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001067
Sox10
Q04888
Morphology
melanocyte conserved enhancer deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SOX10
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001068
Sox10
Q04888
Morphology
melanocyte conserved enhancer deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SOX10
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Gunnarsson U; Kerje S; Bed'hom B ; et al. (2011)
The Dark brown plumage color in chickens is caused by an 8.3-kb deletion upstream of SOX10.
1 Additional References
GP00001069
Sox10
Q04888
Morphology
8.3kb deletion upstream of the SOX10 transcription start site
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SOX10
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SOX5
Bird head comb (reduced comb and wattles)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Wright D; Boije H; Meadows JR ; et al. (2009)
Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens.
GP00001070
Sox5
P35710
Morphology
Copy Number Variation in Intron 1 - about 30 copies of a 3 kb sequence - corresponding to about 85 kb of extra sequence
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SOX5
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Sox5/6
Coloration (wing; mimicry)
Cis-regulatory,
Unknown
Hypolimnas misippus
(species)
Intraspecific
Association Mapping
VanKuren NW; Massardo D; Nallu S ; et al. (2019)
Butterfly Mimicry Polymorphisms Highlight Phylogenetic Limits of Gene Reuse in the Evolution of Dive[...]
GP00002429
Morphology
A 10 kb intergenic region located 48kb upstream of the Sox5/6 gene is strongly associated with the wing phenotype. This cis-regulatory change may also affect another neighboring gene, such as pink.
Hypolimnas misippus
(species)
Hypolimnas misippus
(species)
Sox5/6
Hypolimnas misippus
(species)
Published - Accepted by Curator
spineless (ss)
Color vision (eye; photoreceptor composition)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Anderson C; Reiss I; Zhou C ; et al. (2017)
Natural variation in stochastic photoreceptor specification and color preference in Drosophila.
GP00001987
ss
E1JIM6
Physiology
Single base insertion in the ss regulatory region upstream of the ss transcription start site. The insertion affects the stochastic on/off expression of the ss protein seen in the R7 photoreceptors: the presence of the insertion results in a significant decrease in the ratio of ss expressing to non-expressing R7 cells.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
spineless (ss)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
SPR
Coloration (ventral scales)
Cis-regulatory,
Unknown
Podarcis muralis
Common wall lizard - (species)
Intraspecific
Association Mapping
Andrade P; Pinho C; Pérez I de Lanuza G ; et al. (2019)
Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall [...]
GP00002119
Spr
Q64105
Morphology
Podarcis muralis
Common wall lizard - (species)
Podarcis muralis
Common wall lizard - (species)
SPR
Podarcis muralis
Common wall lizard - (species)
Published - Accepted by Curator
SRF3
Hybrid Incompatibility
Unknown,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Alcázar R; García AV; Kronholm I ; et al. (2010)
Natural variation at Strubbelig Receptor Kinase 3 drives immune-triggered incompatibilities between [...]
1 Additional References
GP00001072
SRF3
Q6R2K3
Physiology
Complex haplotype
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
SRF3
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
SRF3
Hybrid Incompatibility
Unknown,
Complex Change
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Alcázar R; García AV; Kronholm I ; et al. (2010)
Natural variation at Strubbelig Receptor Kinase 3 drives immune-triggered incompatibilities between [...]
1 Additional References
GP00001073
SRF3
Q6R2K3
Physiology
Complex haplotype
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
SRF3
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
SRGAP2
Neuronal maturation
Gene Amplification,
Complex Change
Primates
(order)
Intergeneric or Higher
Candidate Gene
Charrier C; Joshi K; Coutinho-Budd J ; et al. (2012)
Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation[...]
1 Additional References
GP00001077
Srgap2
Q91Z67
Physiology
Partial duplications (negative alleles)
Homo sapiens
human - (species)
Primates
(order)
SRGAP2
Primates
(order)
Published - Accepted by Curator
srx-44
Pheromone response (ascaroside)
Cis-regulatory,
Unknown
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Greene JS; Dobosiewicz M; Butcher RA ; et al. (2016)
Regulatory changes in two chemoreceptor genes contribute to a Caenorhabditis elegans QTL for foragin[...]
1 Additional References
GP00001504
srx-43
O45767
Physiology
Phenotypic change mapped to a small region located between 34bp and 72 bp upstream of the srx-44 start codon. This DNA region contains 9 changes between N2 strain and MY14 strain.
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
srx-44
Caenorhabditis elegans
(species)
Published - Accepted by Curator
stanniocalcin 2 (STC2)
Body size (weight)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001478
STC2
O76061
Morphology
T>A 20-kb downstream from coding region
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
stanniocalcin 2 (STC2)
Homo sapiens
human - (species)
Published - Accepted by Curator
StCDF1
Latitudinal adaptation
Coding,
Insertion
Solanum tuberosum
potato - (species) D
Domesticated
Linkage Mapping
Kloosterman B; Abelenda JA; Gomez Mdel M ; et al. (2013)
Naturally occurring allele diversity allows potato cultivation in northern latitudes.
GP00001080
CDF1
Q8W1E3
Physiology
865bp insertion leading to a fusion protein
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species) D
StCDF1
Solanum tuberosum
potato - (species)
Published - Accepted by Curator
sugary 1 (su1) = isoamylase-type starch-debranching enzymes
Fruit sugar content
Coding,
SNP
Zea mays
(species)
Domesticated
Candidate Gene
Dinges JR; Colleoni C; Myers AM ; et al. (2001)
Molecular structure of three mutations at the maize sugary1 locus and their allele-specific phenotyp[...]
1 Additional References
GP00001082
sugary1
O22637
Physiology
F163L and/or W578R; W738R is more likely to be the mutation responsible as it affect a residue conserved in plants and bacteria
Zea mays
(species)
Zea mays
(species)
sugary 1 (su1) = isoamylase-type starch-debranching enzymes
Zea mays
(species)
Published - Accepted by Curator
SUL1
Low-sulfate adaptation (experimental evolution)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
1 Additional References
GP00001083
SUL1
P38359
Physiology
out of 16 lines; 15 distinct SUL1 amplification alleles evolved. Copy number ranged from 2 to 16 ; Amplicon size ranged from 2.5kb to 40kb
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
SUL1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Sulfotransferase-OXA-Resistance (SULT-OR)
Xenobiotic resistance (oxamniquine)
Coding,
Deletion
Schistosoma mansoni
(species) D
Intraspecific
Linkage Mapping
Valentim CL; Cioli D; Chevalier FD ; et al. (2013)
Genetic and molecular basis of drug resistance and species-specific drug action in schistosome paras[...]
GP00001470
SULT-OR
G4VLE5
Physiology
E142del
Schistosoma mansoni
(species)
Schistosoma mansoni
(species) D
Sulfotransferase-OXA-Resistance (SULT-OR)
Schistosoma mansoni
(species)
Published - Accepted by Curator
Sulfotransferase-OXA-Resistance (SULT-OR)
Xenobiotic resistance (oxamniquine)
Coding,
SNP
Schistosoma mansoni
(species) D
Intraspecific
Linkage Mapping
Valentim CL; Cioli D; Chevalier FD ; et al. (2013)
Genetic and molecular basis of drug resistance and species-specific drug action in schistosome paras[...]
GP00001471
SULT-OR
G4VLE5
Physiology
C35R (T>C)
Schistosoma mansoni
(species)
Schistosoma mansoni
(species) D
Sulfotransferase-OXA-Resistance (SULT-OR)
Schistosoma mansoni
(species)
Published - Accepted by Curator
Sulfotransferase-OXA-Resistance (SULT-OR)
Xenobiotic resistance (oxamniquine)
Coding,
SNP
Schistosoma mansoni
(species)
Intraspecific
Candidate Gene
Valentim CL; Cioli D; Chevalier FD ; et al. (2013)
Genetic and molecular basis of drug resistance and species-specific drug action in schistosome paras[...]
GP00001472
SULT-OR
G4VLE5
Physiology
F39 Sm > Y54 Sh (T>A) TTT>TAT
Schistosoma mansoni
(species)
Schistosoma mansoni
(species)
Sulfotransferase-OXA-Resistance (SULT-OR)
Schistosoma mansoni
(species)
Published - Accepted by Curator
SUN
Fruit shape
Gene Amplification,
Complex Change
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Xiao H; Jiang N; Schaffner E ; et al. (2008)
A retrotransposon-mediated gene duplication underlies morphological variation of tomato fruit.
GP00001084
100147716
B1N669
Morphology
Gene duplication
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species)
SUN
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Svb/ovo
Trichome pattern (larva)
9 Mutations:
Cis-regulatory
Drosophila sechellia
(species) D
Interspecific
Linkage Mapping
McGregor AP; Orgogozo V; Delon I ; et al. (2007)
Morphological evolution through multiple cis-regulatory mutations at a single gene.
1 Additional References
GP00001085
ovo
P51521
Morphology
9 mutations
Drosophila simulans
(species)
Drosophila mauritiana
(species)
Drosophila sechellia
(species) D
Svb/ovo
Drosophila sechellia
(species)
Published - Accepted by Curator
SVP (SHORT VEGETATIVE PHASE)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Méndez-Vigo B; Martínez-Zapater JM; Alonso-Blanco C (2013)
The flowering repressor SVP underlies a novel Arabidopsis thaliana QTL interacting with the genetic [...]
GP00001087
SVP
Q9FVC1
Physiology
Ala32Val
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
SVP (SHORT VEGETATIVE PHASE)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
syntaxin-17
Coloration (hair ; graying with age)
Cis-regulatory,
Insertion
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Rosengren Pielberg G; Golovko A; Sundström E ; et al. (2008)
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the[...]
2 Additional References
GP00002272
STX17
P56962
Morphology
4.6-kb duplication in intron 6 of STX17 ; in transgenic zebrafish a construct containing two copies of the duplicated sequence acts as a strong enhancer in neural crest cells and has subsequent melanophore-specific activity whereas a single copy of the duplicated sequence acts as a weak enhancer - consistent with the phenotypic manifestation of the mutation in horses
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
syntaxin-17
Equus caballus
horse - (species)
Published - Accepted by Curator
syntaxin1a
Eusociality
Cis-regulatory,
Unknown
Lasioglossum albipes
(species) D
Intraspecific
Association Mapping
Kocher SD; Mallarino R; Rubin BER ; et al. (2018)
The genetic basis of a social polymorphism in halictid bees.
GP00002624
Syx1A
Q24547
Behavior
Increased expression in eusocial individuals compared to solitary individuals
Lasioglossum albipes
(species)
Lasioglossum albipes
(species) D
syntaxin1a
Lasioglossum albipes
(species)
Published - Accepted by Curator
T-box transcription factor (TBX3)
Coloration (coat)
Cis-regulatory,
SNP
Equus caballus
horse - (species) D
Intraspecific
Linkage Mapping
Imsland F; McGowan K; Rubin CJ ; et al. (2016)
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage colo[...]
GP00001461
TBX3
O15119
Morphology
G>T predicted to affect binding of the CCAT box-binding transcription factors NF-Y and NF-I ; Differs from the wild-type allele by a SNP downstream of the wild-type TBX3 sequence (located 1067bp downstream of the start of the larger nd2 deletion described in the nd2 entry) with allele nd1 = T compared with the wild-type D allele = G); an ancient variant
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
T-box transcription factor (TBX3)
Equus caballus
horse - (species)
Published - Accepted by Curator
T-box transcription factor (TBX3)
Coloration (coat)
Cis-regulatory,
Deletion
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Imsland F; McGowan K; Rubin CJ ; et al. (2016)
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage colo[...]
GP00001462
TBX3
O15119
Morphology
missing sequence of nearly contiguous 1609bp and 8 bp segments
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
T-box transcription factor (TBX3)
Equus caballus
horse - (species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Linkage Mapping
Coste A; Turner V; Ischer F ; et al. (2006)
A mutation in Tac1p, a transcription factor regulating CDR1 and CDR2, is coupled with loss of hetero[...]
GP00001090
TAC1
A7IZW4
Physiology
N977D
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Gene Amplification,
Complex Change
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001091
TAC1
A7IZW4
Physiology
Copy number Variant
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Coding,
Deletion
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001092
TAC1
A7IZW4
Physiology
1a.a. deletion
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance
Coding,
Deletion
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001093
TAC1
A7IZW4
Physiology
7a.a. deletion
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001094
TAC1
A7IZW4
Physiology
G980E
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001095
TAC1
A7IZW4
Physiology
A736V
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001096
TAC1
A7IZW4
Physiology
T225A
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAF5
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001710
TAF5
P38129
Physiology
Gly693Val (G>T at position 616441 according to Table 1) - GGN to GTN position 616441
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
TAF5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
tan
Coloration (abdomen; female)
Cis-regulatory,
Unknown
Drosophila erecta
(species) D
Intraspecific
Linkage Mapping
Yassin A; Bastide H; Chung H ; et al. (2016)
Ancient balancing selection at tan underlies female colour dimorphism in Drosophila erecta.
GP00001097
t
Q9W369
Morphology
exact causing mutation(s) unknown - the t_MSE enhancer from the dark allele drives higher levels of GFP expression in D. melanogaster than from the light allele
Drosophila erecta
(species)
Drosophila erecta
(species) D
tan
Drosophila erecta
(species)
Published - Accepted by Curator
tan
Coloration (abdomen; male)
2 Mutations:
Cis-regulatory
SNP
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Jeong S; Rebeiz M; Andolfatto P ; et al. (2008)
The evolution of gene regulation underlies a morphological difference between two Drosophila sister [...]
1 Additional References
GP00001099
t
Q9W369
Morphology
2 mutations
Drosophila yakuba
(species)
Drosophila santomea
(species) D
tan
Drosophila santomea
(species)
Published - Accepted by Curator
tan
Coloration (abdomen; male)
Cis-regulatory,
Deletion
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Jeong S; Rebeiz M; Andolfatto P ; et al. (2008)
The evolution of gene regulation underlies a morphological difference between two Drosophila sister [...]
1 Additional References
GP00001100
t
Q9W369
Morphology
san MSE del30 (30bp deletion)
Drosophila yakuba
(species)
Drosophila santomea
(species) D
tan
Drosophila santomea
(species)
Published - Accepted by Curator
tan
Coloration (abdomen; male)
Cis-regulatory,
Deletion
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Jeong S; Rebeiz M; Andolfatto P ; et al. (2008)
The evolution of gene regulation underlies a morphological difference between two Drosophila sister [...]
1 Additional References
GP00001101
t
Q9W369
Morphology
san MSE del212 (212bp deletion)
Drosophila yakuba
(species)
Drosophila santomea
(species) D
tan
Drosophila santomea
(species)
Published - Accepted by Curator
tan
Coloration (thorax; abdomen; trident)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Bastide H; Betancourt A; Nolte V ; et al. (2013)
A genome-wide, fine-scale map of natural pigmentation variation in Drosophila melanogaster.
3 Additional References
GP00002622
t
Q9W369
Morphology
exact causing mutation(s) unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tan
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
TAO3
Sporulation efficiency
Cis-regulatory,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Deutschbauer AM; Davis RW (2005)
Quantitative trait loci mapped to single-nucleotide resolution in yeast.
GP00001103
TAO3
P40468
Physiology
E1493Q
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
TAO3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Taqpep
Coloration (coat)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001106
Lvrn
Q2KHK3
Morphology
D228N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Taqpep
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tartan
Organ size (genitalia; clasper)
Bristle number (genitalia; clasper)
Cis-regulatory,
Unknown
Drosophila mauritiana
(species) D
Interspecific
Linkage Mapping
Hagen JFD; Mendes CC; Blogg A ; et al. (2019)
tartan underlies the evolution of Drosophila male genital morphology.
GP00002047
trn
Q9VU51
Morphology
Morphology
no coding changes
Drosophila simulans
(species)
Drosophila mauritiana
(species) D
tartan
Drosophila mauritiana
(species)
Published - Accepted by Curator
TAS1R3
Taste sensitivity (sugar)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Linkage Mapping
Max M; Shanker YG; Huang L ; et al. (2001)
Tas1r3, encoding a new candidate taste receptor, is allelic to the sweet responsiveness locus Sac.
1 Additional References
GP00001110
TAS1R3
Q7RTX0
Physiology
I60T; is predicted to introduce a novel N-linked glycosylation site which might interfere with receptor dimerization
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
TAS1R3
Mus musculus
house mouse - (species)
Published - Accepted by Curator
TAS1R3
Taste sensitivity (sugar)
Coding,
SNP
Calypte anna
Anna's hummingbird - (species) D
Interspecific
Candidate Gene
Baldwin MW; Toda Y; Nakagita T ; et al. (2014)
Sensory biology. Evolution of sweet taste perception in hummingbirds by transformation of the ancest[...]
GP00001306
T1R3
A0A088DCH0
Physiology
19 nonconsecutive amino acids confer sugar responsiveness and they are confined to three different regions of the protein - change(s) in all 3 regions are required for the acquisition of sugar binding- The exact effect of each single amino acid change has not been tested
Gallus gallus
chicken - (species)
Calypte anna
Anna's hummingbird - (species) D
TAS1R3
Calypte anna
Anna's hummingbird - (species)
Published - Accepted by Curator
TAS2R16
Taste sensitivity (bitter)
Coding,
SNP
Lemur catta
Ring-tailed lemur - (species) D
Intergeneric or Higher
Candidate Gene
Itoigawa A; Hayakawa T; Suzuki-Hashido N ; et al. (2019)
A natural point mutation in the bitter taste receptor TAS2R16 causes inverse agonism of arbutin in l[...]
GP00001956
Behavior; Physiology
Ser282Leu TCG>TTG
Varecia variegata
ruffed lemur - (species)
Eulemur macaco
black lemur - (species)
Eulemur flavifrons
Sclater's lemur - (species)
Eulemur fulvus
brown lemur - (species)
Lemur catta
Ring-tailed lemur - (species) D
TAS2R16
Lemur catta
Ring-tailed lemur - (species)
Published - Accepted by Curator
TAS2R16
Taste sensitivity (bitter)
Coding,
SNP
Varecia variegata
ruffed lemur - (species) D
Eulemur macaco
black lemur - (species) D
Eulemur fulvus
brown lemur - (species) D
Nycticebus pygmaeus
pygmy slow loris - (species) D
Intergeneric or Higher
Candidate Gene
Itoigawa A; Hayakawa T; Suzuki-Hashido N ; et al. (2019)
A natural point mutation in the bitter taste receptor TAS2R16 causes inverse agonism of arbutin in l[...]
GP00001957
Behavior; Physiology
Ser282Leu TCG>TTG
Carlito syrichta
Philippine tarsier - (species)
Trachypithecus poliocephalus
White-headed langur - (species)
Varecia variegata
ruffed lemur - (species) D
Eulemur macaco
black lemur - (species) D
Eulemur fulvus
brown lemur - (species) D
Nycticebus pygmaeus
pygmy slow loris - (species) D
TAS2R16
Varecia variegata
ruffed lemur - (species)
Eulemur macaco
black lemur - (species)
Eulemur fulvus
brown lemur - (species)
Nycticebus pygmaeus
pygmy slow loris - (species)
Published - Accepted by Curator
TAS2R38
Taste sensitivity (bitter)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kim UK; Jorgenson E; Coon H ; et al. (2003)
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthioc[...]
1 Additional References
GP00001111
TAS2R38
P59533
Physiology
P49A and/or A262V and/or V296I
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TAS2R38
Homo sapiens
human - (species)
Published - Accepted by Curator
TAS2R38
Taste sensitivity (bitter)
Coding,
SNP
Pan troglodytes
chimpanzee - (species)
Intraspecific
Candidate Gene
Wooding S; Bufe B; Grassi C ; et al. (2006)
Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
GP00001112
TAS2R38
P59533
Physiology
M1R; eliminates start codon; protein initiates at later Met. Protein apparently null for signalling
Pan troglodytes
chimpanzee - (species)
Pan troglodytes
chimpanzee - (species)
TAS2R38
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
TBX15
Ear shape
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Adhikari K; Reales G; Smith AJ ; et al. (2015)
A genome-wide association study identifies multiple loci for variation in human ear morphology.
GP00001113
TBX15
Q96SF7
Morphology
Tbx15 enhancer variation including rs17023457 T or C alleles that affect CART1 binding on a conserved site
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TBX15
Homo sapiens
human - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Zhi D; Da L; Liu M ; et al. (2018)
Whole Genome Sequencing of Hulunbuir Short-Tailed Sheep for Identifying Candidate Genes Related to t[...]
1 Additional References
GP00002289
Tbxt
P20293
Morphology
c.G334T p.G112W
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
TBXT
Ovis aries
sheep - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Linkage Mapping
Haworth K; Putt W; Cattanach B ; et al. (2001)
Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target[...]
3 Additional References
GP00002340
Tbxt
P20293
Morphology
c.189C>G p.I63M
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
TBXT
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
teosinte branched 1 (tb1)
Plant architecture
Inflorescence architecture
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Clark RM; Wagler TN; Quijada P ; et al. (2006)
A distant upstream enhancer at the maize domestication gene tb1 has pleiotropic effects on plant and[...]
2 Additional References
GP00001116
TB1
Q93WI2
Morphology
Morphology
Hopscotch TE insertion
Zea mays
(species)
Zea mays
(species) D
teosinte branched 1 (tb1)
Zea mays
(species)
Published - Accepted by Curator
teosinte glume architecture (tga1)
Cupule retraction
Coding,
SNP
Zea mays
(species)
Domesticated
Linkage Mapping
Wang H; Nussbaum-Wagler T; Li B ; et al. (2005)
The origin of the naked grains of maize.
GP00001118
TGA1
Q39237
Morphology
K6N; the lysine residue being conserved in rice and wheat
Zea mays
(species)
Zea mays
(species)
teosinte glume architecture (tga1)
Zea mays
(species)
Published - Accepted by Curator
tetraspanin
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Association Mapping
Jin L; Wang J; Guan F ; et al. (2018)
Dominant point mutation in a tetraspanin gene associated with field-evolved resistance of cotton bol[...]
GP00002468
Tsp2A
O46101
Physiology
L31S due to a nucleotide substitution T92C. CRISPR knockout of the tetraspanin gene restored susceptibility to a resistant strain whereas inserting the mutation conferred 125-fold resistance in a susceptible strain.
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
tetraspanin
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
TFL1 / HvCEN
Growth determination habit
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Comadran J; Kilian B; Russell J ; et al. (2012)
Natural variation in a homolog of Antirrhinum CENTRORADIALIS contributed to spring growth habit and [...]
GP00001119
TFL1
P93003
Physiology
P135A
Hordeum vulgare
(species)
Hordeum vulgare
(species)
TFL1 / HvCEN
Hordeum vulgare
(species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001121
TFL1
P93003
Physiology
R62S
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Candidate Gene
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001122
TFL1
P93003
Physiology
P113L
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Candidate Gene
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001123
TFL1
P93003
Physiology
R130K
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Candidate Gene
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001124
TFL1
P93003
Physiology
R166W
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
Thermo-tolerance 1 (TT1)
Temperature tolerance
Coding,
SNP
Oryza glaberrima
African rice - (species) D
Interspecific
Linkage Mapping
Li XM; Chao DY; Wu Y ; et al. (2015)
Natural alleles of a proteasome α2 subunit gene contribute to thermotolerance and adaptation of Afri[...]
GP00001566
PAB1
Q10KF0
Physiology
p.R99H
Oryza sativa
rice - (species)
Oryza glaberrima
African rice - (species) D
Thermo-tolerance 1 (TT1)
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
thioester-containing protein 1
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
Unknown
Anopheles coluzzii
(species)
Intraspecific
Linkage Mapping
Blandin SA; Wang-Sattler R; Lamacchia M ; et al. (2009)
Dissecting the genetic basis of resistance to malaria parasites in Anopheles gambiae.
1 Additional References
GP00001125
TEP-I
Q9GYW4
Physiology
coding change - exact causing mutation(s) unknown
Anopheles gambiae
African malaria mosquito - (species)
Anopheles coluzzii
(species)
thioester-containing protein 1
Anopheles coluzzii
(species)
Published - Accepted by Curator
Thyroid stimulating hormone receptor
Metabolism
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Rubin CJ; Zody MC; Eriksson J ; et al. (2010)
Whole-genome resequencing reveals loci under selection during chicken domestication.
1 Additional References
GP00001127
TSHR
P16473
Physiology
Gly558Arg
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Thyroid stimulating hormone receptor
Gallus gallus
chicken - (species)
Published - Accepted by Curator
thyroid-stimulating hormone-beta-2
Metabolic rate
Thyroid Hormone (plasma concentration)
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Candidate Gene
Kitano J; Lema SC; Luckenbach JA ; et al. (2010)
Adaptive divergence in the thyroid hormone signaling pathway in the stickleback radiation.
GP00001288
tshba
B3DJU0
Physiology
Physiology
unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
thyroid-stimulating hormone-beta-2
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
TLR6-TLR1-TLR10 cluster
Immune response
Unknown,
Complex Change
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Laayouni H; Oosting M; Luisi P ; et al. (2014)
Convergent evolution in European and Rroma populations reveals pressure exerted by plague on Toll-li[...]
1 Additional References
GP00001130
TLR1
Q15399
Physiology
Several Complex Haplotypes under positive selection - evidence on Adaptive Introgression from Neanderthal (2 haplotypes) and Denisova (1 haplotype)
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TLR6-TLR1-TLR10 cluster
Homo sapiens
human - (species)
Published - Accepted by Curator
TMEM154
Pathogen resistance (lentivirus)
Coding,
SNP
Ovis aries
sheep - (species) D
Intraspecific
Association Mapping
Heaton MP; Clawson ML; Chitko-Mckown CG ; et al. (2012)
Reduced lentivirus susceptibility in sheep with TMEM154 mutations.
GP00002242
TMEM154
Q6P9G4
Physiology
Mutation at conserved position associated to resistance in homozygous state
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
TMEM154
Ovis aries
sheep - (species)
Published - Accepted by Curator
TMPRSS6
Hematopoiesis (mean blood corpuscular hemoglobin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001618
TMPRSS6
Q8IU80
Physiology
T>C at the associated SNP. Another SNP variant in strong LD p.V736A previously reported to influence iron homeostasis
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TMPRSS6
Homo sapiens
human - (species)
Published - Accepted by Curator
touch insensitive larva B (tilB)
Pupation site choice
Unknown,
Unknown
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Pischedda A; Shahandeh MP; Turner TL (2020)
The Loci of Behavioral Evolution: Evidence That Fas2 and tilB Underlie Differences in Pupation Site [...]
GP00002344
tilB
Q9VR52
Behavior
Gene identified via deficiency mapping. Gene more highly expressed in D. melanogaster than in D. simulans. RNAi in D. melanogaster leads to pupae pupating closer to the food.
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
touch insensitive larva B (tilB)
Drosophila simulans
(species)
Published - Accepted by Curator
TPCN2
Coloration (coat)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2008)
Two newly identified genetic determinants of pigmentation in Europeans.
GP00001131
TPCN2
Q8NHX9
Morphology
Met484Leu and/or Gly734Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TPCN2
Homo sapiens
human - (species)
Published - Accepted by Curator
tra-3 calpain-like protease
Body size (temperature-size interaction)
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Kammenga JE; Doroszuk A; Riksen JA ; et al. (2007)
A Caenorhabditis elegans wild type defies the temperature-size rule owing to a single nucleotide pol[...]
GP00001133
tra-3
Q22036
Physiology
F96L
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
tra-3 calpain-like protease
Caenorhabditis elegans
(species)
Published - Accepted by Curator
trehalase
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002421
Treh
Q9W2M2
Morphology
Increased expression of the trehalase gene in the Red line. No variation in coding region. Strong association with cis-regulatory SNP.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
trehalase
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
Tret1-like
Diapause
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002402
Tret1-1
A1Z8N1
Physiology
The expression level of BmTret1-like in homozygotes (pnd/pnd) is significantly lower (p < 0.01, t test) than that in heterozygotes (pnd/+). CRISPR BmTret1-like knockout lines generate non-diapause eggs. A 747 bp deletion is present in the 3′-untranslated region (3′-UTR) of BmTret1-like in pnd homozygotes
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Tret1-like
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
TRIB2
Body fat distribution (pericardial)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001559
TRIB2
Q92519
Physiology
A>G in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TRIB2
Homo sapiens
human - (species)
Published - Accepted by Curator
TRIM5alpha
Pathogen resistance (retroviruses)
Coding,
SNP
Cercopithecidae
Old World monkeys - (family)
Intraspecific
Candidate Gene
Newman RM; Hall L; Connole M ; et al. (2006)
Balancing selection and the evolution of functional polymorphism in Old World monkey TRIM5alpha.
GP00001135
TRIM5
Q9C035
Physiology
several a.a. substitutions with retrovirus-specific activities; under balancing selection in several species
Cercopithecidae
Old World monkeys - (family)
Cercopithecidae
Old World monkeys - (family)
TRIM5alpha
Cercopithecidae
Old World monkeys - (family)
Published - Accepted by Curator
TRIM5alpha-CypA chimeric gene
Pathogen resistance (retroviruses)
Other,
Insertion
Aotus
night monkeys - (genus)
Intergeneric or Higher
Candidate Gene
Sayah DM; Sokolskaja E; Berthoux L ; et al. (2004)
Cyclophilin A retrotransposition into TRIM5 explains owl monkey resistance to HIV-1.
1 Additional References
GP00001136
TRIM5
Q9C035
Physiology
LINE-mediated retrotransposition of the CyclophilinA gene between exons 7 and 8 of TRIM5alpha
Platyrrhini
New World monkeys - (parvorder)
Aotus
night monkeys - (genus)
TRIM5alpha-CypA chimeric gene
Aotus
night monkeys - (genus)
Published - Accepted by Curator
TRIM5alpha-CypA chimeric gene
Pathogen resistance (retroviruses)
Other,
Insertion
Macaca
macaques - (genus)
Intergeneric or Higher
Candidate Gene
Stoye JP; Yap MW (2008)
Chance favors a prepared genome.
GP00001137
TRIM5
Q9C035
Physiology
LINE-mediated retrotransposition of the CyclophilinA gene into 3'UTR (exon 8) of TRIM5alpha
Cercopithecidae
Old World monkeys - (family)
Macaca
macaques - (genus)
TRIM5alpha-CypA chimeric gene
Macaca
macaques - (genus)
Published - Accepted by Curator
TRK1
Salt tolerance (ammonium)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Reisser C; Dick C; Kruglyak L ; et al. (2013)
Genetic Basis of Ammonium Toxicity Resistance in a Sake Strain of Yeast: A Mendelian Case.
GP00001139
NTRK1
P04629
Physiology
Candidate a.a substitutions in K12 : C1143S; H551P; E1190G; Q1227K
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
TRK1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
TRPV4
Ear size (drop)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
Gandolfi B; Alamri S; Darby WG ; et al. (2016)
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.
1 Additional References
GP00002279
TRPV4
Q9HBA0
Morphology
c.1024G>T p.V342F
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
TRPV4
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tryptophan phenylalanine hydroxylase
Enzymatic activity
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Ruiz-Vázquez P; Silva FJ (1999)
Aberrant splicing of the Drosophila melanogaster phenylalanine hydroxylase pre-mRNA caused by the in[...]
GP00002003
Hn
P17276
Physiology
insertion of the transposable element B104/roo in the exon 3 of the Phenylalanine hydroxylase gene. Its presence alters the Phenylalanine hydroxylase splicing pattern; producing at least two aberrant mRNAs which contain part of the B104 sequence interrupting the coding region. This aberrant splicing is provoked by the use of a cryptic donor site encoded by the B104 3' long terminal repeat in combination with either the gene intron 3 acceptor site or a novel acceptor site generated by the target duplication caused by transposition. One of them; referred as mRNA type 1; encodes a truncated protein that could be predictably non-functional. In mRNA type 2; in spite of a 42 nt insertion; the Phenylalanine hydroxylase reading frame is not altered and it would encode for a protein with 14 extra amino acids which would be able to account for the low enzyme activity detected in this mutant.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tryptophan phenylalanine hydroxylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
TSA2
Xenobiotic resistance (hydrogen peroxide)
Gene Amplification,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Linkage Mapping
Linder RA; Greco JP; Seidl F ; et al. (2017)
The Stress-Inducible Peroxidase TSA2 Underlies a Conditionally Beneficial Chromosomal Duplication in[...]
GP00001831
TSA2
Q04120
Physiology
Chromosome 4 whole duplication. Using a genetic mapping strategy that involves systematically deleting segments of a duplicated chromosome; the authors show that the chromosome IV’s duplication effect is largely due to the generation of a second copy of the stress-inducible cytoplasmic thioredoxin peroxidase TSA2.
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
TSA2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
SNP
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Elleder D; Melder DC; Trejbalova K ; et al. (2004)
Two different molecular defects in the Tva receptor gene explain the resistance of two tvar lines of[...]
GP00002256
tva
Q6JBY7
Physiology
c.120C>G p.C40W
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Twist2
Coloration (coat; white belt)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Awasthi Mishra N; Drögemüller C; Jagannathan V ; et al. (2017)
A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in [...]
2 Additional References
GP00002035
Twist2
Q9D030
Morphology
quadruplication (CNV) of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Twist2
Bos taurus
cattle - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Lyons LA; Imes DL; Rah HC ; et al. (2005)
Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus).
1 Additional References
GP00001142
Tyr
P11344
Morphology
c.679G>T p.G227W
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Lyons LA; Imes DL; Rah HC ; et al. (2005)
Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus).
1 Additional References
GP00001143
Tyr
P11344
Morphology
c. 940G>A p.G302R
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
2 Additional References
GP00001144
Tyr
P11344
Morphology
R402Q
Homo sapiens
human - (species)
Homo sapiens
human - (species)
tyrosinase (TYR)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Panthera leo
lion - (species) D
Intraspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001346
Tyr
P11344
Morphology
c.260G>A p.Arg87Gln
Panthera leo
lion - (species)
Panthera leo
lion - (species) D
tyrosinase (TYR)
Panthera leo
lion - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin; coat)
Coding,
SNP
Equus asinus
ass - (species) D
Intraspecific
Candidate Gene
Utzeri VJ; Bertolini F; Ribani A ; et al. (2016)
The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation [...]
GP00001347
Tyr
P11344
Morphology
c.604C>G p.His202Asp
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
tyrosinase (TYR)
Equus asinus
ass - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin; eye; freckles)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Wilde S; Timpson A; Kirsanow K ; et al. (2014)
Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the l[...]
GP00001348
Tyr
P11344
Morphology
c. C>A p.Ser192Tyr
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
tyrosinase (TYR)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (feathers)
Coding,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Tobita-Teramoto T; Jang GY; Kino K ; et al. (2000)
Autosomal albino chicken mutation (ca/ca) deletes hexanucleotide (-deltaGACTGG817) at a copper-bindi[...]
GP00002308
Tyr
P11344
Morphology
c.817_822del6 p.237-238delDW
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
tyrosinase (TYR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (feathers)
Coding,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Chang CM; Coville JL; Coquerelle G ; et al. (2006)
Complete association between a retroviral insertion in the tyrosinase gene and the recessive white m[...]
GP00002309
Tyr
P11344
Morphology
insertion of a complete avian retroviral sequence in intron 4 causes aberrant transcripts lacking exon 5
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
tyrosinase (TYR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Deletion
Mustela putorius furo
domestic ferret - (subspecies) D
Domesticated
Linkage Mapping
Blaszczyk WM; Distler C; Dekomien G ; et al. (2007)
Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo).
GP00002310
Tyr
P11344
Morphology
Deletion of exon 4 as detected by Southern Blot
Mustela putorius furo
domestic ferret - (subspecies)
Mustela putorius furo
domestic ferret - (subspecies) D
tyrosinase (TYR)
Mustela putorius furo
domestic ferret - (subspecies)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Indel
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Yu Y; Grahn RA; Lyons LA (2019)
Mocha tyrosinase variant: a new flavour of cat coat coloration.
GP00002311
Tyr
P11344
Morphology
c.820_936delinsAATCTC p.I274_L312delinsNL
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase (TYR)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin)
Coding,
Deletion
Megaptera novaeangliae
humpback whale - (species) D
Intraspecific
Candidate Gene
Polanowski AM; Robinson-Laverick SM; Paton D ; et al. (2012 Jan-Feb)
Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).
GP00002314
Tyr
P11344
Morphology
(264 del C) at codon 88
Megaptera novaeangliae
humpback whale - (species)
Megaptera novaeangliae
humpback whale - (species) D
tyrosinase (TYR)
Megaptera novaeangliae
humpback whale - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Aigner B; Besenfelder U; Müller M ; et al. (2000)
Tyrosinase gene variants in different rabbit strains.
GP00002316
Tyr
P11344
Morphology
c.1118C>A p.T373K (also causes albinism in humans)
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
tyrosinase (TYR)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Cavia porcellus
domestic guinea pig - (species) D
Domesticated
Candidate Gene
Yu F; Jiao S; Lai W ; et al. (2018)
Conserved aspartate-to-glycine mutation in tyrosinase is associated with albino phenotype in domesti[...]
GP00002317
Tyr
P11344
Morphology
c.710A>G p.Asp237Gly
Cavia porcellus
domestic guinea pig - (species)
Cavia porcellus
domestic guinea pig - (species) D
tyrosinase (TYR)
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Bubalus bubalis
water buffalo - (species) D
Domesticated
Candidate Gene
Damé MC; Xavier GM; Oliveira-Filho JP ; et al. (2012)
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.
GP00002318
Tyr
P11344
Morphology
c.1431G>A p.W477*
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
tyrosinase (TYR)
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Anistoroaei R; Fredholm M; Christensen K ; et al. (2008)
Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation.
GP00002319
Tyr
P11344
Morphology
c.138T>A p.C46*
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
tyrosinase (TYR)
Neovison vison
American mink - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Benkel BF; Rouvinen-Watt K; Farid H ; et al. (2009)
Molecular characterization of the Himalayan mink.
GP00002320
Tyr
P11344
Morphology
c.1835C>G p.H420Q
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
tyrosinase (TYR)
Neovison vison
American mink - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (skin)
Coding,
SNP
Fejervarya kawamurai
(species) D
Intraspecific
Candidate Gene
Miura I; Tagami M; Fujitani T ; et al. (2018)
Spontaneous tyrosinase mutations identified in albinos of three wild frog species.
GP00002321
Tyr
P11344
Morphology
c.169G>A p.Gly57Arg
Fejervarya kawamurai
(species)
Fejervarya kawamurai
(species) D
tyrosinase (TYR)
Fejervarya kawamurai
(species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
SNP
Cervus elaphus
red deer - (species) D
Intraspecific
Candidate Gene
Reiner G; Tramberend K; Nietfeld F ; et al. (2020)
A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associat[...]
GP00002375
Tyr
P11344
Morphology
"a non-synonymous mutation with exchange of a glycine residue at position 291 of the tyrosinase protein by arginine was identified as the cause of dilution of the coat colour"
The mutation is on nucleotide 871 (G > A) but the exact codons are not specified in the paper.
Cervus elaphus
red deer - (species)
Cervus elaphus
red deer - (species) D
tyrosinase (TYR)
Cervus elaphus
red deer - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Berryere TG; Schmutz SM; Schimpf RJ ; et al. (2003)
TYRP1 is associated with dun coat colour in Dexter cattle or how now brown cow?
GP00001145
Tyrp1
P07147
Morphology
c.1300C>T p.H434Y
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
tyrosinase-related protein 1 (TYRP1)
Bos taurus
cattle - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Goldfinch AD (2002)
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
GP00001146
Tyrp1
P07147
Morphology
deletion of a proline residue in exon 5 (345delP)
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001149
Tyrp1
P07147
Morphology
Ala23Pro
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
tyrosinase-related protein 1 (TYRP1)
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Nadeau NJ; Mundy NI; Gourichon D ; et al. (2007)
Association of a single-nucleotide substitution in TYRP1 with roux in Japanese quail (Coturnix japon[...]
GP00001152
Tyrp1
P07147
Morphology
Phe282Ser
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
tyrosinase-related protein 1 (TYRP1)
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Unknown
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Schmidt-Küntzel A; Eizirik E; O'Brien SJ ; et al. (2005 Jul-Aug)
Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...]
GP00001154
Tyrp1
P07147
Morphology
Two mutations associated with the chocolate (b) allele - one leading to a TYRP1-A3G substitution in the signal peptide and another to an in-frame insertion TYRP1-421ins17/18 caused by a donor splice site mutation in intron 6 -exact causing change unknown
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
tyrosinase-related protein 1 (TYRP1)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Kenny EE; Timpson NJ; Sikora M ; et al. (2012)
Melanesian blond hair is caused by an amino acid change in TYRP1.
GP00001155
Tyrp1
P07147
Morphology
R93C
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
tyrosinase-related protein 1 (TYRP1)
Homo sapiens
human - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Gratten J; Beraldi D; Lowder BV ; et al. (2007)
Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour po[...]
GP00001156
Tyrp1
P07147
Morphology
c. 869G>T p.C290F ; Cys residue involved shows a high degree of evolutionary conservation; it is conserved not only across vertebrates but also in the two paralogues of TYRP1, DCT and TYR
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Wu X; Zhang Y; Shen L ; et al. (2016)
A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color[...]
GP00001327
Tyrp1
P07147
Morphology
g.17599_17604del 6bp deletion in exon 8 resulting in deletion of Met and Gly residues at positions 495 and 496 in TYRP1 protein ; c.1484_1489del6 p.Met495_Gly496del
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Li J; Bed'hom B; Marthey S ; et al. (2019)
A missense mutation in TYRP1 causes the chocolate plumage color in chicken and alters melanosome str[...]
GP00002126
Tyrp1
P07147
Morphology
g.30830367C>A c.640C>A p.His214Asn
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
tyrosinase-related protein 1 (TYRP1)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Goldfinch AD (2002)
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
GP00002233
Tyrp1
P07147
Morphology
c.121T>A p.Cys41Ser
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Wright HE; Schofield E; Mellersh CS ; et al. (2019)
A novel TYRP1 variant is associated with liver and tan coat colour in Lancashire Heelers.
GP00002235
Tyrp1
P07147
Morphology
c.1025T>G p.Phe342Cys
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Becker D; Otto M; Ammann P ; et al. (2015)
The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1[...]
GP00002236
Tyrp1
P07147
Morphology
c.1487G>A p.Gly496Asp
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
tyrosinase-related protein 1 (TYRP1)
Capra hircus
goat - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Raadsma HW; Jonas E; Fleet MR ; et al. (2013)
QTL and association analysis for skin and fibre pigmentation in sheep provides evidence of a major c[...]
GP00002237
Tyrp1
P07147
Morphology
c.2240C>G p.A746V
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Tyrosine hydroxylase
Coloration (body)
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Candidate Gene
Yu HS; Shen YH; Yuan GX ; et al. (2011)
Evidence of selection at melanin synthesis pathway loci during silkworm domestication.
GP00001158
ple
P18459
Morphology
Variation in intron; possibly loss of AbdA binding site
Bombyx mandarina
wild silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Tyrosine hydroxylase
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
tyrosyl-tRNA synthetase (mt-TyrRS)
Hybrid incompatibility (F1 hybrid viability; F1 hybrid sterility)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Meiklejohn CD; Holmbeck MA; Siddiq MA ; et al. (2013)
An Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises [...]
1 Additional References
GP00001972
TyrRS-m
Q9W107
Physiology
C to T mutation at the base of the anticodon stem, so that G:C becomes G:U in the folded mRNA (see Fig. 1 of Hoekstra et al 2013)
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tyrosyl-tRNA synthetase (mt-TyrRS)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
UBE2E2
Body fat distribution (visceral/subcutaneous ratio)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chu AY; Deng X; Fisher VA ; et al. (2017)
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyt[...]
GP00001553
UBE2E2
Q96LR5
Physiology
T>C in associated SNP
Homo sapiens
human - (species)
Homo sapiens
human - (species)
UBE2E2
Homo sapiens
human - (species)
Published - Accepted by Curator
Ubiquitin-specific peptidase 46 (Usp46)
Escape behavior (immobility in inescapable situations)
Coding,
Deletion
Mus musculus
house mouse - (species) D
Intraspecific
Linkage Mapping
Tomida S; Mamiya T; Sakamaki H ; et al. (2009)
Usp46 is a quantitative trait gene regulating mouse immobile behavior in the tail suspension and for[...]
GP00001159
Usp46
P62069
Behavior
1a.a. deletion
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
Ubiquitin-specific peptidase 46 (Usp46)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 1
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001290
VTC1
P40046
Physiology
G>T (Asp > Tyr) @ position 289
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Vacuolar transporter chaperone 4
Metal tolerance (copper)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Ono J; Lo DS ; et al. (2015)
Too much of a good thing: the unique and repeated paths toward copper adaptation.
GP00001296
VTC4
P47075
Physiology
A>G (Tyr > His) @ position 1075
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Vacuolar transporter chaperone 4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
VIN3
Flowering time
Unknown,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ågren J; Oakley CG; Lundemo S ; et al. (2017)
Adaptive divergence in flowering time among natural populations of Arabidopsis thaliana: Estimates o[...]
GP00001538
VIN3
Q9FIE3
Physiology
4 nonsynonymous substitutions and a 3 bp deletion
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
VIN3
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (anti-coagulant drug response; warfarin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Linkage Mapping
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
2 Additional References
GP00001168
VKORC1
Q9BQB6
Physiology
R98W
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Vkorc1
Homo sapiens
human - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (anti-coagulant drug response; warfarin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
2 Additional References
GP00001169
VKORC1
Q9BQB6
Physiology
V29L
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Vkorc1
Homo sapiens
human - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (anti-coagulant drug response; warfarin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
2 Additional References
GP00001170
VKORC1
Q9BQB6
Physiology
V45A
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Vkorc1
Homo sapiens
human - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (anti-coagulant drug response; warfarin)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
2 Additional References
GP00001171
VKORC1
Q9BQB6
Physiology
R58G
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Vkorc1
Homo sapiens
human - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001172
VKORC1
Q9BQB6
Physiology
L128S
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
Vkorc1
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001173
VKORC1
Q9BQB6
Physiology
Y139C
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
Vkorc1
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Mus spretus
western wild mouse - (species)
Intraspecific
Candidate Gene
Song Y; Endepols S; Klemann N ; et al. (2011)
Adaptive introgression of anticoagulant rodent poison resistance by hybridization between old world [...]
GP00001174
VKORC1
Q9BQB6
Physiology
Several candidate coding changes
Mus musculus
house mouse - (species)
Mus spretus
western wild mouse - (species)
Vkorc1
Mus spretus
western wild mouse - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Linkage Mapping
Rost S; Fregin A; Ivaskevicius V ; et al. (2004)
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
GP00001175
VKORC1
Q9BQB6
Physiology
Y139C
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001176
VKORC1
Q9BQB6
Physiology
S56P
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001177
VKORC1
Q9BQB6
Physiology
L128S
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001178
VKORC1
Q9BQB6
Physiology
L128Q
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001179
VKORC1
Q9BQB6
Physiology
L120Q
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Pelz HJ; Rost S; Hünerberg M ; et al. (2005)
The genetic basis of resistance to anticoagulants in rodents.
GP00001180
VKORC1
Q9BQB6
Physiology
Y139S
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Lasseur R; Longin-Sauvageon C; Videmann B ; et al. (2005)
Warfarin resistance in a French strain of rats.
1 Additional References
GP00001181
VKORC1
Q9BQB6
Physiology
Y139F
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
Vkorc1
Xenobiotic resistance (rodenticide; warfarin)
Coding,
SNP
Rattus norvegicus
Norway rat - (species)
Intraspecific
Candidate Gene
Tanaka KD; Kawai YK; Ikenaka Y ; et al. (2013)
A novel mutation in VKORC1 and its effect on enzymatic activity in Japanese warfarin-resistant rats.
GP00001182
VKORC1
Q9BQB6
Physiology
R33P
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species)
Vkorc1
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
VPS13A
Latitudinal adaptation
Coding,
SNP
Sus scrofa
pig - (species) D
Domesticated
Association Mapping
Ai H; Fang X; Yang B ; et al. (2015)
Adaptation and possible ancient interspecies introgression in pigs identified by whole-genome sequen[...]
GP00001571
VPS13A
F1SIL5
Physiology
two nonsynonymous substitutions V>G and F>Y - whether both or only one affects the phenotype is unknown
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
VPS13A
Sus scrofa
pig - (species)
Published - Accepted by Curator
VRN1
Flowering time
Cis-regulatory,
Indel
Lolium perenne
(species)
Intraspecific
Candidate Gene
Asp T; Byrne S; Gundlach H ; et al. (2011)
Comparative sequence analysis of VRN1 alleles of Lolium perenne with the co-linear regions in barley[...]
GP00001183
VRN1
Q8L3W1
Physiology
8.6kb indel in first intron
Lolium perenne
(species)
Lolium perenne
(species)
VRN1
Lolium perenne
(species)
Published - Accepted by Curator
VRN1
Flowering time
Cis-regulatory,
Deletion
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Trevaskis B; Bagnall DJ; Ellis MH ; et al. (2003)
MADS box genes control vernalization-induced flowering in cereals.
GP00001184
VRN1
Q8L3W1
Physiology
Deletion
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
VRN1
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
VRN1
Flowering time
Cis-regulatory,
Insertion
Triticum turgidum
(species) D
Domesticated
Linkage Mapping
Chu CG; Tan CT; Yu GT ; et al. (2011)
A Novel Retrotransposon Inserted in the Dominant Vrn-B1 Allele Confers Spring Growth Habit in Tetrap[...]
GP00002105
VRN1
Q8L3W1
Physiology
5463-bp insertion in the 5'-UTR region of the Vrn-B1 allele. This insertion is a novel retrotransposon (designated as retrotrans_VRN), which is flanked by a 5-bp target site duplication and contains primer binding site and polypurine tract motifs; a 325-bp long terminal repeat and an open reading frame encoding 1231 amino acids. The insertion of retrotrans_VRN results in expression of Vrn-B1 without vernalization.
Triticum turgidum
(species)
Triticum turgidum
(species) D
VRN1
Triticum turgidum
(species)
Published - Accepted by Curator
VRN2
Flowering time
Coding,
SNP
Triticum monococcum
(species)
Domesticated
Linkage Mapping
Yan L; Loukoianov A; Blechl A ; et al. (2004)
The wheat VRN2 gene is a flowering repressor down-regulated by vernalization.
GP00001187
VRN2
Q8W5B1
Physiology
R35W; R is conserved in all of the ZCCT proteins and in all of the CO-like proteins from Arabidopsis; rice; and barley
Triticum monococcum
(species)
Triticum monococcum
(species)
VRN2
Triticum monococcum
(species)
Published - Accepted by Curator
VRS1 = SIX-ROWED SPIKE 1
Plant architecture
Inflorescence architecture
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Komatsuda T; Pourkheirandish M; He C ; et al. (2007)
Six-rowed barley originated from a mutation in a homeodomain-leucine zipper I-class homeobox gene.
1 Additional References
GP00001191
Vrs1
A1IHK8
Morphology
Morphology
Phe75Leu
Hordeum vulgare
(species)
Hordeum vulgare
(species)
VRS1 = SIX-ROWED SPIKE 1
Hordeum vulgare
(species)
Published - Accepted by Curator
VTE3(1)
Vitamin-E synthesis
Cis-regulatory,
Epigenetic Change
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Quadrana L; Almeida J; Asís R ; et al. (2014)
Natural occurring epialleles determine vitamin E accumulation in tomato fruits.
GP00001684
VTE3
Q9LY74
Physiology
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species)
VTE3(1)
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Insertion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Kobayashi S; Goto-Yamamoto N; Hirochika H (2004)
Retrotransposon-induced mutations in grape skin color.
GP00001192
VvmybA1
Q6L973
Morphology
Gret1 retrotransposon insertion
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Deletion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Kobayashi S; Goto-Yamamoto N; Hirochika H (2004)
Retrotransposon-induced mutations in grape skin color.
1 Additional References
GP00001194
VvmybA1
Q6L973
Morphology
Gret1 retrotransposon deletion; leaving behind its 3'-LTR flanked by 5 bp of a duplicated target site
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Deletion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Ferreira V; Matus JT; Pinto-Carnide O ; et al. (2019)
Genetic analysis of a white-to-red berry skin color reversion and its transcriptomic and metabolic c[...]
GP00002096
VvmybA1
Q6L973
Morphology
partial excision of the Gret1 retrotransposon from the promoter region of the MYBA1 anthocyanin regulator - associated with white-to-red berry skin color reversion
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Insertion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Shimazaki M; Fujita K; Kobayashi H ; et al. (2011)
Pink-colored grape berry is the result of short insertion in intron of color regulatory gene.
GP00002097
VvmybA1
Q6L973
Morphology
33 bp insertion in the second intron of the MYBA1 red allele which affects messenger RNA (mRNA) stability - 16 bp of the 3' end in the insertion is a key structure for a defect in splicing of MybA1 transcripts
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Other,
Deletion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Azuma A; Kobayashi S; Goto-Yamamoto N ; et al. (2009)
Color recovery in berries of grape (Vitis vinifera L.) 'Benitaka', a bud sport of 'Italia', is cause[...]
GP00002099
VvmybA1
Q6L973
Morphology
homologous recombination between the non-functional allele of MybA1 and the truncated MybA3 gene at their promoter region, resulting in the recovery of MybA1 genomic integrity (and therefore its transcription) on cv. ‘Benitaka’. The VvmybA1 locus of 'Benitaka' is heterozygous for the VvmybA1a allele (non-functional) and a novel VvmybA1(BEN) allele. VvmybA1(BEN) restores VvmybA1 transcripts.
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA3
Coloration (fruit)
Cis-regulatory,
SNP
Vitis vinifera
wine grape - (species)
Domesticated
Linkage Mapping
Fournier-Level A; Le Cunff L; Gomez C ; et al. (2009)
Quantitative genetic bases of anthocyanin variation in grape (Vitis vinifera L. ssp. sativa) berry: [...]
GP00001196
VvmybA3
Q6L9M7
Morphology
Substitution in promoter
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species)
VvMYBA3
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Insertion
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001198
waxy
Q8L699
Physiology
Transposon insertion TSI-11 (Intron 12)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Insertion
Setaria italica
foxtail millet - (species) D
Domesticated
Linkage Mapping
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001199
waxy
Q8L699
Physiology
Transposon insertion TSI-2 (intron 1)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Insertion
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001200
waxy
Q8L699
Physiology
Transposon insertion TSI-10 (Intron 12)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Deletion
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001203
waxy
Q8L699
Physiology
2.4kb deletion (intron 1)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content (glutinous rice)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Wang ZY; Zheng FQ; Shen GZ ; et al. (1995)
The amylose content in rice endosperm is related to the post-transcriptional regulation of the waxy [...]
3 Additional References
GP00001204
waxy
Q8L699
Physiology
substitution G->T in the 5' splice site of intron 1
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Waxy /GBSS
Oryza sativa
rice - (species)
Published - Accepted by Curator
WIF1
Ear size
Coding,
SNP
Sus scrofa
pig - (species) D
Domesticated
Candidate Gene
Liang J; Zhang Y; Wang L ; et al. (2019)
Molecular cloning of WIF1 and HMGA2 reveals ear-preferential expression while uncovering a missense [...]
GP00002255
WIF1
Q9Y5W5
Morphology
p.Phe236Leu
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
WIF1
Sus scrofa
pig - (species)
Published - Accepted by Curator
wingless (wg)
Coloration (wing)
3 Mutations:
Cis-regulatory
Unknown
Drosophila guttifera
(species) D
Interspecific
Candidate Gene
Koshikawa S; Giorgianni MW; Vaccaro K ; et al. (2015)
Gain of cis-regulatory activities underlies novel domains of wingless gene expression in Drosophila.
1 Additional References
GP00001384
wg
P09615
Morphology
3 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila guttifera
(species) D
wingless (wg)
Drosophila guttifera
(species)
Published - Accepted by Curator
Wnt receptor
Fin morphology (skeleton; dorsal fin)
Cis-regulatory,
Unknown
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002347
Lrp6
O88572
Morphology
Lrp6 gene expression is reduced in goldfish with the dorsal fin loss phenotype. Only four amino acid substitutions in the coding region and all of them are conserved or semi-conserved in zebrafish or medaka lrp6 orthologs. There is a 313-bp deletion in intron 21 of lrp6S in goldfish with the dorsal fin loss phenotype. This intronic deletion may affect induction and proper production of lrp6S mRNA at embryonic stages.
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Wnt receptor
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Wnt1
Coloration (larval color pattern)
Cis-regulatory,
Complex Change
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Yamaguchi J; Banno Y; Mita K ; et al. (2013)
Periodic Wnt1 expression in response to ecdysteroid generates twin-spot markings on caterpillars.
2 Additional References
GP00001385
wg
P09615
Morphology
Fine-resolution mapping of a 34kb regulatory region driving Ecdysteroid-dependent Wnt gain-of-function. The L-specific structural variations upstream of Wnt1-1 may cause its ectopic expression in the spot marking region of the epidermis, resulting in the L phenotype.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Wnt1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Wnt1
Coloration (larval color pattern)
Cis-regulatory,
Deletion
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002403
wg
P09615
Morphology
A specific large deletion (271 kb) is present in the 3′-flanking region of Wnt1. Wnt1 expression is significantly higher in the epidermis of heterozygous LC (LC/+) mutants than in normal strains (+/+).
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Wnt1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Association Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001205
WntA
A0A077DF90
Morphology
unknown
Heliconius erato
crimson-patched longwing - (species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius hecale
(species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001206
WntA
A0A077DF90
Morphology
unknown
Heliconius hecale
(species)
Heliconius hecale
(species)
WntA
Heliconius hecale
(species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius ismenius
(species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001207
WntA
A0A077DF90
Morphology
unknown
Heliconius ismenius
(species)
Heliconius ismenius
(species)
WntA
Heliconius ismenius
(species)
Published - Accepted by Curator
WntA
Coloration (wing; Batesian mimicry)
Cis-regulatory,
Unknown
Limenitis arthemis
white admiral - (species)
Intraspecific
Linkage Mapping
Gallant JR; Imhoff VE; Martin A ; et al. (2014)
Ancient homology underlies adaptive mimetic diversity across butterflies.
GP00001208
WntA
A0A077DF90
Morphology
Complex Haplotype in first intron perfectly associated with phenotype: 173 fixed single-nucleotide polymorphisms (SNPs) in complete linkage disequilibrium (LD) located 23
Limenitis arthemis
white admiral - (species)
Limenitis arthemis
white admiral - (species)
WntA
Limenitis arthemis
white admiral - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Indel
Heliconius cydno
(species)
Intraspecific
Linkage Mapping
Gallant JR; Imhoff VE; Martin A ; et al. (2014)
Ancient homology underlies adaptive mimetic diversity across butterflies.
1 Additional References
GP00001209
WntA
A0A077DF90
Morphology
1.8-kb indel that was perfectly associated with variation in forewing melanin patterning
Heliconius cydno
(species)
Heliconius cydno
(species)
WntA
Heliconius cydno
(species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius pachinus
(species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
1 Additional References
GP00001210
WntA
A0A077DF90
Morphology
Complex cis-regulatory haplotype : 170 fixed differences were detected among comparisons of allopatric H. c. galanthus and H. pachinus
Heliconius cydno
(species)
Heliconius pachinus
(species)
WntA
Heliconius pachinus
(species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001211
WntA
A0A077DF90
Morphology
Not identified
Heliconius himera
(species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001212
WntA
A0A077DF90
Morphology
Not identified
Heliconius himera
(species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001213
WntA
A0A077DF90
Morphology
Not identified
Heliconius himera
(species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius melpomene
postman butterfly - (species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001214
WntA
A0A077DF90
Morphology
unknown ; non-coding with effect on spatial gene expression
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species)
WntA
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
yellow
Coloration (abdomen)
Cis-regulatory,
Unknown
Drosophila kikkawai
(species)
Interspecific
Candidate Gene
Jeong S; Rokas A; Carroll SB (2006)
Regulation of body pigmentation by the Abdominal-B Hox protein and its gain and loss in Drosophila e[...]
GP00001220
y
P09957
Morphology
indel and/or SNP located within a cis-regulatory element
Drosophila melanogaster
fruit fly - (species)
Drosophila kikkawai
(species)
yellow
Drosophila kikkawai
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
SNP
Drosophila gunungcola
(species)
Interspecific
Candidate Gene
Prud'homme B; Gompel N; Rokas A ; et al. (2006)
Repeated morphological evolution through cis-regulatory changes in a pleiotropic gene.
1 Additional References
GP00001221
y
P09957
Morphology
within a 740bp-element; at least two and no more than seven point mutations involved
Drosophila elegans
(species)
Drosophila gunungcola
(species)
yellow
Drosophila gunungcola
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
Unknown
Drosophila biarmipes
(species) D
Interspecific
Candidate Gene
Gompel N; Prud'homme B; Wittkopp PJ ; et al. (2005)
Chance caught on the wing: cis-regulatory evolution and the origin of pigment patterns in Drosophila[...]
GP00001222
y
P09957
Morphology
wing spot activator element; within a 196bp fragment; sequences required for activation in the spot are located within or overlap with bp 425-453
Drosophila
(subgenus)
Drosophila biarmipes
(species) D
yellow
Drosophila biarmipes
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
Unknown
Drosophila biarmipes
(species) D
Interspecific
Candidate Gene
Gompel N; Prud'homme B; Wittkopp PJ ; et al. (2005)
Chance caught on the wing: cis-regulatory evolution and the origin of pigment patterns in Drosophila[...]
GP00001223
y
P09957
Morphology
wing spot repressor element; within a 675-bp fragment;
Drosophila
(subgenus)
Drosophila biarmipes
(species) D
yellow
Drosophila biarmipes
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
Unknown
Drosophila mimetica
(species)
Interspecific
Candidate Gene
Prud'homme B; Gompel N; Rokas A ; et al. (2006)
Repeated morphological evolution through cis-regulatory changes in a pleiotropic gene.
GP00001224
y
P09957
Morphology
within a 740bp-element
Drosophila
(subgenus)
Drosophila mimetica
(species)
yellow
Drosophila mimetica
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
Unknown
Drosophila tristis
(species)
Interspecific
Candidate Gene
Prud'homme B; Gompel N; Rokas A ; et al. (2006)
Repeated morphological evolution through cis-regulatory changes in a pleiotropic gene.
GP00001225
y
P09957
Morphology
within a 927 bp-element
Drosophila
(subgenus)
Drosophila tristis
(species)
yellow
Drosophila tristis
(species)
Published - Accepted by Curator
yellow
Coloration (male-specific)
Unknown,
Unknown
Drosophila merina
(species)
Interspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001550
y
P09957
Morphology
unknown
Drosophila ercepeae
(species)
Drosophila merina
(species)
yellow
Drosophila merina
(species)
Published - Accepted by Curator
yellow
Coloration (male-specific)
Unknown,
Unknown
Drosophila bipectinata
(species)
Interspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001551
y
P09957
Morphology
unknown
Drosophila malerkotliana
(species)
Drosophila bipectinata
(species)
yellow
Drosophila bipectinata
(species)
Published - Accepted by Curator
yellow
Coloration (body; wing)
Cis-regulatory,
Inversion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Zakharenko LP; p6acheva EM; Romanova OA ; et al. (2000)
hobo-induced rearrangements are responsible for mutation bursts at the yellow locus in a natural pop[...]
GP00001961
y
P09957
Morphology
y[2-717] - Inversion that occurred between two hobo elements: one located 129 bp from the start site of yellow transcription and the other in the distal telomere region. The yellow phenotype is caused by the separation of the body and wing enhancers from the transcription unit.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
yellow
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
yellow
Coloration (abdomen; male)
Cis-regulatory,
Unknown
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Liu Y; Ramos-Womack M; Han C ; et al. (2019)
Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.
GP00002023
y
P09957
Morphology
change in a cis-regulatory region - exact causing mutation(s) unknown - decreased yellow abdominal expression associated with lighter color
Drosophila yakuba
(species)
Drosophila santomea
(species) D
yellow
Drosophila santomea
(species)
Published - Accepted by Curator
yellow
Coloration (wing)
Cis-regulatory,
Unknown
Danaus chrysippus
African queen - (species)
Intraspecific
Association Mapping
Martin SH; Singh KS; Gordon IJ ; et al. (2020)
Whole-chromosome hitchhiking driven by a male-killing endosymbiont.
GP00002430
y
P09957
Morphology
A cluster of SNPs most strongly associated with background colour (B locus) is found just upstream of the gene yellow and a phylogenetic network for a 30-kb region around yellow groups individuals nearly perfectly by phenotype; although some individuals classed as heterozygous were intermingled with homozygotes.
Danaus chrysippus
African queen - (species)
Danaus chrysippus
African queen - (species)
yellow
Danaus chrysippus
African queen - (species)
Published - Accepted by Curator
zeb1a
Coloration (fish fins)
Cis-regulatory,
SNP
Tropheops sp. 'red cheek'
(species)
Interspecific
Linkage Mapping
Albertson RC; Powder KE; Hu Y ; et al. (2014)
Genetic basis of continuous variation in the levels and modular inheritance of pigmentation in cichl[...]
GP00001418
zeb1a
F1QMZ5
Morphology
intronic SNP
Labeotropheus fuelleborni
blue mbuna - (species)
Tropheops sp. 'red cheek'
(species)
zeb1a
Tropheops sp. 'red cheek'
(species)
Published - Accepted by Curator
zfl2
Flowering time
Coding,
Deletion
Zea mays
(species) D
Domesticated
Linkage Mapping
Buckler ES; Holland JB; Bradbury PJ ; et al. (2009)
The genetic architecture of maize flowering time.
GP00001226
zfl2
Q5Q1L6
Physiology
16a.a. deletion
Zea mays
(species)
Zea mays
(species) D
zfl2
Zea mays
(species)
Published - Accepted by Curator
zic1/zic4
Fin morphology (skeleton; dorsal fin; caudal fin)
Pigmentation (ventralized trunk)
Cis-regulatory,
Insertion
Oryzias latipes
Japanese medaka - (species) D
Intraspecific
Linkage Mapping
Moriyama Y; Kawanishi T; Nakamura R ; et al. (2012)
The medaka zic1/zic4 mutant provides molecular insights into teleost caudal fin evolution.
1 Additional References
GP00002038
Zic1
P46684
Morphology
Morphology
The mutant phenotype is caused by a dramatic decrease of zic1/zic4 expression in the dorsal somites. The insertion of a transposon (“Albatross”) into an enhancer region (downstream of zic4) of the transcription factors zic1 and zic4 causes this phenotype. Both genes are expressed by a bi-directional promoter. The transposon insertion is proposed to interfere with the transcriptional regulation of zic1/zic4; resulting in the disturbance of the expression of the transcription factors in the dorsal somites (the expression of zic1/zic4 in other parts of the body is not affected in this mutant) and ultimately causing a ventralized trunk phenotype. In Inoue et al. (2017) it was shown that the transposon “Albatross” is actually larger than originally predicted; and is now called “Teratorn”. Teratorn is around 180kb long and appears to originate from the fusion of a DNA transposon and a herpesvirus.
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
zic1/zic4
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
zic1/zic4
Fin morphology (skeleton; caudal fin)
Cis-regulatory,
Deletion
Betta splendens
Siamese fighting fish - (species) D
Domesticated
Linkage Mapping
Wang L; Sun F; Wan ZY ; et al. (2021)
Genomic Basis of Striking Fin Shapes and Colors in the Fighting Fish.
GP00002385
Zic1
P46684
Morphology
"We further sequenced the genomes of both homozygous single- and double-tail fish and found in double tail no large sequence variation except for a ∼180-bp deletion ∼15-kb downstream of zic4 (fig. 4C and supplementary fig. S19a, Supplementary Material online). This deletion was located in a cluster of CNEs and coincided with predicted CNE.006008 (supplementary fig. S19b, Supplementary Material online)."
"We observed that the wild-type ST allele significantly enhanced green fluorescent protein (GFP) expression in embryos at 24 hpf, when both zic1 and zic4 show differential expression between double-tail and wild-type fish (Moriyama et al. 2012), whereas no visible GFP expression was detected for the st allele (fig. 4E and supplementary table S11, Supplementary Material online). The efficiency of the two alleles as candidate enhancers was further examined using a Dual-Luciferase Reporter Assay, which showed that the ST allele enhanced luciferase expression by ∼10× relative to st allele in Singapore grouper embryonic cell line (fig. 4F)."
"Finally, we deleted this enhancer using the CRISPR-Cas9 system in fighting fish. Considering the efficiency of tested gRNAs and the cluster of CNEs that could have unpredicted functions, we limited the modification to the CNE.006008 region and did not involve the other CNEs (supplementary fig. S20, Supplementary Material online). Genetic analysis revealed that none of these fish had completely deleted CNE.006008, suggesting nonsimultaneous cutting at multiple targeted gRNA positions. These mosaic fish (n = 7) had significantly more fin rays than the noninjected controls (P < 0.01; fig. 4G). "
Betta splendens
Siamese fighting fish - (species)
Betta splendens
Siamese fighting fish - (species) D
zic1/zic4
Betta splendens
Siamese fighting fish - (species)
Published - Accepted by Curator
Zmr1
Xenobiotic resistance (fungicide)
Melanin content
2 Mutations:
Cis-regulatory
Zymoseptoria tritici
(species)
Intraspecific
Linkage Mapping
Krishnan P; Meile L; Plissonneau C ; et al. (2018)
Transposable element insertions shape gene regulation and melanin production in a fungal pathogen of[...]
GP00001715
CMR1
Q06F33
Physiology
Physiology
2 mutations
Zymoseptoria tritici
(species)
Zymoseptoria tritici
(species)
Zmr1
Zymoseptoria tritici
(species)
Published - Accepted by Curator
ZmVPP1
Drought tolerance
Cis-regulatory,
Insertion
Zea mays
(species)
Intraspecific
Association Mapping
Wang X; Wang H; Liu S ; et al. (2016)
Genetic variation in ZmVPP1 contributes to drought tolerance in maize seedlings.
GP00001567
GRMZM2G170927
A0A172DSU8
Physiology
A 366-bp insertion in the promoter containing 3 MYB cis elements confers drought-inducible expression of ZmVPP1 in drought-tolerant genotypes
Zea mays
(species)
Zea mays
(species)
ZmVPP1
Zea mays
(species)
Published - Accepted by Curator
β-adrenergic octopamine receptor gene (AOR)
Xenobiotic resistance (amitraz)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Association Mapping
Corley SW; Jonsson NN; Piper EK ; et al. (2013)
Mutation in the RmβAOR gene is associated with amitraz resistance in the cattle tick Rhipicephalus m[...]
1 Additional References
GP00002396
Oct-TyrR
P22270
Physiology
L64I
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
β-adrenergic octopamine receptor gene (AOR)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator