ABC transporter pvmrp1
Xenobiotic resistance (multiresistance to antimalarial drugs)
Unknown,
Unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001486
PVX_097025
A5KCN4
Physiology
unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species)
ABC transporter pvmrp1
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
ABCA1
Coloration (feathers)
Cholesterol metabolism
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Attie AD; Hamon Y; Brooks-Wilson AR ; et al. (2002)
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of t[...]
GP00001682
Abca1
P41233
Morphology; Physiology
Morphology; Physiology
amino acid substitution at a residue that is conserved in the ABCA1 gene between human; mouse; chicken; and Takifugu rubripes. Generation of a mouse ABCA1 protein with the mutation disrupts protein function. N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
ABCA1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homininae
(subfamily)
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000017
ABO
P16442
Physiology
Gly268 (group A) <-> Ala (group B)
Homininae
(subfamily)
Homininae
(subfamily)
ABO histo blood group glycosyltransferase
Homininae
(subfamily)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homininae
(subfamily)
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000018
ABO
P16442
Physiology
Leu266 (group A) <-> Met (group B)
Homininae
(subfamily)
Homininae
(subfamily)
ABO histo blood group glycosyltransferase
Homininae
(subfamily)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000019
ABO
P16442
Physiology
1bp deletion (258G) resulting in frameshift N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
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
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-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)
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
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 (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)
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.
GP00001331
Asip
Q03288
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)
Agouti (ASIP)
Vermivora cyanoptera
blue-winged warbler - (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)
Coding,
Insertion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Forestier L; Allain D ; et al. (2010)
Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic an[...]
1 Additional References
GP00001968
Asip
Q03288
Morphology
an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Agouti (ASIP)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
Deletion
N
Camelus dromedarius
Arabian camel - (species) D
Domesticated
Candidate Gene
Almathen F; Elbir H; Bahbahani H ; et al. (2018)
Polymorphisms in MC1R and ASIP Genes are Associated with Coat Color Variation in the Arabian Camel.
1 Additional References
GP00001978
Asip
Q03288
Morphology
1-bp deletion at position 23 resulting in frameshift N
Camelus dromedarius
Arabian camel - (species)
Camelus dromedarius
Arabian camel - (species) D
Agouti (ASIP)
Camelus dromedarius
Arabian camel - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
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 (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 (coat; dorso-ventral)
Coding,
Insertion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Letko A; Ammann B; Jagannathan V ; et al. (2020)
A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform i[...]
GP00002373
Asip
Q03288
Morphology
"The structural variant represented an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del; Fig. 2). In rabbit, there are currently two ASIP transcript isoforms annotated (NCBI annotation release 102). The deletion removes the entire first 5′-untranslated exon of one of these transcripts (NM_001122939.1). (...) he deletion removed the transcription start site and the first untranslated exon of the presumably hair cycle-specific transcript isoform, suggesting that this is the most likely causative variant for the black and tan phenotype." N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Agouti (ASIP)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
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
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001806
Ahr
P30561
Physiology
70 kb deletion that removes parts of the two genes AHR1a and AHR2a N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001807
Ahr
P30561
Physiology
45 kb deletion that removes parts of the two genes AHR1a and AHR2a (from exon 5 of AHR2a to exon 4 of AHR1a) N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001808
Ahr
P30561
Physiology
83 kb deletion that removes parts of the two genes AHR1a and AHR2a (from exon 11 of AHR2a to exon 6 of AHR1a) N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002669
Ahr
P30561
Physiology
70 kb deletion that removes parts of the two genes AHR1a and AHR2a N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
AHR2
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
AIP
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
GP00001812
Aip
O08915
Physiology
exact mutation(s) unknown - very good candidate gene according to association mapping and knowledge about the physiology N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AIP
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AIP
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002670
Aip
O08915
Physiology
exact mutation(s) unknown - very good candidate gene according to Fst and knowledge about the physiology N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
AIP
Fundulus grandis
Gulf killifish - (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
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
an2-like (Stan2)
Coloration (tuber skin)
Cis-regulatory,
Unknown
Solanum tuberosum
potato - (species)
Domesticated
Linkage Mapping
Jung CS; Griffiths HM; De Jong DM ; et al. (2009)
The potato developer (D) locus encodes an R2R3 MYB transcription factor that regulates expression of[...]
GP00000088
AN2
A4GRU8
Morphology
unknown
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species)
an2-like (Stan2)
Solanum tuberosum
potato - (species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Deletion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000089
AN2
A4GRU8
Morphology
1bp deletion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000090
AN2
A4GRU8
Morphology
4bp insertion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000091
AN2
A4GRU8
Morphology
W196* N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Deletion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000092
AN2
A4GRU8
Morphology
1bp deletion; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Interspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000093
AN2
A4GRU8
Morphology
1 aa substitution; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Interspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000094
AN2
A4GRU8
Morphology
1 aa substitution; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
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
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
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
ARNT-1c
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002672
P27540NULL
Physiology
exact mutation(s) unknown - very good candidate gene according to high differentiation region on chromosome 8 and knowledge about the physiology. ARNT1c is a nuclear dimerization partner of aryl hydrocarbon receptor (AHR) required for activation of the xenobiotic response pathway. N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
ARNT-1c
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
ARNT-L2a
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002671
P27540NULL
Physiology
exact mutation(s) unknown - very good candidate gene according to high differentiation region on chromosome 10 and knowledge about the physiology. ARNT-L2a is a nuclear dimerization partner of aryl hydrocarbon receptor (AHR) required for activation of the xenobiotic response pathway. N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
ARNT-L2a
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
B2
Coloration (bulb)
Cis-regulatory,
Insertion
N
Allium cepa
onion - (species) D
Domesticated
Linkage Mapping
Jo C; Kim S (2019)
Transposition of a non-autonomous DNA transposon in the gene coding for a bHLH transcription factor [...]
GP00002058
Morphology
577-bp insertion of a transposable element named AcWHITE in the 5′ upstream region of the white allele of B2. A 8-bp target site duplication (GTTATA AC) and a 7-bp terminal inverted repeat (CAAGGTT) were identified at both ends of this insertion - no SNP detected in the coding region N
Allium cepa
onion - (species)
Allium cepa
onion - (species) D
B2
Allium cepa
onion - (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
BBS9 (+ BMPER)
Growth rate
Coding,
Deletion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Association Mapping
Derks MFL; Lopes MS; Bosse M ; et al. (2018)
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes[...]
GP00002341
Bbs9
Q811G0
Physiology
212kb deletion resulting in truncated BBS9 protein and recessive loss of neighbor gene expression BMPER N
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
BBS9 (+ BMPER)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (skin ; shanks)
Cis-regulatory,
Unknown
Gallus sonneratii
gray junglefowl - (species) D
Gallus gallus
chicken - (species) D
Interspecific
Linkage Mapping
Eriksson J; Larson G; Gunnarsson U ; et al. (2008)
Identification of the yellow skin gene reveals a hybrid origin of the domestic chicken.
1 Additional References
GP00000139
BCO2
Q9BYV7
Morphology; Physiology
Not identified
Gallus gallus
chicken - (species)
Gallus sonneratii
gray junglefowl - (species) D
Gallus gallus
chicken - (species) D
BCO2 = beta-carotene oxygenase 2
Gallus sonneratii
gray junglefowl - (species)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow fat)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Våge DI; Boman IA (2010)
A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumula[...]
1 Additional References
GP00000140
BCO2
Q9BYV7
Physiology
g.21947481C>T ; c.196C>T ; p.Q66* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BCO2 = beta-carotene oxygenase 2
Ovis aries
sheep - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
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 (yellow fat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Strychalski J; Brym P; Czarnik U ; et al. (2015)
A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits.
GP00002152
BCO2
Q9BYV7
Physiology
AAT-deletion mutation at Asp codon 248 of the BCO2 gene located at the beginning of exon 6 which results in the removal of an Asp N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
BCO2 = beta-carotene oxygenase 2
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
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
Bh4
Coloration (seed hull)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Zhu BF; Si L; Wang Z ; et al. (2011)
Genetic control of a transition from black to straw-white seed hull in rice domestication.
1 Additional References
GP00000143
Bh4
A0A0H3ZGK8
Morphology
22-bp deletion N
Oryza rufipogon
(species)
Oryza sativa
rice - (species) D
Bh4
Oryza sativa
rice - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002078
BHLH2
Q9CAD0
Morphology
two copies of 3.9-kb Tip100 integrated into bHLH2 exon 7 and intron 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002085
BHLH2
Q9CAD0
Morphology
only one copy of Tip100 in exon 7 and no apparent footprint of Tip100 in intron 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002086
BHLH2
Q9CAD0
Morphology
insertion of 838 bp IpMu1 in exon 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Domesticated
Candidate Gene
Spelt C; Quattrocchio F; Mol J ; et al. (2002)
ANTHOCYANIN1 of petunia controls pigment synthesis, vacuolar pH, and seed coat development by geneti[...]
GP00002092
BHLH2
Q9CAD0
Morphology
insertion of a dTph1 transposon in the AN1 gene N
Petunia axillaris
(species)
Petunia axillaris
(species) D
bHLH2
Petunia axillaris
(species)
Published - Accepted by Curator
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
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
cardinal
Coloration (eyes)
Coding,
Insertion
N
Tribolium castaneum
red flour beetle - (species) D
Domesticated
Candidate Gene
Shirai Y; Daimon T (2020)
Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]
GP00002665
cd
Q9VCW2
Morphology
A fragment of a transposable element (about 5 kb - 99% identical in amino acids to a putative retrotransposon (XP_015838217)) is inserted into exon 6. This insertion introduced a premature stop codon just after the insertion site. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species) D
cardinal
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
Deletion
N
Tribolium castaneum
red flour beetle - (species) D
Domesticated
Candidate Gene
Shirai Y; Daimon T (2020)
Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]
GP00002666
cd
Q9VCW2
Morphology
1-bp deletion in exon 6 that causes a frameshift mutation. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species) D
cardinal
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
SNP
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Candidate Gene
Osanai-Futahashi M; Tatematsu KI; Futahashi R ; et al. (2016)
Positional cloning of a Bombyx pink-eyed white egg locus reveals the major role of cardinal in ommoc[...]
GP00002667
cd
Q9VCW2
Morphology
Missense mutation in a conserved motif in exon 9. The tryptophan residue which is converted to arginine in the two pe strains is widely conserved in holometabolous insects. N
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
cardinal
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
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
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
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
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
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
3 Mutations:
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Amrad A; Moser M; Mandel T ; et al. (2016)
Gain and Loss of Floral Scent Production through Changes in Structural Genes during Pollinator-Media[...]
GP00001391
CNL
A0A172W603
Physiology
3 mutations
Petunia axillaris
(species)
Petunia exserta
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Petunia exserta
(species)
Published - Accepted by Curator
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)
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
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
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
CYP79D15
Toxicity levels (cyanogenic glucoside)
Gene Loss,
Deletion
N
Trifolium repens
white clover - (species) D
Intraspecific
Linkage Mapping
Olsen KM; Hsu SC; Small LL (2008)
Evidence on the molecular basis of the Ac/ac adaptive cyanogenesis polymorphism in white clover (Tri[...]
1 Additional References
GP00000211
CYP79D15
B2Y2T9
Physiology
Gene deletion N
Trifolium repens
white clover - (species)
Trifolium repens
white clover - (species) D
CYP79D15
Trifolium repens
white clover - (species)
Published - Accepted by Curator
DCAR-032551
Carotenoid content
Coding,
Insertion
N
Daucus carota
carrot - (species) D
Domesticated
Linkage Mapping
Iorizzo M; Ellison S; Senalik D ; et al. (2016)
A high-quality carrot genome assembly provides new insights into carotenoid accumulation and asterid[...]
GP00001568
DCAR_032551
A0A162A3G8
Morphology
A 212-nt insertion in exon 2 that creates a frameshift mutation N
Daucus carota
carrot - (species)
Daucus carota
carrot - (species) D
DCAR-032551
Daucus carota
carrot - (species)
Published - Accepted by Curator
Dihydroflavonol 4 reductase (MlDfr)
Coloration (flower)
Coding,
Insertion
N
Erythranthe lewisii
(species) D
Intraspecific
Candidate Gene
Wu CA; Streisfeld MA; Nutter LI ; et al. (2013)
The genetic basis of a rare flower color polymorphism in Mimulus lewisii provides insight into the r[...]
GP00001457
DFRA
P51102
Morphology
A 2 nt (TG) insertion at position 265 causing a frameshift and a greatly truncated protein of 106 aa only about one-fourth of its functional length N
Erythranthe lewisii
(species)
Erythranthe lewisii
(species) D
Dihydroflavonol 4 reductase (MlDfr)
Erythranthe lewisii
(species)
Published - Accepted by Curator
dihydroflavonol reductase (DFR)
Coloration (flowers)
Coding,
Deletion
Iochroma calycinum
(species) D
Intraspecific
Candidate Gene
Coburn RA; Griffin RH; Smith SD (2015)
Genetic basis for a rare floral mutant in an Andean species of Solanaceae.
GP00000224
DFRA
P51102
Morphology
33bp (11 a.a) deletion In coding sequence
Iochroma calycinum
(species)
Iochroma calycinum
(species) D
dihydroflavonol reductase (DFR)
Iochroma calycinum
(species)
Published - Accepted by Curator
dihydroflavonol reductase (DFR)
Coloration (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
Dihydrofolate reductase (pvdhfr)
Xenobiotic resistance (pyrimethamine)
Unknown,
Unknown
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.
GP00001484
DHFR
P00374
Physiology
unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species) D
Dihydrofolate reductase (pvdhfr)
Plasmodium vivax
malaria parasite P. vivax - (species)
Published - Accepted by Curator
Dihydropteroate synthase (pvdhps)
Xenobiotic resistance (sulfadoxine)
Unknown,
Unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001485
DHPS
Q00LX9
Physiology
unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species)
Dihydropteroate synthase (pvdhps)
Plasmodium vivax
malaria parasite P. vivax - (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
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
Ectodysplasin (EDA)
Dermal bone (loss of armor plates)
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Interspecific
Linkage Mapping
Colosimo PF; Hosemann KE; Balabhadra S ; et al. (2005)
Widespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles.
2 Additional References
GP00000254
Eda
O54693
Morphology
large haplotype- includes a T-> G regulatory change that affect expression based on differential responsiveness to Wnt signaling
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
Ectodysplasin (EDA)
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
EDN3
Coloration
Cis-regulatory,
Unknown
Ambystoma mexicanum
axolotl - (species) D
Domesticated
Candidate Gene
Woodcock MR; Vaughn-Wolfe J; Elias A ; et al. (2017)
Identification of Mutant Genes and Introgressed Tiger Salamander DNA in the Laboratory Axolotl, Amby[...]
GP00002377
EDN3
P14138
Morphology
Ambystoma mexicanum
axolotl - (species)
Ambystoma mexicanum
axolotl - (species) D
EDN3
Ambystoma mexicanum
axolotl - (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
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
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
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
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
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
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Deletion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000315
CYP75B1
Q9SD85
Morphology
-1bp at +973 resulting in premature stop codon N
Glycine max
soybean - (species)
Glycine soja
(species) D
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Deletion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000316
CYP75B1
Q9SD85
Morphology
-1bp at +1164 resulting in premature stop codon N
Glycine max
soybean - (species)
Glycine soja
(species) D
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Indel
Glycine soja
(species)
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000317
CYP75B1
Q9SD85
Morphology
a single base insertion of an adenine at position 965 as well as a single base deletion of adenine at position 973 resulting in N322K and Q324T - exact causing mutation(s) unknown
Glycine max
soybean - (species)
Glycine soja
(species)
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers; pubescence; seeds)
Coding,
Insertion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000322
CYP75A2
P37120
Morphology
53bp insertion at +1352 N
Glycine max
soybean - (species)
Glycine soja
(species) D
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
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
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
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
HAO1
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
GP00000437
HAO1
E1BRR7
Physiology
Morphology
unknown; but intergenic QTL peak with decomposed effects on expression of BMP2 and HAO1
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
HAO1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
HMGA2
Ear size
Unknown,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Li P; Xiao S; Wei N ; et al. (2012)
Fine mapping of a QTL for ear size on porcine chromosome 5 and identification of high mobility group[...]
GP00000487
HMGA2
P52926
Morphology
unknown
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
HMGA2
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
HMGA2
Body size (dwarfism)
Cranio-facial morphology
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Association Mapping
Carneiro M; Hu D; Archer J ; et al. (2017)
Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA[...]
GP00001675
HMGA2
P52926
Morphology
Morphology
deletion of 12.1 kb overlapping the promoter region and first three exons leading to inactivation of the gene. The 5'-end of this deletion overlaps a CSINE2 element N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
HMGA2
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
HTR2C serotonin receptor
Immune response (complement activation)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001595
HTR2C
F1N989
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
HTR2C serotonin receptor
Gallus gallus
chicken - (species)
Published - Accepted by Curator
HTR3A serotonin receptor
Immune response (antibody titre)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001596
HTR3A
A0A1D5P8L2
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
HTR3A serotonin receptor
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Human Leukocyte Antigen-B (HLA-B)
Pathogen resistance (HIV control)
5 Mutations:
Coding
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
; Pereyra F; Jia X ; et al. (2010)
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
GP00000492
HLA-B
P01889
Physiology
5 mutations
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Human Leukocyte Antigen-B (HLA-B)
Homo sapiens
human - (species)
Published - Accepted by Curator
HvbHLH1
Coloration
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Association Mapping
Cockram J; White J; Zuluaga DL ; et al. (2010)
Genome-wide association mapping to candidate polymorphism resolution in the unsequenced barley genom[...]
GP00000493
bHLH1
E5FCX3
Morphology
16bp deletion resulting in premature stop codon N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
HvbHLH1
Hordeum vulgare
(species)
Published - Accepted by Curator
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
Interleukin 10 (IL10)
Immune response (antibody titre and complement activation)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001597
IL10
Q6A2H4
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Interleukin 10 (IL10)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Interleukin 12B (IL12B)
Immune response (antibody titre)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001594
IL-12B
Q6X0K9
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Interleukin 12B (IL12B)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Interleukin 17A (IL17A)
Immune response (antibody titre and complement activation)
Unknown,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Biscarini F; Bovenhuis H; van Arendonk JA ; et al. (2010)
Across-line SNP association study of innate and adaptive immune response in laying hens.
GP00001593
IL17A
B4ER12
Physiology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Interleukin 17A (IL17A)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
KCNH4 - uncertain
Freshwater adaptation
Unknown,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Association Mapping
Jones FC; Grabherr MG; Chan YF ; et al. (2012)
The genomic basis of adaptive evolution in threespine sticklebacks.
GP00000510
KCNH4
Q9UQ05
Physiology
Large Inversion resulting in alternative transcripts
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
KCNH4 - uncertain
Gasterosteus aculeatus
three-spined stickleback - (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
Kit
Coloration (coat ; white-spotting)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Wong AK; Ruhe AL; Robertson KR ; et al. (2013)
A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs.
GP00002228
Kit
P05532
Morphology
a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2 resulting in frameshift N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Kit
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
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)
Coding,
SNP
N
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00000516
Kit
P05532
Morphology
c.2151C>G pY717* N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
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 (coat)
Unknown,
Unknown
Vulpes vulpes
red fox - (species) D
Domesticated
Association Mapping
Kukekova AV; Johnson JL; Kharlamova AV ; et al. (2016)
Georgian white coat color of red fox (Vulpes vulpes) maps to fox chromosome 2 in the region containi[...]
GP00001328
Kit
P05532
Morphology
unknown
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 (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
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002198
Kit
P05532
Morphology
c.706A>T p.K236* N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002199
Kit
P05532
Morphology
c.1805C>T p.A602V
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002200
Kit
P05532
Morphology
c.1960G>A p.G654R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002201
Kit
P05532
Morphology
c.2222-1G>A (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002202
Kit
P05532
Morphology
c.1126_1129delGAAC p.E376FfsX3 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002203
Kit
P05532
Morphology
c.2684+1G>A (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002204
Kit
P05532
Morphology
c.338-1G>C (putative splicing site)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002205
Kit
P05532
Morphology
c.2193delG p.T732QfsX9 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002206
Kit
P05532
Morphology
c.856G>A p.G286R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002207
Kit
P05532
Morphology
c.1597T>C p.C533R
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002208
Kit
P05532
Morphology
c.2021T>C p.L674P
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002209
Kit
P05532
Morphology
c.2001A>T p.E667D
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002210
Kit
P05532
Morphology
c.2472+5G>C (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002211
Kit
P05532
Morphology
c.2489A>T p.K830I
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002212
Kit
P05532
Morphology
c.2392_2445del p.H798_N815del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002213
Kit
P05532
Morphology
c.2045G>A p.R682H
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002214
Kit
P05532
Morphology
c.1322A>G p.Y441C
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Jude R; Haase B ; et al. (2013)
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
GP00002215
Kit
P05532
Morphology
c.1346 + 1G>A (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Jagannathan V; Rieder S ; et al. (2015)
A novel KIT variant in an Icelandic horse with white-spotted coat colour.
GP00002216
Kit
P05532
Morphology
c.2369delC p.Ala790Glufs*20 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
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,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Dürig N; Jude R; Holl H ; et al. (2017)
Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotte[...]
GP00002219
Kit
P05532
Morphology
g.77;740;239_77;742;136del1898insTATAT ~1.9-kb deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002220
Kit
P05532
Morphology
c.1473T>G p.Cys491Trp
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002221
Kit
P05532
Morphology
c.2536delA p.Ser846Valfs*15
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hoban R; Castle K; Hamilton N ; et al. (2018)
Novel KIT variants for dominant white in the Australian horse population.
GP00002222
Kit
P05532
Morphology
c.668T>C p.Leu223Pro
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hug P; Jude R; Henkel J ; et al. (2019)
A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.
GP00002223
Kit
P05532
Morphology
g.79;579;925-79;581;197del 1273bp deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
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 (type III receptor protein-tyrosine kinase)
Coloration (coat ; white-spotting)
Coding,
Deletion
N
Camelus dromedarius
Arabian camel - (species) D
Domesticated
Candidate Gene
Holl H; Isaza R; Mohamoud Y ; et al. (2017)
A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel.
GP00002229
Kit
P05532
Morphology
c.1842delG p.M614IfsX5 N
Camelus dromedarius
Arabian camel - (species)
Camelus dromedarius
Arabian camel - (species) D
Kit (type III receptor protein-tyrosine kinase)
Camelus dromedarius
Arabian camel - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]
Coloration (coat)
Gene Amplification,
Complex Change
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).
GP00001342
Kit
P05532
Morphology
serial translocations Cs6 and Cs29
Bos grunniens
domestic yak - (species)
Bos grunniens
domestic yak - (species) D
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]
Coloration (coat)
Unknown,
Complex Change
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).
GP00001343
Kit
P05532
Morphology
haplotype Swf (indels and SNP)
Bos grunniens
domestic yak - (species)
Bos grunniens
domestic yak - (species) D
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
Kit ligand
Coloration (coat)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Seitz JJ; Schmutz SM; Thue TD ; et al. (1999)
A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and[...]
1 Additional References
GP00000101
KITLG
P21583
Morphology
Ala193Asp ; missense mutation at position 654 - according to OMIA: c.572C>A p.A191N N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Kit ligand
Bos taurus
cattle - (species)
Published - Accepted by Curator
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
Linamarase
Toxicity levels (cyanogenic glucoside)
Gene Loss,
Deletion
N
Trifolium repens
white clover - (species) D
Intraspecific
Linkage Mapping
Olsen KM; Hsu SC; Small LL (2008)
Evidence on the molecular basis of the Ac/ac adaptive cyanogenesis polymorphism in white clover (Tri[...]
1 Additional References
GP00000549
LI
P26205
Physiology
Gene deletion N
Trifolium repens
white clover - (species)
Trifolium repens
white clover - (species) D
Linamarase
Trifolium repens
white clover - (species)
Published - Accepted by Curator
LIPH
Hair length
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Linkage Mapping
Diribarne M; Mata X; Chantry-Darmon C ; et al. (2011)
A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Ory[...]
GP00000550
Liph
Q8CIV3
Morphology
1bp deletion resulting in frameshift N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
LIPH
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
2 Mutations:
Coding
SNP
Vulpes lagopus
Arctic fox - (species)
Interspecific
Candidate Gene
Våge DI; Fuglei E; Snipstad K ; et al. (2005)
Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...]
1 Additional References
GP00000569
MC1R
Q01726
Morphology
2 mutations
Vulpes vulpes
red fox - (species)
Vulpes lagopus
Arctic fox - (species)
MC1R
Vulpes lagopus
Arctic fox - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
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,
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
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
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
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 (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,
Insertion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Kijas JM; Moller M; Plastow G ; et al. (2001)
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pig[...]
1 Additional References
GP00000631
MC1R
Q01726
Morphology
2bp insertion at 23 generates early stop @ 56 & D"121"N ? N
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000632
MC1R
Q01726
Morphology
V"92"M actually at 95
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000633
MC1R
Q01726
Morphology
D"121"N Actually 124
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000634
MC1R
Q01726
Morphology
A"161"V actually 164
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000635
MC1R
Q01726
Morphology
L"99" P Actually 102
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000636
MC1R
Q01726
Morphology
A"240"T actually 243
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
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)
Coding,
SNP
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Fontanesi L; Beretti F; Riggio V ; et al. (2009)
Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: ass[...]
GP00001353
Mc1r
Q01727
Morphology
c.801C>G p.Cys267Trp
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
MC1R
Capra hircus
goat - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
N
Bos grunniens
domestic yak - (species) D
Domesticated
Candidate Gene
Zhang MQ; Xu X; Luo SJ (2014)
The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).
GP00001354
Mc1r
Q01727
Morphology
p.Gln34* and p.Met73Leu and p.Arg142Pro - p.Met73Leu and p.Arg142Pro were only found in heterozygous and their association with phenotype is supposed but not sure N
Bos grunniens
domestic yak - (species)
Bos grunniens
domestic yak - (species) D
MC1R
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dürig N; Letko A; Lepori V ; et al. (2018)
Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.
GP00002301
MC1R
Q01726
Morphology
2-bp deletion in the coding sequence c.816_817delCT N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
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
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 (feathers)
Unknown,
Complex Change
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Minvielle F; Cecchi T; Passamonti P ; et al. (2009)
Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison.
1 Additional References
GP00000650
Mlph
Q91V27
Morphology
Large deletions and rearrangement with pseudogenization of MLPH and loss of two other genes
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
Melanophilin (MLPH)
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00002332
Mlph
Q91V27
Morphology
c.585delG p.L195LfsX123* N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Melanophilin (MLPH)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Hédan B; Cadieu E; Botherel N ; et al. (2019)
Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White[...]
GP00002244
MFSD12
Q6NUT3
Morphology
c.151C>T p.Arg51Cys N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
MFSD12
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Unknown,
Unknown
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Fontanesi L; Scotti E; Russo V (2012)
Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmen[...]
2 Additional References
GP00000656
Mitf
Q08874
Morphology
unknown but association with intronic variant
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Microphtalmia-associated transcription factor
Bos taurus
cattle - (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)
Coding,
Deletion
N
Coturnix japonica
Japanese quail - (species) D
Domesticated
Candidate Gene
Minvielle F; Bed'hom B; Coville JL ; et al. (2010)
The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with [...]
1 Additional References
GP00000660
Mitf
Q08874
Morphology
2bp deletion N
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Microphtalmia-associated transcription factor
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (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,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00002322
Mitf
Q08874
Morphology
c.519_523delGTGTC p.C174Sfs*20 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Dürig N; Jude R; Jagannathan V ; et al. (2017)
A novel MITF variant in a white American Standardbred foal.
GP00002323
Mitf
Q08874
Morphology
c.731G>A p.G244E
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Henkel J; Lafayette C; Brooks SA ; et al. (2019)
Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat [...]
GP00002324
Mitf
Q08874
Morphology
~63-kb deletion spanning exons 6-9 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Magdesian KG; Tanaka J; Bellone RR (2020)
A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse.
GP00002325
Mitf
Q08874
Morphology
8.7 kb deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Unknown,
Unknown
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Hofstetter S; Seefried F; Häfliger IM ; et al. (2019)
A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted c[...]
GP00002326
Mitf
Q08874
Morphology
unknown based SNP association
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Microphtalmia-associated transcription factor
Bos taurus
cattle - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
N
Bubalus bubalis
water buffalo - (species) D
Domesticated
Candidate Gene
Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015)
Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]
GP00002327
Mitf
Q08874
Morphology
c.328C>T p.R110* N
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Microphtalmia-associated transcription factor
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
N
Bubalus bubalis
water buffalo - (species) D
Domesticated
Candidate Gene
Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015)
Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]
GP00002328
Mitf
Q08874
Morphology
donor splice-site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of MITF N
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Microphtalmia-associated transcription factor
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
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
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
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
MYB-FL
Coloration (flower ; UV absorbance)
Coding,
Deletion
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Sheehan H; Moser M; Klahre U ; et al. (2016)
MYB-FL controls gain and loss of floral UV absorbance, a key trait affecting pollinator preference a[...]
GP00001590
MYB-FL
A0A0S3CVC7
Morphology
A 1-bp deletion in exon 3 causing a frameshift resulting in a truncated protein N
Petunia axillaris
(species)
Petunia exserta
(species) D
MYB-FL
Petunia exserta
(species)
Published - Accepted by Curator
MYB1
Coloration (flower)
Coding,
Deletion
N
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Chang SM; Lu Y; Rausher MD (2005)
Neutral evolution of the nonbinding region of the anthocyanin regulatory gene Ipmyb1 in Ipomoea.
GP00001458
myb1
Q4QS21
Morphology
2 deletions; 6-bp and 19-bp long; the larger produces a frameshift and a premature stop N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
MYB1
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
MYB1
Coloration (flowers; seeds; stems)
Coding,
Deletion
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Morita Y; Saitoh M; Hoshino A ; et al. (2006)
Isolation of cDNAs for R2R3-MYB, bHLH and WDR transcriptional regulators and identification of c and[...]
GP00002089
myb1
Q4QS21
Morphology
frameshift mutation caused by a 2 bp deletion N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
MYB1
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
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
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Boman IA; Klemetsdal G; Blichfeldt T ; et al. (2009)
A frameshift mutation in the coding region of the myostatin gene (MSTN) affects carcass conformation[...]
GP00000693
MSTN
O14793
Morphology
1bp deletion resulting in a premature stop codon at position 320 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Insertion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Boman IA; Våge DI (2009)
An insertion in the coding region of the myostatin (MSTN) gene affects carcass conformation and fatn[...]
GP00000694
MSTN
O14793
Morphology
1bp insertion resulting in premature stop codon at position 49 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
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
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Unknown
N
Bactrocera dorsalis
oriental fruit fly - (species) D
Intraspecific
Candidate Gene
Hsu JC; Feng HT; Wu WJ ; et al. (2012)
Truncated transcripts of nicotinic acetylcholine subunit gene Bdα6 are associated with spinosad resi[...]
GP00002650
CHRNA6
Q15825
Physiology
Mutation in Bdα6 intron 2 (A change to T) just before the truncated/mis-splicing region and in same location with a mutation previously reported in the Pxylα6 gene. Small deletions and insertions leading to premature stop codons in exon 7. N
Bactrocera dorsalis
oriental fruit fly - (species)
Bactrocera dorsalis
oriental fruit fly - (species) D
nAChR
Bactrocera dorsalis
oriental fruit fly - (species)
Published - Accepted by Curator
NUDT7
Meat color
Cis-regulatory,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Taniguchi M; Hayashi T; Nii M ; et al. (2010)
Fine mapping of quantitative trait loci for meat color on Sus scrofa chromosome 6: analysis of the s[...]
1 Additional References
GP00000741
Nudt7
Q99P30
Physiology
unknown
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
NUDT7
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Insertion
N
Pantherophis guttatus
(species) D
Intraspecific
Linkage Mapping
Saenko SV; Lamichhaney S; Martinez Barrio A ; et al. (2015)
Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 g[...]
GP00001619
OCA2
Q04671
Morphology
insertion of an LTR-retrotransposon (5832-bp) in the 11th intron resulting after splicing in an additional 397-bp fragment constituted of 3 new exons inserted between exons 11 and 12. Generates truncated protein with two stop codons N
Pantherophis guttatus
(species)
Pantherophis guttatus
(species) D
Oca2
Pantherophis guttatus
(species)
Published - Accepted by Curator
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Fragrance
Cis-regulatory,
Unknown
Petunia exserta
(species)
Interspecific
Linkage Mapping
Klahre U; Gurba A; Hermann K ; et al. (2011)
Pollinator choice in Petunia depends on two major genetic Loci for floral scent production.
GP00000750
ODO1
Q50EX6
Physiology
Not identified; but probably homologous to P. hybrida Mitchell x R27 promoter variation since these P. hybrida accessions are derived from a P. axillaris x P. integrifolia cross
Petunia axillaris
(species)
Petunia exserta
(species)
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Petunia exserta
(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 - 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
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)
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
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
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
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
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
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 D (PHYD)
Leaf morphology (increased petiole length)
Cotyledon morphology (reduced cotyledon area)
Coloration (anthocyanin accumulation in seedling stems)
Plant size (diminished effect of end-of-day pulse of far red light on hypocotyl elongation)
Plant architecture (decrease in number of rosette leaves at onset of flowering)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Aukerman MJ; Hirschfeld M; Wester L ; et al. (1997)
A deletion in the PHYD gene of the Arabidopsis Wassilewskija ecotype defines a role for phytochrome [...]
GP00000874
PHYD
P42497
Morphology
Morphology
Morphology
Physiology
Morphology
14bp deletion causing premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
phytochrome D (PHYD)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytoene synthase
Carotenoid content (seed)
Unknown,
Unknown
Zea mays
(species)
Domesticated
Linkage Mapping
Palaisa KA; Morgante M; Williams M ; et al. (2003)
Contrasting effects of selection on sequence diversity and linkage disequilibrium at two phytoene sy[...]
1 Additional References
GP00000875
PSY1
P49085
Physiology
Not identified
Zea mays
(species)
Zea mays
(species)
phytoene synthase
Zea mays
(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)
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)
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
PPAR-delta
Body size (height)
Unknown,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
N'Diaye A; Chen GK; Palmer CD ; et al. (2011)
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of[...]
1 Additional References
GP00000918
PPARD
Q03181
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
PPAR-delta
Homo sapiens
human - (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
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
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
PsbHLH = A
Coloration (flowers)
Coding,
SNP
N
Pisum sativum
pea - (species)
Domesticated
Linkage Mapping
Hellens RP; Moreau C; Lin-Wang K ; et al. (2010)
Identification of Mendel's white flower character.
GP00000935
BHLH
E3SXU4
Morphology
Splice site mutation: a simple G to A transition in a splice donor site that leads to a mis-spliced mRNA with a premature stop codon N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
PsbHLH = A
Pisum sativum
pea - (species)
Published - Accepted by Curator
PSMB7
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies)
Domesticated
Linkage Mapping
Clark LA; Tsai KL; Starr AN ; et al. (2011)
A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning[...]
GP00000936
Psmb7
P70195
Morphology
c.146T>G p.V6G
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
PSMB7
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PVX_084940
Xenobiotic resistance (multiresistance to antimalarial drugs)
Unknown,
Unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001487
PVX_084940
A5K0T0
Physiology
unknown
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species)
PVX_084940
Plasmodium vivax
malaria parasite P. vivax - (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
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
RAC1
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Borhan MH; Holub EB; Beynon JL ; et al. (2004)
The arabidopsis TIR-NB-LRR gene RAC1 confers resistance to Albugo candida (white rust) and is depend[...]
GP00000949
ARAC3
Q38912
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RAC1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Rc
Coloration (seed)
Coding,
SNP
N
Oryza glaberrima
African rice - (species)
Domesticated
Candidate Gene
Gross BL; Steffen FT; Olsen KM (2010)
The molecular basis of white pericarps in African domesticated rice: novel mutations at the Rc gene.
GP00000958
Rc
A7J5U6
Morphology
Premature stop codon in exon 7; Lys>* N
Oryza glaberrima
African rice - (species)
Oryza glaberrima
African rice - (species)
Rc
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
Rc
Coloration (seed)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Sweeney MT; Thomson MJ; Cho YG ; et al. (2007)
Global dissemination of a single mutation conferring white pericarp in rice.
GP00000959
Rc
A7J5U6
Morphology
14bp deletion N
Oryza rufipogon
(species)
Oryza sativa
rice - (species) D
Rc
Oryza sativa
rice - (species)
Published - Accepted by Curator
Rc
Coloration (seed)
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sweeney MT; Thomson MJ; Cho YG ; et al. (2007)
Global dissemination of a single mutation conferring white pericarp in rice.
2 Additional References
GP00000960
Rc
A7J5U6
Morphology
substitution; C->A in exon 6; introduces a premature stop codon (Cys>*) that truncates the protein before the bHLH domain N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Rc
Oryza sativa
rice - (species)
Published - Accepted by Curator
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)
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
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
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
RORB
gait (saltatorial locomotion)
Coding,
SNP
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Association Mapping
Carneiro M; Vieillard J; Andrade P ; et al. (2021)
A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits.
GP00002343
RORB
F1PET8
Behavior
a change from GT to AT in the 5’ donor site of intron 9 (chr1: 61,103,503bp). The mutation disrupts the normal splicing of RORB.
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
RORB
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
SCARB1
Carotenoid content
Coding,
SNP
N
Serinus canaria
common canary - (species) D
Intraspecific
Linkage Mapping
Toomey MB; Lopes RJ; Araújo PM ; et al. (2017)
High-density lipoprotein receptor SCARB1 is required for carotenoid coloration in birds.
GP00001681
Scarb1
Q61009
Morphology
T>G nucleotide substitution in the splice-donor site immediately downstream of exon 4 of the SCARB1 gene. This mutation results in abnormal splicing; with the most abundant transcript lacking exon 4. Isoform 4 of SCARB1; the most abundant transcript isoform in the white recessive canary; is predicted to lack 68 amino acids; a deficiency which disrupts SCARB1 protein function. N
Serinus canaria
common canary - (species)
Serinus canaria
common canary - (species) D
SCARB1
Serinus canaria
common canary - (species)
Published - Accepted by Curator
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
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,
Deletion
N
Sorghum bicolor
sorghum - (species) D
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001040
YAB2
Q10FZ7
Physiology
2.2kb deletion at the location of exons 2 and 3 N
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species) D
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Shattering1 - Sh1
Seed shattering
Coding,
Complex Change
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001041
YAB2
Q10FZ7
Physiology
two promoter variants at positions -1194 and -1185
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species)
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Shattering1 - Sh1
Seed shattering
Coding,
SNP
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001042
YAB2
Q10FZ7
Physiology
GT-to-GG splice-site variant
Sorghum virgatum
(species)
Sorghum bicolor
sorghum - (species)
Shattering1 - Sh1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
Shattering1 - ZmSh1-1
Seed shattering
Coding,
Complex Change
Zea mays
(species)
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001043
YAB2
Q10FZ7
Physiology
complex structural variations
Zea mays
(species)
Zea mays
(species)
Shattering1 - ZmSh1-1
Zea mays
(species)
Published - Accepted by Curator
Shattering1 - ZmSh1-5.1 + ZmSh1-5.2
Seed shattering
Coding,
Unknown
Zea mays
(species)
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
GP00001044
YAB2
Q10FZ7
Physiology
various structural variations
Zea mays
(species)
Zea mays
(species)
Shattering1 - ZmSh1-5.1 + ZmSh1-5.2
Zea mays
(species)
Published - Accepted by Curator
slc2a11b
Coloration (eyes)
Coding,
SNP
N
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Maclary ET; Phillips B; Wauer R ; et al. (2021)
Two Genomic Loci Control Three Eye Colors in the Domestic Pigeon (Columba livia).
2 Additional References
GP00002367
slc2a11b
F6P601
Morphology
"The premature stop codon in pearl-eyed pigeons falls in exon 3 of SLC2A11B, and is predicted to severely truncate the resulting protein from 504 to 57 amino acids."
"Based on genotypes at the two coding SNPs in the pearl eye haplotype, we found that gene expression in embryo head samples only shows changes associated with the pearl eye haplotype in SLC2A11B, and not in any other genes within 15 kb of the pearl eye haplotype, further supporting SLC2A11B as the primary candidate for the pearl eye phenotype (supplementary fig. S3A, Supplementary Material online). Embryo heads homozygous for the pearl allele show a significant reduction in SLC2A11B expression (P = 3.94 × 10−6, two-tailed t-test; supplementary fig. S3B, Supplementary Material online). Analysis of read distribution within the SLC2A11B gene shows a decrease in spliced reads specifically within the first three annotated exons, suggesting that alternative splicing or nonsense-mediated decay may be occurring (supplementary fig. S3D, Supplementary Material online)." N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
slc2a11b
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Mariat D; Taourit S; Guérin G (2003 Jan-Feb)
A mutation in the MATP gene causes the cream coat colour in the horse.
GP00001057
SLC45A2
Q9UMX9
Morphology
c.457G>A p.(Asp153Asn)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001058
SLC45A2
Q9UMX9
Morphology
G->T transversion at the splice acceptor site just preceding exon 4; causes in-frame skipping of exon 4
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
SLC45A2=MATP
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001059
SLC45A2
Q9UMX9
Morphology
1bp deletion at codon 36; resulting in frameshift and a premature stop codon in exon 1; the corresponding mRNA appears to be degraded by Nonsense-mediated mRNA decay. N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; fur)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Linkage Mapping
Du J; Fisher DE (2002)
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF.
GP00001060
SLC45A2
Q9UMX9
Morphology
N153D
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
SLC45A2=MATP
Mus musculus
house mouse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Graf J; Hodgson R; van Daal A (2005)
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation varia[...]
3 Additional References
GP00001061
SLC45A2
Q9UMX9
Morphology
Phe374Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC45A2=MATP
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (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 (feathers)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002294
SLC45A2
Q9UMX9
Morphology
c.1039C>A p.L347M N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002295
SLC45A2
Q9UMX9
Morphology
c.830A>G p.Y277C N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Winkler PA; Gornik KR; Ramsey DT ; et al. (2014)
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.
GP00002296
SLC45A2
Q9UMX9
Morphology
4081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (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
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
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
TaPHS1
Seed dormancy
Coding,
SNP
N
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Liu S; Sehgal SK; Li J ; et al. (2013)
Cloning and characterization of a critical regulator for preharvest sprouting in wheat.
GP00001104
PHS1
D2J2Y0
Physiology
GT-to-AT transition at the 5_ donor splice site (position +646) of intron 3 AND Premature Stop Codon (position +666) N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
TaPHS1
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
TAS1R1
Taste sensitivity (umami)
Coding,
Deletion
N
Ailurus fulgens
lesser panda - (species) D
Interspecific
Candidate Gene
Hu Y; Wu Q; Ma S ; et al. (2017)
Comparative genomics reveals convergent evolution between the bamboo-eating giant and red pandas.
GP00001415
Tas1r1
Q99PG6
Physiology
1bp deletion (deletion of a C) in the sixth exon; N
Ursus maritimus
polar bear - (species)
Ailurus fulgens
lesser panda - (species) D
TAS1R1
Ailurus fulgens
lesser panda - (species)
Published - Accepted by Curator
TAS1R1
Taste sensitivity (umami)
Coding,
Deletion
N
Ailuropoda melanoleuca
giant panda - (species) D
Interspecific
Candidate Gene
Li R; Fan W; Tian G ; et al. (2010)
The sequence and de novo assembly of the giant panda genome.
2 Additional References
GP00001416
Tas1r1
Q99PG6
Physiology
pseudogene due to three indel mutations in the third and sixth exons. The giant panda has one 2-bp insertion on the third exon and two deletions (6-bp and 4-bp) on the sixth exon, N
Ursus maritimus
polar bear - (species)
Ailuropoda melanoleuca
giant panda - (species) D
TAS1R1
Ailuropoda melanoleuca
giant panda - (species)
Published - Accepted by Curator
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
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
TMEM154
Pathogen resistance (lentivirus)
Coding,
SNP
Ovis aries
sheep - (species) D
Intraspecific
Association Mapping
Heaton MP; Clawson ML; Chitko-Mckown CG ; et al. (2012)
Reduced lentivirus susceptibility in sheep with TMEM154 mutations.
GP00002242
TMEM154
Q6P9G4
Physiology
Mutation at conserved position associated to resistance in homozygous state
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
TMEM154
Ovis aries
sheep - (species)
Published - Accepted by Curator
TMEM263
Body size (dwarfism)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Wu Z; Derks MFL; Dibbits B ; et al. (2018)
A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chi[...]
GP00002161
Physiology
g.53688583C>T c.433G>A p.Trp59∗ N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
TMEM263
Gallus gallus
chicken - (species)
Published - Accepted by Curator
TRPM1
Coloration (coat)
Cis-regulatory,
Insertion
Equus caballus
horse - (species) D
Intraspecific
Linkage Mapping
Bellone RR; Forsyth G; Leeb T ; et al. (2010)
Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and [...]
3 Additional References
GP00001140
TRPM1
Q7Z4N2
Morphology
a 1378 bp retroviral LTR insertion in intron 1 of TRPM1
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
TRPM1
Equus caballus
horse - (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
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 (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 (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
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,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Goldfinch AD (2002)
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
GP00001146
Tyrp1
P07147
Morphology
deletion of a proline residue in exon 5 (345delP)
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Goldfinch AD (2002)
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
GP00001147
Tyrp1
P07147
Morphology
premature stop codon in exon 5 (Q331ter) N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
tyrosinase-related protein 1 (TYRP1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (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
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Raadsma HW; Jonas E; Fleet MR ; et al. (2013)
QTL and association analysis for skin and fibre pigmentation in sheep provides evidence of a major c[...]
GP00002237
Tyrp1
P07147
Morphology
c.2240C>G p.A746V
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Linkage Mapping
Utzeri VJ; Ribani A; Fontanesi L (2014)
A premature stop codon in the TYRP1 gene is associated with brown coat colour in the European rabbit[...]
GP00002240
Tyrp1
P07147
Morphology
c.570G>A p.Trp190ter N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
tyrosinase-related protein 1 (TYRP1)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
UGT86 (Bm-UGT10286)
Coloration (cocoon)
Gene Loss,
Deletion
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Daimon T; Hirayama C; Kanai M ; et al. (2010)
The silkworm Green b locus encodes a quercetin 5-O-glucosyltransferase that produces green cocoons w[...]
1 Additional References
GP00001160
Bm-UGT10286
D6RUU6
Physiology
38kb gene deletion N
Bombyx
(genus)
Bombyx mori
domestic silkworm - (species) D
UGT86 (Bm-UGT10286)
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Vertnin (VRTN) [possibly a pseudo-replicate of other Pig entry]
Vertebrae number
Unknown,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Ren DR; Ren J; Ruan GF ; et al. (2012)
Mapping and fine mapping of quantitative trait loci for the number of vertebrae in a White Duroc × C[...]
GP00001166
Vrtn
Q3SYK4
Morphology
unknown
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Vertnin (VRTN) [possibly a pseudo-replicate of other Pig entry]
Sus scrofa domesticus
domestic pig - (subspecies)
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)
Unknown,
Unknown
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: [...]
GP00001193
VvmybA1
Q6L973
Morphology
Gret1 insertion polymorphism + R188S + Q213P
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species)
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)
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
VvMybA1 VvMybA2 VvMybA3 and VvMybA4
Coloration (fruit)
Gene Loss,
Complex Change
N
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Carbonell-Bejerano P; Royo C; Torres-Pérez R ; et al. (2017)
Catastrophic Unbalanced Genome Rearrangements Cause Somatic Loss of Berry Color in Grapevine.
GP00002098
VvmybA3
Q6L9M7
Morphology
catastrophic genome rearrangement: intrachromosomal and interchromosomal translocations and the deletion of 313 genes including the loss of the functional copy for the MYB transcription factors required for anthocyanin pigmentation in the berry skin N
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMybA1 VvMybA2 VvMybA3 and VvMybA4
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA2
Coloration (fruit)
2 Mutations:
Coding
N
Vitis vinifera
wine grape - (species) D
Domesticated
Linkage Mapping
Fournier-Level A; Le Cunff L; Gomez C ; et al. (2009)
Quantitative genetic bases of anthocyanin variation in grape (Vitis vinifera L. ssp. sativa) berry: [...]
GP00001195
VvmybA2
Q6L9M8
Morphology
2 mutations
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA2
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
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
WDR1
Coloration (flowers; seeds; stems)
Coding,
Deletion
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Morita Y; Saitoh M; Hoshino A ; et al. (2006)
Isolation of cDNAs for R2R3-MYB, bHLH and WDR transcriptional regulators and identification of c and[...]
GP00002090
InWDR1
Q1JUZ7
Morphology
frameshift mutation caused by a 7 bp insertion in the gene encoding a WDR transcriptional regulator N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
WDR1
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
WDR1
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Domesticated
Candidate Gene
de Vetten N; Quattrocchio F; Mol J ; et al. (1997)
The an11 locus controlling flower pigmentation in petunia encodes a novel WD-repeat protein conserve[...]
GP00002093
InWDR1
Q1JUZ7
Morphology
insertion of a 300-bp dTph1 transposon in the WDR gene in the first WD-repeat (321-bp downstream of the transcription start site) N
Petunia axillaris
(species)
Petunia axillaris
(species) D
WDR1
Petunia axillaris
(species)
Published - Accepted by Curator
WIF1
Ear size
Coding,
SNP
Sus scrofa
pig - (species) D
Domesticated
Candidate Gene
Liang J; Zhang Y; Wang L ; et al. (2019)
Molecular cloning of WIF1 and HMGA2 reveals ear-preferential expression while uncovering a missense [...]
GP00002255
WIF1
Q9Y5W5
Morphology
p.Phe236Leu
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
WIF1
Sus scrofa
pig - (species)
Published - Accepted by Curator
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
WRR4
Pathogen resistance
Coding,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Borhan MH; Gunn N; Cooper A ; et al. (2008)
WRR4 encodes a TIR-NB-LRR protein that confers broad-spectrum white rust resistance in Arabidopsis t[...]
GP00001215
ADR2
Q9C7X0
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
WRR4
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator