ABCB1
Plant size (dwarfism)
Coding,
SNP
N
Sorghum bicolor
sorghum - (species)
Domesticated
Candidate Gene
Multani DS; Briggs SP; Chamberlin MA ; et al. (2003)
Loss of an MDR transporter in compact stalks of maize br2 and sorghum dw3 mutants.
GP00000007
ABCB1
Q9ZR72
Morphology
Frame-shift mutation resulting in truncated protein N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
ABCB1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
ABCC11
Apocrine secretion (ear wax type ; axillary odor)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Yoshiura K; Kinoshita A; Ishida T ; et al. (2006)
A SNP in the ABCC11 gene is the determinant of human earwax type.
1 Additional References
GP00000010
ABCC11
Q96J66
Physiology
3 n.t. changes; including 1 a.a. polymorphism considered best candidate
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABCC11
Homo sapiens
human - (species)
Published - Accepted by Curator
ABCG2
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Cohen-Zinder M; Seroussi E; Larkin DM ; et al. (2005)
Identification of a missense mutation in the bovine ABCG2 gene with a major effect on the QTL on chr[...]
1 Additional References
GP00000015
Abcg2
Q7TMS5
Physiology
Tyr581Ser
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
ABCG2
Bos taurus
cattle - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homininae
(subfamily)
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000017
ABO
P16442
Physiology
Gly268 (group A) <-> Ala (group B)
Homininae
(subfamily)
Homininae
(subfamily)
ABO histo blood group glycosyltransferase
Homininae
(subfamily)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homininae
(subfamily)
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000018
ABO
P16442
Physiology
Leu266 (group A) <-> Met (group B)
Homininae
(subfamily)
Homininae
(subfamily)
ABO histo blood group glycosyltransferase
Homininae
(subfamily)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Yamamoto F; McNeill PD; Yamamoto M ; et al. (1993)
Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele.
1 Additional References
GP00000020
ABO
P16442
Physiology
Arg176+Gly268 (group A) <-> Gly176+Arg268 (group O03 = weak AB allele rather than complete loss-of-function)
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005)
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
1 Additional References
GP00000022
ABO
P16442
Physiology
1bp change resulting in stop codon N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Weill M; Malcolm C; Chandre F ; et al. (2004)
The unique mutation in ace-1 giving high insecticide resistance is easily detectable in mosquito vec[...]
GP00000026
Ace
P07140
Physiology
G119S
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
Acetylcholinesterase (Ace-1)
Anopheles albimanus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000027
Ace
P07140
Physiology
G119S
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000028
Ace
P07140
Physiology
G119S
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000029
Ace
P07140
Physiology
G119S
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
GP00000030
Ace
P07140
Physiology
331W
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
Acetylcholinesterase (Ace-1)
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex vishnui
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
GP00000031
Ace
P07140
Physiology
G119S
Culex vishnui
(species)
Culex vishnui
(species) D
Acetylcholinesterase (Ace-1)
Culex vishnui
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Fournier D; Bride JM; Hoffmann F ; et al. (1992)
Acetylcholinesterase. Two types of modifications confer resistance to insecticide.
1 Additional References
GP00000032
Ace
P07140
Physiology
Phe368 -> Tyr
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
GP00000033
Ace
P07140
Physiology
Ile/Val199 -> Thr
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
GP00000034
Ace
P07140
Physiology
Gly303 -> Ala
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
GP00000035
Ace
P07140
Physiology
Phe115 -> Ser
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Shang Q; Pan Y; Fang K ; et al. (2014)
Extensive Ace2 duplication and multiple mutations on Ace1 and Ace2 are related with high level of or[...]
GP00000036
Ace
P07140
Physiology
Duplications; A302S and S431F
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Hejazi MJ; Hawkes NJ ; et al. (2002)
Resistance-associated point mutations of organophosphate insensitive acetylcholinesterase, in the ol[...]
GP00000037
Ace
P07140
Physiology
I214V + G488S
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00000039
Ace
P07140
Physiology
Ser->Gly at position 238 of the Torpedo AChE
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000040
Ace
P07140
Physiology
Gly365Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000041
Ace
P07140
Physiology
Gly262Val
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000042
Ace
P07140
Physiology
Val180Leu
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000043
Ace
P07140
Physiology
Gly262Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000044
Ace
P07140
Physiology
Phe327Tyr
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera dorsalis
oriental fruit fly - (species) D
Experimental Evolution
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
I214V + G488S (+ possibly Q643R)
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
AEP2
Hybrid Incompatibility (F2 sterility)
Coding,
SNP
Saccharomyces bayanus
(species)
Domesticated
Linkage Mapping
Lee HY; Chou JY; Cheong L ; et al. (2008)
Incompatibility of nuclear and mitochondrial genomes causes hybrid sterility between two yeast speci[...]
GP00000051
AEP2
P22136
Physiology
Multiple non-synonymous changes
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces bayanus
(species)
AEP2
Saccharomyces bayanus
(species)
Published - Accepted by Curator
AGAMOUS-Like6
Plant architecture
Inflorescence architecture
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Huang X; Effgen S; Meyer RC ; et al. (2012)
Epistatic natural allelic variation reveals a function of AGAMOUS-LIKE6 in axillary bud formation in[...]
2 Additional References
GP00000053
AGL6
P29386
Morphology
Morphology
Pro201Leu
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AGAMOUS-Like6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Coding,
SNP
N
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Candidate Gene
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00000056
Asip
Q03288
Morphology
Premature stop codon at residue 65 N
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
Agouti
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies)
Domesticated
Candidate Gene
Berryere TG; Kerns JA; Barsh GS ; et al. (2005)
Association of an Agouti allele with fawn or sable coat color in domestic dogs.
GP00000060
Asip
Q03288
Morphology
A82S and R83H in Linkage Disequilibrium
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
Agouti
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies)
Domesticated
Candidate Gene
Berryere TG; Kerns JA; Barsh GS ; et al. (2005)
Association of an Agouti allele with fawn or sable coat color in domestic dogs.
GP00000061
Asip
Q03288
Morphology
R96C
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
Agouti
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
Catopuma temminckii
Asiatic golden cat - (species)
Intraspecific
Candidate Gene
Schneider A; David VA; Johnson WE ; et al. (2012)
How the leopard hides its spots: ASIP mutations and melanism in wild cats.
GP00000066
Asip
Q03288
Morphology
C128W
Catopuma temminckii
Asiatic golden cat - (species)
Catopuma temminckii
Asiatic golden cat - (species)
Agouti
Catopuma temminckii
Asiatic golden cat - (species)
Published - Accepted by Curator
AIM22
F2 lethality
Coding,
SNP
Saccharomyces bayanus
(species)
Interspecific
Linkage Mapping
Chou JY; Hung YS; Lin KH ; et al. (2010)
Multiple molecular mechanisms cause reproductive isolation between three yeast species.
GP00000073
AIM22
P47051
Physiology
Multiple non-synonymous changes
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces bayanus
(species)
AIM22
Saccharomyces bayanus
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Choudhary M; Laurie CC (1991)
Use of in vitro mutagenesis to analyze the molecular basis of the difference in Adh expression assoc[...]
GP00000074
Adh
P00334
Physiology
Thr192Lys. Historical note : this discovery is actually based on progressive mapping started before 1980; and on early population genetics work by Kreitman 1983 (PMID: 6410283).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (ADH1B)
Xenobiotic resistance (alcohol)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Li H; Mukherjee N; Soundararajan U ; et al. (2007)
Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and [...]
GP00000077
ADH1B
P00325
Physiology
Arg47His; the derived allele results in 100-fold enzymatic rate increase and shows signs of positive selection in correlation with history of rice domestication
Homo sapiens
human - (species)
Homo sapiens
human - (species)
alcohol dehydrogenase (ADH1B)
Homo sapiens
human - (species)
Published - Accepted by Curator
Alk / Starch Synthase II
Grain cooking texture
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Umemoto T; Yano M; Satoh H ; et al. (2002)
Mapping of a gene responsible for the difference in amylopectin structure between japonica-type and [...]
1 Additional References
GP00000078
SSII-3
Q0DDE3
Physiology
4 epistatic amino-acid substitutions
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Alk / Starch Synthase II
Oryza sativa
rice - (species)
Published - Accepted by Curator
AMN1
Cell separation
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Yvert G; Brem RB; Whittle J ; et al. (2003)
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors.
1 Additional References
GP00000082
AMN1
P38285
Physiology
D368V
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
AMN1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
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,
SNP
N
Petunia axillaris
(species)
Intraspecific
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)
Intraspecific
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
APOE (apolipoprotein E)
Aging
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Joshi PK; Fischer K; Schraut KE ; et al. (2016)
Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.
1 Additional References
GP00000099
APOE
P02649
Physiology
Cys112Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species)
APOE (apolipoprotein E)
Homo sapiens
human - (species)
Published - Accepted by Curator
APSR
Sulfate content (shoot)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Loudet O; Saliba-Colombani V; Camilleri C ; et al. (2007)
Natural variation for sulfate content in Arabidopsis thaliana is highly controlled by APR2.
GP00000100
APR2
P92981
Physiology
A399E N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
APSR
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
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[...]
GP00000101
KITLG
P21583
Morphology
Ala193Asp ; missense mutation at position 654 (nucleotide change not reported) N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Kit ligand
Bos taurus
cattle - (species)
Published - Accepted by Curator
ARHGAP15
Pathogen resistance (Trypanosoma)
Coding,
SNP
Bos taurus
cattle - (species)
Intraspecific
Linkage Mapping
Noyes H; Brass A; Obara I ; et al. (2011)
Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypa[...]
GP00000103
Arhgap15
Q811M1
Physiology
H282P
Bos
oxen, cattle - (genus)
Bos taurus
cattle - (species)
ARHGAP15
Bos taurus
cattle - (species)
Published - Accepted by Curator
ASP1
Acetic acid production
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Marullo P; Aigle M; Bely M ; et al. (2007)
Single QTL mapping and nucleotide-level resolution of a physiologic trait in wine Saccharomyces cere[...]
GP00000104
APS1
P35181
Physiology
Asp142His
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
ASP1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000117
GA20OX1
Q39110
Morphology
W46* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000118
GA20OX1
Q39110
Morphology
W271* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000119
GA20OX1
Q39110
Morphology
E312* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000120
GA20OX1
Q39110
Morphology
G919A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000121
GA20OX1
Q39110
Morphology
Morphology
C940G
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000122
GA20OX1
Q39110
Morphology
C1334G
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000123
GA20OX1
Q39110
Morphology
Splice Site mutation G742A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ATR13
Pathogenicity
Coding,
SNP
Hyaloperonospora parasitica
(species)
Intraspecific
Linkage Mapping
Allen RL; Bittner-Eddy PD; Grenville-Briggs LJ ; et al. (2004)
Host-parasite coevolutionary conflict between Arabidopsis and downy mildew.
GP00000128
Atr13
Q5G7K8
Physiology
Multiple coding changes
Hyaloperonospora parasitica
(species)
Hyaloperonospora parasitica
(species)
ATR13
Hyaloperonospora parasitica
(species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Juwattanasomran R; Somta P; Chankaew S ; et al. (2011)
A SNP in GmBADH2 gene associates with fragrance in vegetable soybean variety "Kaori" and SNAP marker[...]
1 Additional References
GP00000133
BADH2
Q84LK3
Physiology
1 amino-acid substitution in conserved enzymatic domain
Glycine max
soybean - (species)
Glycine max
soybean - (species)
BADH2
Glycine max
soybean - (species)
Published - Accepted by Curator
BCMA
Glucosinolate content
Herbivore resistance
3 Mutations:
Boechera stricta
(species)
Intraspecific
Linkage Mapping
Prasad KV; Song BH; Olson-Manning C ; et al. (2012)
A gain-of-function polymorphism controlling complex traits and fitness in nature.
1 Additional References
GP00000136
J9QWI9
Physiology
Physiology
Duplication of the BCMA3 gene - the BCMA1 gene is present only in the Montana genotype
Boechera stricta
(species)
Boechera stricta
(species)
BCMA
Boechera stricta
(species)
Published - Accepted by Curator
BCMO1
Carotenoid content
2 Mutations:
Cis-regulatory
SNP
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Le Bihan-Duval E; Nadaf J; Berri C ; et al. (2011)
Detection of a Cis [corrected] eQTL controlling BCMO1 gene expression leads to the identification of[...]
GP00000137
BCO1
Q9HAY6
Morphology; Physiology
A to G at SNP1 (−678 bp upstream of ATG)
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
BCMO1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content
Coding,
SNP
N
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Berry SD; Davis SR; Beattie EM ; et al. (2009)
Mutation in bovine beta-carotene oxygenase 2 affects milk color.
GP00000138
BCO2
Q9BYV7
Physiology
Substitution creating premature Stop (codon 79) N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
BCO2 = beta-carotene oxygenase 2
Bos taurus
cattle - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content
Coding,
SNP
N
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
Våge DI; Boman IA (2010)
A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumula[...]
GP00000140
BCO2
Q9BYV7
Physiology
Substitution creating premature Stop (codon 66) N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
BCO2 = beta-carotene oxygenase 2
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP receptor IB (BMPRIB)
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Mulsant P; Lecerf F; Fabre S ; et al. (2001)
Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Bo[...]
1 Additional References
GP00000146
BMPR-IB
Q9BDI4
Physiology
Q259R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
BMP receptor IB (BMPRIB)
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Increased ovulation rate; Heterozygote shows phenotype; homozygote results in ovarian failure
Coding,
SNP
N
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00000147
Bmp15
Q9Z0L4
Physiology
Q23*; CAG - > TAG N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Ferility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00000148
Bmp15
Q9Z0L4
Physiology
V31D; in a very conserved region across other animals
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Ferility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000149
Bmp15
Q9Z0L4
Physiology
T317I
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Ferility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000150
Bmp15
Q9Z0L4
Physiology
N337H
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP3 or PRKG2
Cranio-facial morphology
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Schoenebeck JJ; Hutchinson SA; Byers A ; et al. (2012)
Variation of BMP3 contributes to dog breed skull diversity.
1 Additional References
GP00000152
Bmp3
Q8BHE5
Morphology
F452L in BMP3 ; this missense mutation is in a conserved position and correlates well with small breeds. However; the functional data (zebrafish BMP3 morpholino knockdown) proposed in this article is inconsistent with the mice BMP3 null-mutation (the auth
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
BMP3 or PRKG2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
BRANCHED1a (BRC1a)
Plant architecture
Inflorescence architecture
Coding,
SNP
Solanum
(genus) D
Intergeneric or Higher
Candidate Gene
Nicolas M; Rodríguez-Buey ML; Franco-Zorrilla JM ; et al. (2015)
A Recently Evolved Alternative Splice Site in the BRANCHED1a Gene Controls Potato Plant Architecture[...]
GP00000156
BRC1A
F6KB94
Morphology
Morphology
Evolution of an alternative splice site (G>A) that unlocks a short isoform
Capsicum annuum
(species)
Solanum
(genus) D
BRANCHED1a (BRC1a)
Solanum
(genus)
Published - Accepted by Curator
Brevis radix (BRX)
Root size (shorter)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Mouchel CF; Briggs GC; Hardtke CS (2004)
Natural genetic variation in Arabidopsis identifies BREVIS RADIX, a novel regulator of cell prolifer[...]
GP00000157
BRX
Q17TI5
Morphology
premature stop codon in exon 4; TGG>TGA; truncated protein missing approximately two-thirds of the C terminus N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
BTR1- Cadherin-like protein
Xenobiotic resistance (insecticide)
Coding,
SNP
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Zhang H; Tian W; Zhao J ; et al. (2012)
Diverse genetic basis of field-evolved resistance to Bt cotton in cotton bollworm from China.
1 Additional References
GP00000165
BtR
Q19KJ3
Physiology
E1266L; R1268E; and E1270V
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
BTR1- Cadherin-like protein
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
BUL2
Telomere length
Aging
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Kwan EX; Foss E; Kruglyak L ; et al. (2011)
Natural polymorphism in BUL2 links cellular amino acid availability with chronological aging and tel[...]
GP00000166
BUL2
Q03758
Physiology
Physiology
Leu883Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
BUL2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Callipyge (CLPG1)
Muscular mass (with paternal effect)
Cis-regulatory,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Takeda H; Caiment F; Smit M ; et al. (2006)
The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.
1 Additional References
GP00000168
DIO3
Q6DN07
Morphology
1bp change in the regulatory region of the DLK1-GTL2 imprinted gene cluster
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
Callipyge (CLPG1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
catechol-O-methyltransferase (COMT)
Pain sensitivity
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Nackley AG; Shabalina SA; Tchivileva IE ; et al. (2006)
Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary[...]
GP00000171
COMT
P21964
Behavior
G/C - The synonymous mutation(s) affect mRNA stability and loop structures
Homo sapiens
human - (species)
Homo sapiens
human - (species)
catechol-O-methyltransferase (COMT)
Homo sapiens
human - (species)
Published - Accepted by Curator
Cauliflower (BoCAL)
Inflorescence morphology
Coding,
SNP
N
Brassica oleracea var. botrytis
(varietas) D
Domesticated
Candidate Gene
Kempin SA; Savidge B; Yanofsky MF (1995)
Molecular basis of the cauliflower phenotype in Arabidopsis.
1 Additional References
GP00000173
CAL
Q39081
Morphology
GAG N
Brassica oleracea
wild cabbage - (species)
Brassica oleracea var. botrytis
(varietas) D
Cauliflower (BoCAL)
Brassica oleracea var. botrytis
(varietas)
Published - Accepted by Curator
CENTRORADIALIS (HvCEN)
Flowering time
Seasonal growth
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Comadran J; Kilian B; Russell J ; et al. (2012)
Natural variation in a homolog of Antirrhinum CENTRORADIALIS contributed to spring growth habit and [...]
GP00000179
CEN
Q9ZNV5
Physiology
Physiology
P135A
Hordeum vulgare
(species)
Hordeum vulgare
(species)
CENTRORADIALIS (HvCEN)
Hordeum vulgare
(species)
Published - Accepted by Curator
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[...]
1 Additional References
GP00000183
CHRNA1
P02708
Physiology
Trp187Arg
Carnivora
carnivores - (order)
Erinaceus concolor
southern white-breasted hedgehog - (species) D
Erinaceus europaeus
western European hedgehog - (species) D
CHRNA1
Erinaceus concolor
southern white-breasted hedgehog - (species)
Erinaceus europaeus
western European hedgehog - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
2 Mutations:
Coding
SNP
Mellivora capensis
ratel - (species) D
Intergeneric or Higher
Candidate Gene
Drabeck DH; Dean AM; Jansa SA (2015)
Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]
GP00000184
CHRNA1
P02708
Physiology
Trp187Arg + Phe189Leu
Carnivora
carnivores - (order)
Mellivora capensis
ratel - (species) D
CHRNA1
Mellivora capensis
ratel - (species)
Published - Accepted by Curator
CmACS-7
Flower sex determination (male organs)
Coding,
SNP
Cucumis melo
muskmelon - (species)
Domesticated
Linkage Mapping
Boualem A; Fergany M; Fernandez R ; et al. (2008)
A conserved mutation in an ethylene biosynthesis enzyme leads to andromonoecy in melons.
GP00000187
ACS7
Q9STR4
Physiology
A57V
Cucumis melo
muskmelon - (species)
Cucumis melo
muskmelon - (species)
CmACS-7
Cucumis melo
muskmelon - (species)
Published - Accepted by Curator
Couch potato
Diapause
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Schmidt PS; Zhu CT; Das J ; et al. (2008)
An amino acid polymorphism in the couch potato gene forms the basis for climatic adaptation in Droso[...]
GP00000191
cpo
Q01617
Physiology
Ile462Lys
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Couch potato
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Cryptochrome 2 (CRY2) EDI allele
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
El-Din El-Assal S; Alonso-Blanco C; Peeters AJ ; et al. (2001)
A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2.
GP00000192
CRY2
Q96524
Physiology
V367M
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Cryptochrome 2 (CRY2) EDI allele
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
CYC8
Salt tolerance (experimental evolution)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
GP00000195
CYC8
P14922
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
CYC8
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
CYP1A2
Enzymatic activity
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Murayama N; Soyama A; Saito Y ; et al. (2004)
Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring v[...]
GP00000199
CYP1A2
P05177
Physiology
F186L
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP1A2
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP2C9
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
GP00000200
CYP2C9
P11712
Physiology
I359L
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP2C9
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP4F2
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
GP00000203
CYP4F2
P78329
Physiology
V433M
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP4F2
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP6AB3
Xenobiotic resistance (imperatorin)
Coding,
SNP
Depressaria pastinacella
(species)
Intraspecific
Candidate Gene
Mao W; Rupasinghe SG; Zangerl AR ; et al. (2007)
Allelic variation in the Depressaria pastinacella CYP6AB3 protein enhances metabolism of plant allel[...]
1 Additional References
GP00000204
CYP6AB3
Q7YZS3
Physiology
Ala92Val and potentiallly; 4 other a.a. substitutions
Depressaria pastinacella
(species)
Depressaria pastinacella
(species)
CYP6AB3
Depressaria pastinacella
(species)
Published - Accepted by Curator
CYP6B1
Xenobiotic resistance
Host plant specialization
Coding,
SNP
Papilio polyxenes
black swallowtail - (species)
Interspecific
Candidate Gene
Li W; Schuler MA; Berenbaum MR (2003)
Diversification of furanocoumarin-metabolizing cytochrome P450 monooxygenases in two papilionids: Sp[...]
GP00000205
CYP6B1
Q04552
Physiology
Physiology
Ile484Phe and other a.a. substitutions
Nymphalidae
brushfoots - (family)
Papilio polyxenes
black swallowtail - (species)
CYP6B1
Papilio polyxenes
black swallowtail - (species)
Published - Accepted by Curator
CYP6B4
Xenobiotic resistance
Host plant specialization
Coding,
SNP
Papilio glaucus
eastern tiger swallowtail - (species)
Interspecific
Candidate Gene
Mao W; Schuler MA; Berenbaum MR (2007)
Cytochrome P450s in Papilio multicaudatus and the transition from oligophagy to polyphagy in the Pap[...]
GP00000206
CYP6B4
Q27902
Physiology
Physiology
Lys484Ser and other a.a. substitutions
Nymphalidae
brushfoots - (family)
Papilio glaucus
eastern tiger swallowtail - (species)
CYP6B4
Papilio glaucus
eastern tiger swallowtail - (species)
Published - Accepted by Curator
diacylglycerol acyltransferase 1 (DGAT1)
Milk fat content
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Grisart B; Coppieters W; Farnir F ; et al. (2002)
Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the [...]
1 Additional References
GP00000222
Dgat1
Q9Z2A7
Physiology
K232A
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
diacylglycerol acyltransferase 1 (DGAT1)
Bos taurus
cattle - (species)
Published - Accepted by Curator
dihydroflavonol reductase (DFR)
Coloration (flowers)
Coding,
SNP
Iochroma cyaneum
(species)
Interspecific
Linkage Mapping
Smith SD; Rausher MD (2011)
Gene loss and parallel evolution contribute to species difference in flower color.
GP00000225
DFRA
P51102
Morphology
12 candidate a.a. substitution in cluding one at a residue known to influence substrate specificity
Iochroma cyaneum
(species)
Iochroma cyaneum
(species)
dihydroflavonol reductase (DFR)
Iochroma cyaneum
(species)
Published - Accepted by Curator
Diptericin
Pathogen resistance (bacteria)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Unckless RL; Rottschaefer SM; Lazzaro BP (2015)
The complex contributions of genetics and nutrition to immunity in Drosophila melanogaster.
1 Additional References
GP00000227
DptA
P24492
Physiology
Ser>Arg (AGC>AGA)
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Diptericin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Diptericin
Pathogen resistance (bacteria)
Coding,
SNP
Drosophila simulans
(species)
Intraspecific
Candidate Gene
Unckless RL; Howick VM; Lazzaro BP (2016)
Convergent Balancing Selection on an Antimicrobial Peptide in Drosophila.
1 Additional References
GP00000228
DptA
P24492
Physiology
Ser>Arg (AGC>AGG)
Drosophila simulans
(species)
Drosophila simulans
(species)
Diptericin
Drosophila simulans
(species)
Published - Accepted by Curator
DMRT3
Gait (ability to pace)
Coding,
SNP
N
Equus caballus
horse - (species)
Domesticated
Linkage Mapping
Andersson LS; Larhammar M; Memic F ; et al. (2012)
Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice.
GP00000230
DMRT3
F6W2R2
Behavior
Premature stop codon (Ser301Stop) resulting in truncated protein: a single base change at nucleotide position chr23:22999655 causing a premature stop at codon 301 in DMRT3 (DMRT3_Ser301STOP). The allele is expected to encode a truncated protein lacking 1 N
Equus caballus
horse - (species)
Equus caballus
horse - (species)
DMRT3
Equus caballus
horse - (species)
Published - Accepted by Curator
DTH2
Flowering time
Coding,
SNP
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Wu W; Zheng XM; Lu G ; et al. (2013)
Association of functional nucleotide polymorphisms at DTH2 with the northward expansion of rice cult[...]
GP00000239
DTH2
O82118
Physiology
Arg9Gly (A/G) + Tyr319Asp (T/G)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
DTH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
Duffy
Pathogen resistance (Plasmodium; malaria parasite) (malaria)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Tournamille C; Colin Y; Cartron JP ; et al. (1995)
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-n[...]
GP00000240
ACKR1
Q16570
Physiology
T to C substitution in 5' region at pos -46
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Duffy
Homo sapiens
human - (species)
Published - Accepted by Curator
EARLY FLOWERING 3/ EARLY MATURITY 8
Flowering time
Coding,
SNP
N
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Faure S; Turner AS; Gruszka D ; et al. (2012)
Mutation at the circadian clock gene EARLY MATURITY 8 adapts domesticated barley (Hordeum vulgare) t[...]
3 Additional References
GP00000245
ELF3
O82804
Physiology
Premature stop codon; C-to-T point mutation in exon 2 N
Hordeum vulgare
(species)
Hordeum vulgare
(species)
EARLY FLOWERING 3/ EARLY MATURITY 8
Hordeum vulgare
(species)
Published - Accepted by Curator
ebony (e)
Coloration (posterior abdomen)
Cis-regulatory,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Rebeiz M; Pool JE; Kassner VA ; et al. (2009)
Stepwise modification of a modular enhancer underlies adaptation in a Drosophila population.
GP00000253
e
O76858
Morphology
at least 5 substitutions within a 2.4kb enhancer that drives abdominal expression
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony (e)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
EDAR
Ear shape
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Adhikari K; Reales G; Smith AJ ; et al. (2015)
A genome-wide association study identifies multiple loci for variation in human ear morphology.
2 Additional References
GP00000255
EDAR
Q9UNE0
Morphology
Val370Ala
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EDAR
Homo sapiens
human - (species)
Published - Accepted by Curator
EDAR
Hair thickness
Eccrine gland density
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Fujimoto A; Kimura R; Ohashi J ; et al. (2008)
A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickne[...]
GP00000256
EDAR
Q9UNE0
Morphology
Morphology
Val370Ala; functionally validated in mouse
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EDAR
Homo sapiens
human - (species)
Published - Accepted by Curator
EDAR
Tooth shape
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kimura R; Yamaguchi T; Takeda M ; et al. (2009)
A common variation in EDAR is a genetic determinant of shovel-shaped incisors.
1 Additional References
GP00000257
EDAR
Q9UNE0
Morphology
Val370Ala
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EDAR
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
GP00000261
EGLN1
Q9GZT9
Physiology
possibly D4E
Homo sapiens
human - (species)
Homo sapiens
human - (species)
EGLN1
Homo sapiens
human - (species)
Published - Accepted by Curator
Ehd1 (Response regulator)
Flowering time
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Doi K; Izawa T; Fuse T ; et al. (2004)
Ehd1, a B-type response regulator in rice, confers short-day promotion of flowering and controls FT-[...]
GP00000263
EHD1
Q9H4M9
Physiology
G218R in highly conserved region in GARP domain
Oryza glaberrima
African rice - (species)
Oryza sativa
rice - (species)
Ehd1 (Response regulator)
Oryza sativa
rice - (species)
Published - Accepted by Curator
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
GP00000267
END3
P39013
Physiology
Physiology
S258N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000268
END3
P39013
Physiology
Physiology
D268N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Endothelin receptor B
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Metallinos DL; Bowling AT; Rine J (1998)
A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome:[...]
1 Additional References
GP00000269
Ednrb
P48302
Morphology
Iso118Lys
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)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
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[...]
2 Additional References
GP00000270
Ednrb
P48302
Morphology
Arg332His
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
Endothelin receptor B
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
eosinophil-derived neurotoxin (EDN)
Increase in antiviral ribonuclease activity
Coding,
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Zhang J; Rosenberg HF (2002)
Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates.
GP00000272
RNASE2
P10153
Physiology
Arg64Ser
Primates
(order)
Catarrhini
(parvorder)
eosinophil-derived neurotoxin (EDN)
Catarrhini
(parvorder)
Published - Accepted by Curator
eosinophil-derived neurotoxin (EDN)
Increase in antiviral ribonuclease activity
Coding,
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Zhang J; Rosenberg HF (2002)
Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates.
GP00000273
RNASE2
P10153
Physiology
Thr132Arg
Primates
(order)
Catarrhini
(parvorder)
eosinophil-derived neurotoxin (EDN)
Catarrhini
(parvorder)
Published - Accepted by Curator
EphB2
Feathers (crest morphology)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Shapiro MD; Kronenberg Z; Li C ; et al. (2013)
Genomic diversity and evolution of the head crest in the rock pigeon.
1 Additional References
GP00000275
EPHB2
P28693
Morphology
Arg758Cys (C>T)
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
EphB2
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
EphB2
Feathers (crest morphology)
Coding,
SNP
Streptopelia risoria
ringneck dove - (species) D
Domesticated
Candidate Gene
Vickrey AI; Domyan ET; Horvath MP ; et al. (2015)
Convergent Evolution of Head Crests in Two Domesticated Columbids Is Associated with Different Misse[...]
1 Additional References
GP00000276
EPHB2
P28693
Morphology
Gly636Arg (G>A)
Streptopelia risoria
ringneck dove - (species)
Streptopelia risoria
ringneck dove - (species) D
EphB2
Streptopelia risoria
ringneck dove - (species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
2 Additional References
GP00000281
ERG11
P10613
Physiology
Y132H
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000282
ERG11
P10613
Physiology
S405F
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000283
ERG11
P10613
Physiology
G464S
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000284
ERG11
P10613
Physiology
R467K
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000286
ERG3
P32353
Physiology
11 unique mutations within 14 lines in ERG3; Trp205Stop evolved multiple times N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG7
Xenobiotic resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000289
ERG7
P38604
Physiology
Phe699Leu
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
ERG7
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Newcomb RD; Campbell PM; Ollis DL ; et al. (1997)
A single amino acid substitution converts a carboxylesterase to an organophosphorus hydrolase and co[...]
GP00000294
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Jackson CJ; Liu JW; Carr PD ; et al. (2013)
Structure and function of an insect α-carboxylesterase (αEsterase7) associated with insecticide resi[...]
GP00000295
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species)
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000296
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species)
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000297
LcaE7
Q25252
Physiology
Trp251Ser
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000298
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E7 = E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Claudianos C; Russell RJ; Oakeshott JG (1999)
The same amino acid substitution in orthologous esterases confers organophosphate resistance on the [...]
GP00000299
LcaE7
Q25252
Physiology
Gly137Asp
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
esterase isozyme E7 = E3
Musca domestica
house fly - (species)
Published - Accepted by Curator
FAAH
Anxiety (fear reduction)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Dincheva I; Drysdale AT; Hartley CA ; et al. (2015)
FAAH genetic variation enhances fronto-amygdala function in mouse and human.
GP00000301
Faah
P97612
Behavior
Pro129Thr (C385A; common variant rs324420)
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FAAH
Homo sapiens
human - (species)
Published - Accepted by Curator
FGF5
Hair length (short)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000310
Fgf5
P15656
Morphology
Cys95Phe
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Fgfr1a1
Fish scales (loss)
Coding,
SNP
Cyprinus carpio
common carp - (species) D
Domesticated
Candidate Gene
Rohner N; Bercsényi M; Orbán L ; et al. (2009)
Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.
GP00000313
fgfr1a
Q90Z00
Morphology
Glu664Lys
Cyprinus carpio
common carp - (species)
Cyprinus carpio
common carp - (species) D
Fgfr1a1
Cyprinus carpio
common carp - (species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
SNP
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
N322K and Q324T
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)
Coding,
SNP
Glycine soja
(species)
Intraspecific
Linkage Mapping
Takahashi R; Dubouzet JG; Matsumura H ; et al. (2010)
A new allele of flower color gene W1 encoding flavonoid 3'5'-hydroxylase is responsible for light pu[...]
GP00000323
CYP75A2
P37120
Morphology
V210M (uncertain); no expression level differences detected
Glycine max
soybean - (species)
Glycine soja
(species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
SNP
Pisum sativum
pea - (species)
Domesticated
Candidate Gene
Moreau C; Ambrose MJ; Turner L ; et al. (2012)
The B gene of pea encodes a defective flavonoid 3',5'-hydroxylase, and confers pink flower color.
GP00000326
CYP75A2
P37120
Morphology
G111E
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Pisum sativum
pea - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
GP00000330
FLC
Q9S7Q7
Physiology
Substitution creating premature Stop (codon 158) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Coustham V; Li P; Strange A ; et al. (2012)
Quantitative modulation of polycomb silencing underlies natural variation in vernalization.
1 Additional References
GP00000331
FLC
Q9S7Q7
Physiology
Two SNPs (_121 and +598) associated with lower Histone H3K27 methylation
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000335
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Capsella rubella
(species)
Intraspecific
Linkage Mapping
Guo YL; Todesco M; Hagmann J ; et al. (2012)
Independent FLC mutations as causes of flowering-time variation in Arabidopsis thaliana and Capsella[...]
1 Additional References
GP00000337
FLC
Q9S7Q7
Physiology
Splice site mutation introducing frameshift; removing the last 35 of 198 amino acids
Capsella rubella
(species)
Capsella rubella
(species)
FLC (Flowering Locus C)
Capsella rubella
(species)
Published - Accepted by Curator
FLC-1
Flowering time
Coding,
SNP
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Yuan YX; Wu J; Sun RF ; et al. (2009)
A naturally occurring splicing site mutation in the Brassica rapa FLC1 gene is associated with varia[...]
GP00000338
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
FLC-1
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
FoxP2
Gene expression change (transcriptional targets)
Coding,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Konopka G; Bomar JM; Winden K ; et al. (2009)
Human-specific transcriptional regulation of CNS development genes by FOXP2.
1 Additional References
GP00000353
FOXP2
O15409
Behavior
2 aa. Changes resulting in changes of the regulated transcriptional targets in a human neuron cell line. Speculatively; these changes could be associated with language skills but these connections with null-mutant phenotypes are dubious
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species)
FoxP2
Homo sapiens
human - (species)
Published - Accepted by Curator
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Pineau C; Loubet S; Lefoulon C ; et al. (2012)
Natural variation at the FRD3 MATE transporter locus reveals cross-talk between Fe homeostasis and Z[...]
GP00000355
DTX43
Q9SFB0
Physiology
the Sha allele (Zn-sensitive) shows non-functional protein due to N116S and L117P as well as a weaker expression possibly due to 27-bp and 28bp deletions in promoter
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
1 Additional References
GP00000363
FRI
P0DH90
Physiology
Trp240* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000364
FRI
P0DH90
Physiology
Glu361* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Gazzani S; Gendall AR; Lister C ; et al. (2003)
Analysis of the molecular basis of flowering time variation in Arabidopsis accessions.
GP00000365
FRI
P0DH90
Physiology
K232* in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000373
FRI
P0DH90
Physiology
Y162* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000374
FRI
P0DH90
Physiology
K170* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida like 1 (FRL1)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Schläppi MR (2006)
FRIGIDA LIKE 2 is a functional allele in Landsberg erecta and compensates for a nonsense allele of F[...]
GP00000376
FRL1
Q9FFF1
Physiology
E279* in the middle of the conceptual protein sequence N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida like 1 (FRL1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida like 2 (FRL2)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Schläppi MR (2006)
FRIGIDA LIKE 2 is a functional allele in Landsberg erecta and compensates for a nonsense allele of F[...]
GP00000377
FRL2
Q9C6S2
Physiology
A132P and/or L401Q
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida like 2 (FRL2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
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[...]
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
FUT2
ABO antigen blood type
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
2 Additional References
GP00000381
FUT2
Q10981
Physiology
premature stop at codon 143: TGG>TGA N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000382
FUT2
Q10981
Physiology
Ile129Phe
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
GCNF (NR6A1)
Vertebrae number
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Mikawa S; Morozumi T; Shimanuki S ; et al. (2007)
Fine mapping of a swine quantitative trait locus for number of vertebrae and analysis of an orphan n[...]
GP00000386
Nr6a1
Q64249
Morphology
Pro192Leu
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
GCNF (NR6A1)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
GDF9
Increased ovulation rate
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
Silva BD; Castro EA; Souza CJ ; et al. (2011)
A new polymorphism in the Growth and Differentiation Factor 9 (GDF9) gene is associated with increas[...]
GP00000390
GDF9
O60383
Physiology
F345C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Increased ovulation rate; Heterozygote shows phenotype; homozygote results in ovarian failure
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Nicol L; Bishop SC; Pong-Wong R ; et al. (2009)
Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility i[...]
GP00000391
GDF9
O60383
Physiology
S109R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GIGANTEA
Photoperiod response
Circadian rhythm
Coding,
SNP
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Xie Q; Lou P; Hermand V ; et al. (2015)
Allelic polymorphism of GIGANTEA is responsible for naturally occurring variation in circadian perio[...]
GP00000396
GI
Q9SQI2
Physiology
Physiology
Ser264Ala
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
GIGANTEA
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
GL3.1
Grain size
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Qi P; Lin YS; Song XJ ; et al. (2012)
The novel quantitative trait locus GL3.1 controls rice grain size and yield by regulating Cyclin-T1;[...]
GP00000397
GL3
Q9FN69
Morphology
2 a.a. substitutions
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GL3.1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000401
G6PD
P11413
Physiology
Ser188Phe
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Louicharoen C; Patin E; Paul R ; et al. (2009)
Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.
GP00000402
G6PD
P11413
Physiology
Ser163Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000403
G6PD
P11413
Physiology
Asn126Asp + Val68Met
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-dependent insulinotropic polypeptide
Glycemia
Adipolysis rate
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Chang CL; Cai JJ; Lo C ; et al. (2011)
Adaptive selection of an incretin gene in Eurasian populations.
GP00000404
GIP
P09681
Physiology
Physiology
Ser103Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Glucose-dependent insulinotropic polypeptide
Homo sapiens
human - (species)
Published - Accepted by Curator
GPA1
Pheromone response
Cell elongation
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Yvert G; Brem RB; Whittle J ; et al. (2003)
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors.
GP00000410
GPA1
P08539
Physiology
Physiology
Ser469Ile
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
GPA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Growth Hormone Receptor
Body size (height)
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015)
Height-reducing variants and selection for short stature in Sardinia.
GP00000415
GHR
P10912
Morphology
Arg61* N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Growth Hormone Receptor
Homo sapiens
human - (species)
Published - Accepted by Curator
Growth Hormone Receptor
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Viitala S; Szyda J; Blott S ; et al. (2006)
The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...]
GP00000416
Ghr
P16882
Physiology
Phe279Tyr
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
Growth Hormone Receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
GS3
Grain size
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Fan C; Xing Y; Mao H ; et al. (2006)
GS3, a major QTL for grain length and weight and minor QTL for grain width and thickness in rice, en[...]
1 Additional References
GP00000417
GS3
C6L686
Morphology
C55*;TGC>TGA causing a 178-aa truncation in the C-terminus of the predicted protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GS3
Oryza sativa
rice - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
GP00000426
ABCA2
A0A0S0G7V0
Physiology
Pro53* (161T>A) N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Hd6a
Flowering time
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Takahashi Y; Shomura A; Sasaki T ; et al. (2001)
Hd6, a rice quantitative trait locus involved in photoperiod sensitivity, encodes the alpha subunit [...]
1 Additional References
GP00000442
HD6
Q9AR27
Physiology
K91*; AAG>TAG N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Hd6a
Oryza sativa
rice - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000443
HMA3
P0CW78
Physiology
Gln564Met and Tyr480Asp; several haplotypes at high-frequency resulting in hypofunctional proteins; associated with hyper-accumulation of cadmium
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000444
HMA3
P0CW78
Physiology
Premature stop codon resulting in hypofunctional transporter. This is a high-frequency allele; suggesting the hyper-functional alleles are only selected in Cd-rich soils N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ueno D; Yamaji N; Kono I ; et al. (2010)
Gene limiting cadmium accumulation in rice.
GP00000445
HMA3
P0CW78
Physiology
H80R
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
heavy metal atpase3 (HMA3)
Oryza sativa
rice - (species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
1 Additional References
GP00000450
HMA5
Q9SH30
Physiology
P626L
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000451
HMA5
Q9SH30
Physiology
N923T
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000452
hecw-1
G5EEJ0
Behavior
Y322C
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000453
hecw-1
G5EEJ0
Behavior
Q325P
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
hemoglobin; HBA
Hypoxia response
Coding,
SNP
Lama
(genus)
Interspecific
Candidate Gene
Kleinschmidt T; März J; Jürgens KD ; et al. (1986)
Interaction of allosteric effectors with alpha-globin chains and high altitude respiration of mammal[...]
GP00000454
HBA1
P69905
Physiology
Asp122His
Mammalia
mammals - (class)
Lama
(genus)
hemoglobin; HBA
Lama
(genus)
Published - Accepted by Curator
hemoglobin; HBA and HBB
Hypoxia response
Coding,
SNP
Crocodylus niloticus
Nile crocodile - (species)
Intergeneric or Higher
Candidate Gene
Komiyama NH; Miyazaki G; Tame J ; et al. (1995)
Transplanting a unique allosteric effect from crocodile into human haemoglobin.
GP00000455
HBA1
P69905
Physiology
No more than 12 amino acid substitutions required for providing crocodile-like properties in engineered human Hb
Homo sapiens
human - (species)
Crocodylus niloticus
Nile crocodile - (species)
hemoglobin; HBA and HBB
Crocodylus niloticus
Nile crocodile - (species)
Published - Accepted by Curator
hemoglobin; HBA-T1 and T2 paralogues
Hypoxia response
Coding,
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Sabatino SJ; Hoffmann FG ; et al. (2007)
The molecular basis of high-altitude adaptation in deer mice.
GP00000456
HBA1
P69905
Physiology
His50Pro; Gly57Ala; Ala60Gly; Asp64Gly; Gly71Ser
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBA-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
2 Additional References
GP00000457
HBA1
P69905
Physiology
Asn9Ser
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
hemoglobin; HBA2
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000458
HBA1
P69905
Physiology
Ala77Thr
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
1 Additional References
GP00000459
HBAD
P02001
Physiology
Ser130Phe
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000460
HBA1
P69905
Physiology
Ala77Thr
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
1 Additional References
GP00000461
HBAD
P02001
Physiology
Val96Ala
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anser indicus
bar-headed goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
GP00000462
HBA1
P69905
Physiology
Pro119Ala
Anser anser
domestic goose - (species)
Anser indicus
bar-headed goose - (species) D
hemoglobin; HBA2
Anser indicus
bar-headed goose - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
2 Additional References
GP00000463
HBA1
P69905
Physiology
Ala5Thr
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBA2
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Merganetta armata
(species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
1 Additional References
GP00000464
HBA1
P69905
Physiology
Ala77Thr
Merganetta armata
(species)
Merganetta armata
(species) D
hemoglobin; HBA2
Merganetta armata
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000465
HBAD
P02001
Physiology
Ile10Leu + Val96Ala
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBA2
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Jallow M; Teo YY; Small KS ; et al. (2009)
Genome-wide and fine-resolution association analysis of malaria in West Africa.
GP00000466
HBB
P68871
Physiology
Glu6Val
Homo sapiens
human - (species)
Homo sapiens
human - (species)
hemoglobin; HBB
Homo sapiens
human - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000467
HBB
P68871
Physiology
Ala116Ser; Leu133Met
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBB
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Anas georgica
yellow-billed pintail - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000468
HBB
P68871
Physiology
Ala116Ser; Leu133Met
Anas
ducks - (genus)
Anas georgica
yellow-billed pintail - (species) D
hemoglobin; HBB
Anas georgica
yellow-billed pintail - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000469
HBB
P68871
Physiology
Ile54Val; Asp94Glu
Anas
ducks - (genus)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000470
HBB
P68871
Physiology
Thr4Ser; Asp94Glu
Anatidae
waterfowl - (family)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000471
HBB
P68871
Physiology
Asp94Glu
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000472
HBB
P68871
Physiology
Asp94Glu
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
GP00000473
HBB
P68871
Physiology
Leu55Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
2 Additional References
GP00000474
HBB
P68871
Physiology
Ala86Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000475
HBA1
P69905
Physiology
Thr8Ala + Ile13Val+ Ala77Thr
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB-T1 and T2 paralogues
Hypoxia response
Coding,
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Runck AM; Sabatino SJ ; et al. (2009)
Evolutionary and functional insights into the mechanism underlying high-altitude adaptation of deer [...]
GP00000476
HBB
P68871
Physiology
Ala62Gly; Gly72Ser; Ser128Ala; Ala135Ser
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBB-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBB/HBD fusion gene
Temperature tolerance (cold)
Coding,
SNP
Mammuthus primigenius
woolly mammoth - (species)
Intraspecific
Candidate Gene
Campbell KL; Roberts JE; Watson LN ; et al. (2010)
Substitutions in woolly mammoth hemoglobin confer biochemical properties adaptive for cold tolerance[...]
1 Additional References
GP00000477
HBB
P68871
Physiology
Thr12Ala; Ala86Ser; Glu101Gln
Elephantidae
elephants - (family)
Mammuthus primigenius
woolly mammoth - (species)
hemoglobin; HBB/HBD fusion gene
Mammuthus primigenius
woolly mammoth - (species)
Published - Accepted by Curator
HUA2
Flowering time
Shoot morphology
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Wang Q; Sajja U; Rosloski S ; et al. (2007)
HUA2 caused natural variation in shoot morphology of A. thaliana.
GP00000491
HUA2
Q9XER9
Physiology
Morphology
K525E N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HUA2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Human Leukocyte Antigen-B (HLA-B)
Pathogen resistance (HIV control)
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
Several a.a. substitutions
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Human Leukocyte Antigen-B (HLA-B)
Homo sapiens
human - (species)
Published - Accepted by Curator
IL4
Immune response
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Linkage Mapping
Rockman MV; Hahn MW; Soranzo N ; et al. (2003)
Positive selection on a human-specific transcription factor binding site regulating IL4 expression.
GP00000497
IL4
P05112
Physiology
_524T promoter single base-pair substitution affecting binding of the NFAT transcription factor
Homo sapiens
human - (species)
Homo sapiens
human - (species)
IL4
Homo sapiens
human - (species)
Published - Accepted by Curator
IME1
Sporulation efficiency
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00000498
IME1
P21190
Physiology
L325M and/or 1bp synonymous substitution
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
IME1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Insulin-like growth factor 2 (IGF2)
Muscular mass
Fat deposition
Heart size
Cis-regulatory,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Van Laere AS; Nguyen M; Braunschweig M ; et al. (2003)
A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig.
1 Additional References
GP00000502
Igf2
P09535
Morphology
Physiology
Morphology
1bp change
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Insulin-like growth factor 2 (IGF2)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
interleukin-4
Immune response
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Rockman MV; Hahn MW; Soranzo N ; et al. (2003)
Positive selection on a human-specific transcription factor binding site regulating IL4 expression.
GP00000504
IL4R
P24394
Physiology
1bp substitution in promoter
Primates
(order)
Homo sapiens
human - (species)
interleukin-4
Homo sapiens
human - (species)
Published - Accepted by Curator
Isocitrate dehydrogenase (NADP) (IDH)
Temperature tolerance (temperature range)
Coding,
SNP
Mytilus trossulus
common blue mussel - (species)
Interspecific
Candidate Gene
Lockwood BL; Somero GN (2012)
Functional determinants of temperature adaptation in enzymes of cold- versus warm-adapted mussels (G[...]
GP00000506
I1VYX2
Physiology
Two a.a. substitutions accounting for Km differences
Mytilus galloprovincialis
Mediterranean mussel - (species)
Mytilus trossulus
common blue mussel - (species)
Isocitrate dehydrogenase (NADP) (IDH)
Mytilus trossulus
common blue mussel - (species)
Published - Accepted by Curator
KCS18
Oil composition
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Jasinski S; Lécureuil A; Miquel M ; et al. (2012)
Natural variation in seed very long chain fatty acid content is controlled by a new isoform of KCS18[...]
GP00000512
FAE1
Q38860
Physiology
L407V N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
KCS18
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
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
Y717* 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
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
Glu345Asp + His346Asn
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,
SNP
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.
1 Additional References
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
KRT71
Hair type (curly)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000524
Krt71
Q9R0H5
Morphology
Arg151Trp
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
KRT71
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
KRT71
Hair type (hairless)
Coding,
SNP
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010)
The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.
GP00000526
Krt71
Q9R0H5
Morphology
Splice site mutation
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
KRT71
Felis catus
domestic cat - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Linkage Mapping
Enattah NS; Sahi T; Savilahti E ; et al. (2002)
Identification of a variant associated with adult-type hypolactasia.
GP00000529
LCT
P09848
Physiology
C-13910T
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
1 Additional References
GP00000530
LCT
P09848
Physiology
C-13907G
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
GP00000531
LCT
P09848
Physiology
T-13915G
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
1 Additional References
GP00000532
LCT
P09848
Physiology
G14010C ; In Khoe Pastoralist group lactase persistence (LP)-regulatory region 2 SNPs with greatest frequencies 13910C>T and 14010G>C
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intergeneric or Higher
Candidate Gene
Wood KV; Lam YA; Seliger HH ; et al. (1989)
Complementary DNA coding click beetle luciferases can elicit bioluminescence of different colors.
GP00000552
P08659
Physiology
several nucleotide substitutions leading to several amino acid changes
Photinus pyralis
common eastern firefly - (species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intraspecific
Candidate Gene
Stolz U; Velez S; Wood KV ; et al. (2003)
Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle.
GP00000553
P08659
Physiology
T739G and C740G in exon 4; leading to one amino acid change
Pyrophorus plagiophthalamus
(species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
luciferase
Bioluminescence spectrum
Coding,
SNP
Pyrophorus plagiophthalamus
(species)
Intraspecific
Candidate Gene
Stolz U; Velez S; Wood KV ; et al. (2003)
Darwinian natural selection for orange bioluminescent color in a Jamaican click beetle.
1 Additional References
GP00000554
P08659
Physiology
G667A; A668G; G712C; G798T; A844A; G847A in exon 4 and A1165G in exon 5 leading to several amino acid changes
Pyrophorus plagiophthalamus
(species)
Pyrophorus plagiophthalamus
(species)
luciferase
Pyrophorus plagiophthalamus
(species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
Coding,
SNP
Opisthocomus hoazin
(species) D
Intraspecific
Candidate Gene
Kornegay JR; Schilling JW; Wilson AC (1994)
Molecular adaptation of a leaf-eating bird: stomach lysozyme of the hoatzin.
GP00000556
LYZ1
P04421
Physiology
R14E; V21E; N75D; D87N; R126K
Aves
birds - (class)
Opisthocomus hoazin
(species) D
lysozyme
Opisthocomus hoazin
(species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
Coding,
SNP
Bos taurus
cattle - (species)
Intraspecific
Candidate Gene
Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2)
Adaptive evolution in the stomach lysozymes of foregut fermenters.
GP00000557
LYZ1
P04421
Physiology
R14K; X21K; N75D; E87N; X126E
Mammalia
mammals - (class)
Bos taurus
cattle - (species)
lysozyme
Bos taurus
cattle - (species)
Published - Accepted by Curator
lysozyme
Digestion (anaerobic enzymatic activity)
Coding,
SNP
Colobinae
(subfamily)
Intraspecific
Candidate Gene
Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2)
Adaptive evolution in the stomach lysozymes of foregut fermenters.
1 Additional References
GP00000558
LYZ1
P04421
Physiology
R14K; R21K; N75D; D87N; X126K
Primates
(order)
Colobinae
(subfamily)
lysozyme
Colobinae
(subfamily)
Published - Accepted by Curator
MC1R
Coloration (albinism)
Coding,
SNP
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Gross JB; Borowsky R; Tabin CJ (2009)
A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]
GP00000568
MC1R
Q01726
Morphology
Arg164Cys (position 160 in human; so this mutation resembles the human R160W hypomorphic human mutation)
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
MC1R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Vulpes lagopus
Arctic fox - (species)
Intraspecific
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) [...]
GP00000569
MC1R
Q01726
Morphology
G5C
Vulpes lagopus
Arctic fox - (species)
Vulpes lagopus
Arctic fox - (species)
MC1R
Vulpes lagopus
Arctic fox - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Vulpes lagopus
Arctic fox - (species)
Intraspecific
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) [...]
GP00000570
MC1R
Q01726
Morphology
F280C
Vulpes lagopus
Arctic fox - (species)
Vulpes lagopus
Arctic fox - (species)
MC1R
Vulpes lagopus
Arctic fox - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Candidate Gene
Klungland H; Våge DI; Gomez-Raya L ; et al. (1995)
The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.
1 Additional References
GP00000572
MC1R
Q01726
Morphology
L99P ; presumably constitutively active
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
MC1R
Bos taurus
cattle - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies)
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Ellinwood NM ; et al. (2003 Jan-Feb)
MC1R studies in dogs with melanistic mask or brindle patterns.
1 Additional References
GP00000574
MC1R
Q01726
Morphology
M264V
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000576
MC1R
Q01726
Morphology
R18C
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000577
MC1R
Q01726
Morphology
R109W
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000578
MC1R
Q01726
Morphology
R160W
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Chaetodipus intermedius
rock pocket mouse - (species) D
Intraspecific
Candidate Gene
Nachman MW; Hoekstra HE; D'Agostino SL (2003)
The genetic basis of adaptive melanism in pocket mice.
GP00000579
MC1R
Q01726
Morphology
Q233H
Chaetodipus intermedius
rock pocket mouse - (species)
Chaetodipus intermedius
rock pocket mouse - (species) D
MC1R
Chaetodipus intermedius
rock pocket mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species)
Intraspecific
Candidate Gene
Marklund L; Moller MJ; Sandberg K ; et al. (1996)
A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated wit[...]
GP00000580
MC1R
Q01726
Morphology
S83F
Equus caballus
horse - (species)
Equus caballus
horse - (species)
MC1R
Equus caballus
horse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus poschiavinus
(species)
Intraspecific
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000583
MC1R
Q01726
Morphology
S69L
Mus musculus
house mouse - (species)
Mus poschiavinus
(species)
MC1R
Mus poschiavinus
(species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000584
MC1R
Q01726
Morphology
E92K
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000585
MC1R
Q01726
Morphology
L98P
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Candidate Gene
Wada A; Kunieda T; Nishimura M ; et al. (2005 Mar-Apr)
A nucleotide substitution responsible for the tawny coat color mutation carried by the MSKR inbred s[...]
GP00000586
MC1R
Q01726
Morphology
W252C
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (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.
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
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Linkage Mapping
Hoekstra HE; Hirschmann RJ; Bundey RA ; et al. (2006)
A single amino acid mutation contributes to adaptive beach mouse color pattern.
GP00000594
MC1R
Q01726
Morphology
R65C
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
MC1R
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Rattus rattus
black rat - (species)
Intraspecific
Candidate Gene
Kambe Y; Tanikawa T; Matsumoto Y ; et al. (2011)
Origin of agouti-melanistic polymorphism in Wild Black Rats (Rattus rattus) inferred from Mc1r gene [...]
GP00000595
MC1R
Q01726
Morphology
Glu93Lys
Rattus tanezumi
Oriental house rat - (species)
Rattus rattus
black rat - (species)
MC1R
Rattus rattus
black rat - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
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.
GP00000598
MC1R
Q01726
Morphology
C125R; constitutively active receptor
Vulpes vulpes
red fox - (species)
Vulpes vulpes
red fox - (species)
MC1R
Vulpes vulpes
red fox - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Anser caerulescens
snow goose - (species)
Intraspecific
Candidate Gene
Mundy NI; Badcock NS; Hart T ; et al. (2004)
Conserved genetic basis of a quantitative plumage trait involved in mate choice.
GP00000599
MC1R
Q01726
Morphology
V85M
Anser caerulescens
snow goose - (species)
Anser caerulescens
snow goose - (species)
MC1R
Anser caerulescens
snow goose - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Coereba flaveola
Bananaquit - (species) D
Intraspecific
Candidate Gene
Theron E; Hawkins K; Bermingham E ; et al. (2001)
The molecular basis of an avian plumage polymorphism in the wild: a melanocortin-1-receptor point mu[...]
GP00000600
MC1R
Q01726
Morphology
E92K + T960C in 3'UTR
Coereba flaveola
Bananaquit - (species)
Coereba flaveola
Bananaquit - (species) D
MC1R
Coereba flaveola
Bananaquit - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species)
Domesticated
Candidate Gene
Guernsey MW; Ritscher L; Miller MA ; et al. (2013)
A Val85Met mutation in melanocortin-1 receptor is associated with reductions in eumelanic pigmentati[...]
GP00000601
MC1R
Q01726
Morphology
Val85Met (G253A)
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species)
MC1R
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Nadeau NJ; Minvielle F; Mundy NI (2006)
Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japon[...]
GP00000602
MC1R
Q01726
Morphology
E92K
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
MC1R
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
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)
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[...]
GP00000605
MC1R
Q01726
Morphology
E92K; constitutive activation
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
1 Additional References
GP00000606
MC1R
Q01726
Morphology
C33W
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
GP00000607
MC1R
Q01726
Morphology
D37G
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996)
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]
GP00000608
MC1R
Q01726
Morphology
L244P
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
MC1R
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Kerje S; Lind J; Schütz K ; et al. (2003)
Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken.
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
Malurus leucopterus
white-winged fairy-wren - (species)
Malurus leucopterus
white-winged fairy-wren - (species)
MC1R
Malurus leucopterus
white-winged fairy-wren - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Stercorarius parasiticus
(species)
Intraspecific
Candidate Gene
Mundy NI; Badcock NS; Hart T ; et al. (2004)
Conserved genetic basis of a quantitative plumage trait involved in mate choice.
GP00000611
MC1R
Q01726
Morphology
R230H
Stercorarius parasiticus
(species)
Stercorarius parasiticus
(species)
MC1R
Stercorarius parasiticus
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Sula leucogaster
(species)
Intraspecific
Candidate Gene
Baião PC; Parker PG (2012 May-Jun)
Evolution of the melanocortin-1 receptor (MC1R) in Boobies and Gannets (Aves, Suliformes).
GP00000612
MC1R
Q01726
Morphology
R112H
Sula leucogaster
(species)
Sula leucogaster
(species)
MC1R
Sula leucogaster
(species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Sula sula
red-footed booby - (species)
Intraspecific
Candidate Gene
Baião PC; Schreiber E; Parker PG (2007 Jul-Aug)
The genetic basis of the plumage polymorphism in red-footed boobies (Sula sula): a melanocortin-1 re[...]
GP00000613
MC1R
Q01726
Morphology
V85M and/or H207R; current data cannot determine which one or if both these substitutions are underlying the phenotypic variation
Sula sula
red-footed booby - (species)
Sula sula
red-footed booby - (species)
MC1R
Sula sula
red-footed booby - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
Coding,
SNP
Sula sula
red-footed booby - (species)
Intraspecific
Candidate Gene
Baião PC; Parker PG (2012 May-Jun)
Evolution of the melanocortin-1 receptor (MC1R) in Boobies and Gannets (Aves, Suliformes).
GP00000614
MC1R
Q01726
Morphology
V85M and H207R
Sula sula
red-footed booby - (species)
Sula sula
red-footed booby - (species)
MC1R
Sula sula
red-footed booby - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
GP00000615
MC1R
Q01726
Morphology
R151C
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
1 Additional References
GP00000616
MC1R
Q01726
Morphology
D294H
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Smith R; Healy E; Siddiqui S ; et al. (1998)
Melanocortin 1 receptor variants in an Irish population.
1 Additional References
GP00000617
MC1R
Q01726
Morphology
R160W
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Box NF; Wyeth JR; O'Gorman LE ; et al. (1997)
Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.
1 Additional References
GP00000618
MC1R
Q01726
Morphology
Val60Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
3 Additional References
GP00000619
MC1R
Q01726
Morphology
Asp84Glu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000620
MC1R
Q01726
Morphology
Val92Met
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000621
MC1R
Q01726
Morphology
Arg142His
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000622
MC1R
Q01726
Morphology
Arg151Cys
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000623
MC1R
Q01726
Morphology
Ile155Thr
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000624
MC1R
Q01726
Morphology
Arg160Trp
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000625
MC1R
Q01726
Morphology
Arg163Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (red hair)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007)
Genetic determinants of hair, eye and skin pigmentation in Europeans.
1 Additional References
GP00000626
MC1R
Q01726
Morphology
Asp294His
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Aspidoscelis inornatus
Little striped whiptail - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Hoekstra HE; Nachman MW (2004)
Adaptive reptile color variation and the evolution of the Mc1r gene.
1 Additional References
GP00000627
MC1R
Q01726
Morphology
I170T
Aspidoscelis inornatus
Little striped whiptail - (species)
Aspidoscelis inornatus
Little striped whiptail - (species)
MC1R
Aspidoscelis inornatus
Little striped whiptail - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Holbrookia maculata
lesser earless lizard - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Hoekstra HE; Nachman MW (2004)
Adaptive reptile color variation and the evolution of the Mc1r gene.
1 Additional References
GP00000628
MC1R
Q01726
Morphology
V168I; but failed functional validation in Rosenblum et al. 2010
Holbrookia maculata
lesser earless lizard - (species)
Holbrookia maculata
lesser earless lizard - (species)
MC1R
Holbrookia maculata
lesser earless lizard - (species)
Published - Accepted by Curator
MC1R
Coloration (scales)
Coding,
SNP
Sceloporus undulatus
fence lizard - (species)
Intraspecific
Candidate Gene
Rosenblum EB; Römpler H; Schöneberg T ; et al. (2010)
Molecular and functional basis of phenotypic convergence in white lizards at White Sands.
1 Additional References
GP00000629
MC1R
Q01726
Morphology
H208Y
Sceloporus undulatus
fence lizard - (species)
Sceloporus undulatus
fence lizard - (species)
MC1R
Sceloporus undulatus
fence lizard - (species)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007)
A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.
GP00000630
MC1R
Q01726
Morphology
Arg307Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species)
MC1R
Homo sapiens
human - (species)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000632
MC1R
Q01726
Morphology
V"92"M actually at 95
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000633
MC1R
Q01726
Morphology
D"121"N Actually 124
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000634
MC1R
Q01726
Morphology
A"161"V actually 164
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000635
MC1R
Q01726
Morphology
L"99" P Actually 102
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Kijas JM; Wales R; Törnsten A ; et al. (1998)
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
1 Additional References
GP00000636
MC1R
Q01726
Morphology
A"240"T actually 243
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC4R
Feeding behavior
Coding,
SNP
Astyanax mexicanus
Mexican tetra - (species)
Intraspecific
Linkage Mapping
Aspiras AC; Rohner N; Martineau B ; et al. (2015)
Melanocortin 4 receptor mutations contribute to the adaptation of cavefish to nutrient-poor conditio[...]
1 Additional References
GP00000637
mc4r
B0V1P1
Behavior
Gly145Ser (candidate mutation)
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species)
MC4R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MDS3
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
GP00000641
MDS3
P53094
Physiology
Phe - Val substitution
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
MDS3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Linkage Mapping
Drögemüller C; Philipp U; Haase B ; et al. (2007)
A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal[...]
GP00000643
Mlph
Q91V27
Morphology
GA substitution disrupting Splice Site
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Vaez M; Follett SA; Bed'hom B ; et al. (2008)
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phe[...]
GP00000645
Mlph
Q91V27
Morphology
Arg35Trp
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Melanophilin (MLPH)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
SNP
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Christensen K ; et al. (2013)
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
GP00000647
Mlph
Q91V27
Morphology
Splice donor site variation in exon 8 resulting in a premature stop codon
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
Melanophilin (MLPH)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Cis-regulatory,
SNP
Oryctolagus
(genus) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00000649
Mlph
Q91V27
Morphology
c.111-5C>A (exon skipping resulting in frameshift and truncated protein)
Oryctolagus
(genus)
Oryctolagus
(genus) D
Melanophilin (MLPH)
Oryctolagus
(genus)
Published - Accepted by Curator
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
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
MKT1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
GP00000662
MKT1
P40850
Physiology
D30G (reversion; functionally verified); evolved independently in 3 lines
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
MKT1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MKT1
Temperature tolerance
Virulence
Sporulation efficiency
Sporulation efficiency
Xenobiotic resistance (alcohol; ethanol)
Xenobiotic resistance (genotoxic DNA-damage agent)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
GP00000666
MKT1
P40850
Physiology
Physiology
Physiology
Physiology
Physiology
Physiology
G30D (functionally verified); or haplotype including G30D (functionally verified)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
MKT1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Mla1
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
GP00000668
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain - exact amino acid change unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla1
Hordeum vulgare
(species)
Published - Accepted by Curator
Mla13
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
1 Additional References
GP00000670
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain - exact amino acid change unknown
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla13
Hordeum vulgare
(species)
Published - Accepted by Curator
Mla6
Pathogen resistance
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Mahadevappa M; Descenzo RA; Wise RP (1994)
Recombination of alleles conferring specific resistance to powdery mildew at the Mla locus in barley[...]
2 Additional References
GP00000671
Mla1
Q7EXP5
Physiology
Coding variation in the LRR domain
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Mla6
Hordeum vulgare
(species)
Published - Accepted by Curator
MLO1
Pathogen resistance
Coding,
SNP
N
Pisum sativum
pea - (species)
Domesticated
Linkage Mapping
Pavan S; Schiavulli A; Appiano M ; et al. (2011)
Pea powdery mildew er1 resistance is associated to loss-of-function mutations at a MLO homologous lo[...]
GP00000673
MLO
P93766
Physiology
1bp substitution resulting in premature stop codon N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
MLO1
Pisum sativum
pea - (species)
Published - Accepted by Curator
MRS1
F2 lethality
Coding,
SNP
Saccharomyces bayanus
(species)
Interspecific
Linkage Mapping
Chou JY; Hung YS; Lin KH ; et al. (2010)
Multiple molecular mechanisms cause reproductive isolation between three yeast species.
GP00000678
MRS1
P07266
Physiology
3 non-synonymous changes
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces bayanus
(species)
MRS1
Saccharomyces bayanus
(species)
Published - Accepted by Curator
MTH1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
GP00000679
CUP1-1
P0CX80
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
MTH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Glycogen content (muscles)
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Milan D; Jeon JT; Looft C ; et al. (2000)
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle.
GP00000682
Prkag3
Q8BGM7
Physiology
R200Q in CBS1; which is the most conserved region among AMPK g chain isoforms; and R200 is conserved in mammalian and Drosophila AMPK g isoforms
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Muscle-specific adenosine monophosphate-activated protein kinase (PRKAG3)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000687
MSTN
O14793
Morphology
Q204* caused by C610T N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000688
MSTN
O14793
Morphology
E226* caused by G676T N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000689
MSTN
O14793
Morphology
C313Y caused by G938A; disrupts disulphide bond
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Marchitelli C; Savarese MC; Crisà A ; et al. (2003)
Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin g[...]
GP00000690
MSTN
O14793
Morphology
E291* caused by G>T N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Shibata M; Matsumoto K; Aikawa K ; et al. (2006)
Gene expression of myostatin during development and regeneration of skeletal muscle in Japanese Blac[...]
GP00000691
MSTN
O14793
Morphology
Asp294Ser
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Alexander LJ; Kuehn LA; Smith TP ; et al. (2009)
A Limousin specific myostatin allele affects longissimus muscle area and fatty acid profiles in a Wa[...]
GP00000692
MSTN
O14793
Morphology
Phe94Leu
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Cis-regulatory,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Clop A; Marcq F; Takeda H ; et al. (2006)
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects musc[...]
GP00000695
MSTN
O14793
Morphology
1bp change; generates binding site for two muscle-expressed miRNAs; causing mRNA degradation and lower levels of circulating myostatin
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Varanus salvator
water monitor - (species) D
Intergeneric or Higher
Candidate Gene
Shull GE; Greeb J; Lingrel JB (1986)
Molecular cloning of three distinct forms of the Na+,K+-ATPase alpha-subunit from rat brain.
2 Additional References
GP00000699
H9GLT4
Physiology
Q111L+ Q120R
Anolis carolinensis
green anole - (species)
Varanus salvator
water monitor - (species) D
Na/K-ATPase alpha-subunit
Varanus salvator
water monitor - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Natricinae
(subfamily) D
Intergeneric or Higher
Candidate Gene
Shull GE; Greeb J; Lingrel JB (1986)
Molecular cloning of three distinct forms of the Na+,K+-ATPase alpha-subunit from rat brain.
GP00000700
H9GLT4
Physiology
Q111L+ Q120R
Colubridae
colubrid snakes - (family)
Natricinae
(subfamily) D
Na/K-ATPase alpha-subunit
Natricinae
(subfamily)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
2 Mutations:
Coding
SNP
Leptodactylus ocellatus
argus frog - (species) D
Interspecific
Candidate Gene
Moore DJ; Halliday DC; Rowell DM ; et al. (2009)
Positive Darwinian selection results in resistance to cardioactive toxins in true toads (Anura: Bufo[...]
GP00000701
atp1a1
Q6P1S7
Physiology
Q111R
Hyloidea
(superfamily)
Leptodactylus ocellatus
argus frog - (species) D
Na/K-ATPase alpha-subunit
Leptodactylus ocellatus
argus frog - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Bufonidae
true toads - (family) D
Intergeneric or Higher
Candidate Gene
Moore DJ; Halliday DC; Rowell DM ; et al. (2009)
Positive Darwinian selection results in resistance to cardioactive toxins in true toads (Anura: Bufo[...]
1 Additional References
GP00000702
atp1a1
Q6P1S7
Physiology
Q111R+ Q119D
Hyloidea
(superfamily)
Bufonidae
true toads - (family) D
Na/K-ATPase alpha-subunit
Bufonidae
true toads - (family)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Naja
(genus) D
Intergeneric or Higher
Candidate Gene
Shull GE; Greeb J; Lingrel JB (1986)
Molecular cloning of three distinct forms of the Na+,K+-ATPase alpha-subunit from rat brain.
1 Additional References
GP00000703
H9GLT4
Physiology
Q111L+ Q120R
Ophiophagus hannah
king cobra - (species)
Naja
(genus) D
Na/K-ATPase alpha-subunit
Naja
(genus)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
4 Mutations:
Coding
SNP
Chrysochus auratus
dogbane beetle - (species) D
Interspecific
Candidate Gene
Aardema ML; Zhen Y; Andolfatto P (2012)
The evolution of cardenolide-resistant forms of Na⁺,K⁺ -ATPase in Danainae butterflies.
GP00000704
K+ ATPase alpha subunit
R4ZHW8
Physiology
Q111L then L111V + N122H +I315L on one recent gene copy
Coleoptera
beetles - (order)
Chrysochus auratus
dogbane beetle - (species) D
Na/K-ATPase alpha-subunit
Chrysochus auratus
dogbane beetle - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Rhyssomatus lineaticollis
(species) D
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
1 Additional References
GP00000705
K+ ATPase alpha subunit
R4ZHW8
Physiology
C104Y
Coleoptera
beetles - (order)
Rhyssomatus lineaticollis
(species) D
Na/K-ATPase alpha-subunit
Rhyssomatus lineaticollis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
2 Mutations:
Coding
SNP
Tetraopes tetrophthalmus
red milkweed beetle - (species) D
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
GP00000706
K+ ATPase alpha subunit
R4ZHW8
Physiology
Q111L + I315V
Coleoptera
beetles - (order)
Tetraopes tetrophthalmus
red milkweed beetle - (species) D
Na/K-ATPase alpha-subunit
Tetraopes tetrophthalmus
red milkweed beetle - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
3 Mutations:
Coding
SNP
Danaus plexippus
monarch butterfly - (species)
Interspecific
Candidate Gene
Aardema ML; Zhen Y; Andolfatto P (2012)
The evolution of cardenolide-resistant forms of Na⁺,K⁺ -ATPase in Danainae butterflies.
GP00000707
K+ ATPase alpha subunit
R4ZHW8
Physiology
Q111L then L111V + N122
Nymphalidae
brushfoots - (family)
Danaus plexippus
monarch butterfly - (species)
Na/K-ATPase alpha-subunit
Danaus plexippus
monarch butterfly - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Erinaceus europaeus
western European hedgehog - (species) D
Intergeneric or Higher
Candidate Gene
Shull GE; Greeb J; Lingrel JB (1986)
Molecular cloning of three distinct forms of the Na+,K+-ATPase alpha-subunit from rat brain.
1 Additional References
GP00000708
Atp1a1
Q8VDN2
Physiology
Q111R+ Q119D
Condylura cristata
star-nosed mole - (species)
Erinaceus europaeus
western European hedgehog - (species) D
Na/K-ATPase alpha-subunit
Erinaceus europaeus
western European hedgehog - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
3 Mutations:
Coding
SNP
Oncopeltus fasciatus
milkweed bug - (species)
Intergeneric or Higher
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
GP00000709
K+ ATPase alpha subunit
R4ZHW8
Physiology
Q111T + D121N + N122H +F786N + T797A on one gene copy
D121N, F786N and T797A have been shown to increase resistance to cardiac glucosides
Insecta
true insects - (class)
Oncopeltus fasciatus
milkweed bug - (species)
Na/K-ATPase alpha-subunit
Oncopeltus fasciatus
milkweed bug - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
2 Mutations:
Coding
SNP
Labidomera clivicollis
(species)
Interspecific
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
1 Additional References
GP00000710
K+ ATPase alpha subunit
R4ZHW8
Physiology
Q111V + N122H
Insecta
true insects - (class)
Labidomera clivicollis
(species)
Na/K-ATPase alpha-subunit
Labidomera clivicollis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Liriomyza asclepiadis
(species)
Interspecific
Candidate Gene
Dobler S; Dalla S; Wagschal V ; et al. (2012)
Community-wide convergent evolution in insect adaptation to toxic cardenolides by substitutions in t[...]
1 Additional References
GP00000711
K+ ATPase alpha subunit
R4ZHW8
Physiology
N122H
Insecta
true insects - (class)
Liriomyza asclepiadis
(species)
Na/K-ATPase alpha-subunit
Liriomyza asclepiadis
(species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
2 Mutations:
Coding
SNP
Aphis nerii
oleander aphid - (species)
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
GP00000712
K+ ATPase alpha subunit
R4ZHW8
Physiology
Y308C + T797A
Insecta
true insects - (class)
Aphis nerii
oleander aphid - (species)
Na/K-ATPase alpha-subunit
Aphis nerii
oleander aphid - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Cycnia tenera
delicate cyncia - (species)
Interspecific
Candidate Gene
Zhen Y; Aardema ML; Medina EM ; et al. (2012)
Parallel molecular evolution in an herbivore community.
GP00000713
K+ ATPase alpha subunit
R4ZHW8
Physiology
Q111L
Lepidoptera
butterflies and moths - (order)
Cycnia tenera
delicate cyncia - (species)
Na/K-ATPase alpha-subunit
Cycnia tenera
delicate cyncia - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Varanus varius
lace monitor - (species) D
Intergeneric or Higher
Candidate Gene
Shull GE; Greeb J; Lingrel JB (1986)
Molecular cloning of three distinct forms of the Na+,K+-ATPase alpha-subunit from rat brain.
1 Additional References
GP00000715
H9GLT4
Physiology
L111Q+ R120Q
Varanus salvator
water monitor - (species)
Varanus varius
lace monitor - (species) D
Na/K-ATPase alpha-subunit
Varanus varius
lace monitor - (species)
Published - Accepted by Curator
Na/K-ATPase alpha-subunit
Xenobiotic resistance (cardiac glucosides)
Coding,
SNP
Bitis arietans
puff adder - (species) D
Intergeneric or Higher
Candidate Gene
Shull GE; Greeb J; Lingrel JB (1986)
Molecular cloning of three distinct forms of the Na+,K+-ATPase alpha-subunit from rat brain.
GP00000716
H9GLT4
Physiology
Q111L+ Q120R
Vipera berus
adder - (species)
Bitis arietans
puff adder - (species) D
Na/K-ATPase alpha-subunit
Bitis arietans
puff adder - (species)
Published - Accepted by Curator
nath-10
Fertility (sperm number; egg laying rate)
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Duveau F; Félix MA (2012)
Role of pleiotropy in the evolution of a cryptic developmental variation in Caenorhabditis elegans.
GP00000718
nath-10
O01757
Morphology
Ile746Met
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
nath-10
Caenorhabditis elegans
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Mya arenaria
(species) D
Interspecific
Candidate Gene
Bricelj VM; Connell L; Konoki K ; et al. (2005)
Sodium channel mutation leading to saxitoxin resistance in clams increases risk of PSP.
1 Additional References
GP00000721
SCN4A
P35499
Physiology
E945D
Mya arenaria
(species)
Mya arenaria
(species) D
SCN4A (Nav1.4)
Mya arenaria
(species)
Published - Accepted by Curator
SCN4A (Nav1.4a gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Takifugu rubripes
torafugu - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
GP00000722
SCN4A
P35499
Physiology
Y401N
Teleostei
teleost fishes - (infraclass)
Takifugu rubripes
torafugu - (species)
SCN4A (Nav1.4a gene copy)
Takifugu rubripes
torafugu - (species)
Published - Accepted by Curator
SCN4A (Nav1.4a gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Tetraodon nigroviridis
spotted green pufferfish - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
GP00000723
SCN4A
P35499
Physiology
Y401C
Teleostei
teleost fishes - (infraclass)
Tetraodon nigroviridis
spotted green pufferfish - (species)
SCN4A (Nav1.4a gene copy)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Erythrolamprus epinephelus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
GP00000724
SCN4A
P35499
Physiology
D1568S in DIV domain supposed to increase the resistance
Erythrolamprus poecilogyrus
(species)
Erythrolamprus epinephelus
(species) D
SCN4A (Nav1.4)
Erythrolamprus epinephelus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis atratus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000726
SCN4A
P35499
Physiology
D1277E in DIII domain
Thamnophis couchii
(species)
Thamnophis atratus
(species) D
SCN4A (Nav1.4)
Thamnophis atratus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis atratus
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000727
SCN4A
P35499
Physiology
D1568N in DIV domain
Thamnophis couchii
(species)
Thamnophis atratus
(species) D
SCN4A (Nav1.4)
Thamnophis atratus
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis couchii
(species) D
Interspecific
Candidate Gene
McGlothlin JW; Kobiela ME; Feldman CR ; et al. (2016)
Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.
1 Additional References
GP00000728
SCN4A
P35499
Physiology
M1276T in DIII domain
Thamnophis atratus
(species)
Thamnophis couchii
(species) D
SCN4A (Nav1.4)
Thamnophis couchii
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Hebius pryeri
Pryer's keelback - (species) D
Interspecific
Candidate Gene
Feldman CR; Brodie ED; Brodie ED ; et al. (2012)
Constraint shapes convergence in tetrodotoxin-resistant sodium channels of snakes.
1 Additional References
GP00000729
SCN4A
P35499
Physiology
D1227E = D945E in DIII domain
Hebius vibakari
Japanese keelback - (species)
Hebius pryeri
Pryer's keelback - (species) D
SCN4A (Nav1.4)
Hebius pryeri
Pryer's keelback - (species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000730
SCN4A
P35499
Physiology
G1566A in DIV domain
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000731
SCN4A
P35499
Physiology
I1561V in DIV domain
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4)
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species)
Intraspecific
Candidate Gene
Geffeney SL; Fujimoto E; Brodie ED ; et al. (2005)
Evolutionary diversification of TTX-resistant sodium channels in a predator-prey interaction.
1 Additional References
GP00000732
SCN4A
P35499
Physiology
I1556L and/or D1568N and/or G1569V
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species)
SCN4A (Nav1.4)
Thamnophis sirtalis
(species)
Published - Accepted by Curator
SCN4A (Nav1.4b gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Tetraodon nigroviridis
spotted green pufferfish - (species)
Interspecific
Candidate Gene
Venkatesh B; Lu SQ; Dandona N ; et al. (2005)
Genetic basis of tetrodotoxin resistance in pufferfishes.
1 Additional References
GP00000733
SCN4A
P35499
Physiology
E945D
Teleostei
teleost fishes - (infraclass)
Tetraodon nigroviridis
spotted green pufferfish - (species)
SCN4A (Nav1.4b gene copy)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
SCN4A (Nav1.4b gene copy)
Xenobiotic resistance (TTX)
Coding,
SNP
Takifugu rubripes
torafugu - (species)
Interspecific
Candidate Gene
Jost MC; Hillis DM; Lu Y ; et al. (2008)
Toxin-resistant sodium channels: parallel adaptive evolution across a complete gene family.
1 Additional References
GP00000734
SCN4A
P35499
Physiology
M1240T
Teleostei
teleost fishes - (infraclass)
Takifugu rubripes
torafugu - (species)
SCN4A (Nav1.4b gene copy)
Takifugu rubripes
torafugu - (species)
Published - Accepted by Curator
Nav1.6 sodium channel
Xenobiotic resistance (TTX)
Coding,
SNP
Thamnophis sirtalis
(species) D
Intraspecific
Candidate Gene
McGlothlin JW; Chuckalovcak JP; Janes DE ; et al. (2014)
Parallel evolution of tetrodotoxin resistance in three voltage-gated sodium channel genes in the gar[...]
GP00000735
SCN8A
Q9UQD0
Physiology
Ile1709Val
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species) D
Nav1.6 sodium channel
Thamnophis sirtalis
(species)
Published - Accepted by Curator
Nav1.7 sodium channel
Xenobiotic resistance (TTX)
4 Mutations:
Coding
SNP
Thamnophis sirtalis
(species) D
Intraspecific
Candidate Gene
McGlothlin JW; Chuckalovcak JP; Janes DE ; et al. (2014)
Parallel evolution of tetrodotoxin resistance in three voltage-gated sodium channel genes in the gar[...]
GP00000736
SCN9A
Q15858
Physiology
Asp1393Glu + Ala1681Gly + Asp1684Asn + Gly1685Tyr
The Asp–Glu substitution has been previously described in Nav1.4 from two snake species, the resistant Th. atratus (Feldman et al. 2009) and the putatively resistant Amphiesma pryeri (Feldman et al. 2012) and replacements at this site lead to minor changes in TTX-binding affinity (Terlau et al. 1991; Choudhary et al. 2003) but this specific replacement has not been empirically tested for its effects on TTX binding.
Thamnophis sirtalis
(species)
Thamnophis sirtalis
(species) D
Nav1.7 sodium channel
Thamnophis sirtalis
(species)
Published - Accepted by Curator
Neverland
Ecological specialization
Cholesterol metabolism
4 Mutations:
Coding
SNP
Drosophila pachea
(species) D
Interspecific
Candidate Gene
Lang M; Murat S; Clark AG ; et al. (2012)
Mutations in the neverland gene turned Drosophila pachea into an obligate specialist species.
1 Additional References
GP00000738
nvd
Q1JUZ1
Physiology
Physiology
Four a.a. substitutions G250A L330I G376T E377G - each one decreases enzyme activity
Drosophila acanthoptera
(species)
Drosophila pachea
(species) D
Courtier Virginie
Neverland
Drosophila pachea
(species)
Published - Accepted by Curator
npr-1
Aggregation behavior
Foraging behavior
CO2 avoidance
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
de Bono M; Bargmann CI (1998)
Natural variation in a neuropeptide Y receptor homolog modifies social behavior and food response in[...]
GP00000739
npr-1
Q18534
Behavior
Behavior
Behavior
Behavior
Val215Phe (pleiotropic; see other entries)
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
npr-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Nramp aluminum transporter1
Metal tolerance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Famoso AN; Zhao K; Clark RT ; et al. (2011)
Genetic architecture of aluminum tolerance in rice (Oryza sativa) determined through genome-wide ass[...]
4 Additional References
GP00000740
NRAT1
Q6ZG85
Physiology
3a.a. substitutions
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Nramp aluminum transporter1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Oca2
Coloration (eyes; skin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Eiberg H; Troelsen J; Nielsen M ; et al. (2008)
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory el[...]
GP00000747
Oca2
Q62052
Morphology
Causative SNP in enhancer localized in intron of neighbor gene
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
Oca2
Coloration (skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Edwards M; Bigham A; Tan J ; et al. (2010)
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...]
3 Additional References
GP00000748
Oca2
Q62052
Morphology
His615Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
Odorant receptor 3 (OR3)
Olfactory behavior (pheromone)
Coding,
SNP
Ostrinia furnacalis
Asian corn borer - (species)
Interspecific
Candidate Gene
Leary GP; Allen JE; Bunger PL ; et al. (2012)
Single mutation to a sex pheromone receptor provides adaptive specificity between closely related mo[...]
1 Additional References
GP00000749
OR3
D3J5H6
Behavior
A148T
Ostrinia nubilalis
European corn borer - (species)
Ostrinia furnacalis
Asian corn borer - (species)
Odorant receptor 3 (OR3)
Ostrinia furnacalis
Asian corn borer - (species)
Published - Accepted by Curator
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Fragrance
Cis-regulatory,
SNP
Petunia x hybrida
(species)
Domesticated
Linkage Mapping
Van Moerkercke A; Haring MA; Schuurink RC (2011)
The transcription factor EMISSION OF BENZENOIDS II activates the MYB ODORANT1 promoter at a MYB bind[...]
GP00000751
ODO1
Q50EX6
Physiology
C/T substitution in enhancer region MYB-TF binding site
Petunia x hybrida
(species)
Petunia x hybrida
(species)
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Petunia x hybrida
(species)
Published - Accepted by Curator
opsin
Color vision (blue)
Coding,
SNP
Alloteuthis subulata
(species)
Interspecific
Candidate Gene
Morris A; Bowmaker JK; Hunt DM (1993)
The molecular basis of a spectral shift in the rhodopsins of two species of squid from different pho[...]
GP00000755
opn1sw1
Q9W6A9
Physiology
F270S
Loligo forbesii
northern European squid - (species)
Alloteuthis subulata
(species)
opsin
Alloteuthis subulata
(species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision
Coding,
SNP
Odontoceti
tooth whales - (suborder)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000757
OPN1SW
P03999
Physiology
E113G; disrupts opsin-chromophore binding
Cetacea
whales - (order)
Odontoceti
tooth whales - (suborder)
opsin - (SWS1)
Odontoceti
tooth whales - (suborder)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Melopsittacus undulatus
budgerigar - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Radlwimmer FB; Blow NS (2000)
Ultraviolet pigments in birds evolved from violet pigments by a single amino acid change.
GP00000760
OPN1SW
P03999
Physiology
S86A and S90C - both have phenotypic effect - effect of S86 tested in Anolis carolinensis
Aves
birds - (class)
Melopsittacus undulatus
budgerigar - (species) D
opsin - (SWS1)
Melopsittacus undulatus
budgerigar - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Rhea americana
greater rhea - (species) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
1 Additional References
GP00000761
OPN1SW
P03999
Physiology
S86F and S90C - both have phenotypic effect
Aves
birds - (class)
Rhea americana
greater rhea - (species) D
opsin - (SWS1)
Rhea americana
greater rhea - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Larus
(genus) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
2 Additional References
GP00000762
OPN1SW
P03999
Physiology
C86I and S90C - C90S has an effect (tested in Carvalho et al 2007) and S86F have an effect (tested in Carvalho et al 2007)
Aves
birds - (class)
Larus
(genus) D
opsin - (SWS1)
Larus
(genus)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
Coding,
SNP
Trogon curucui
(species) D
Intergeneric or Higher
Candidate Gene
Odeen A; Hastad O (2003)
Complex distribution of avian color vision systems revealed by sequencing the SWS1 opsin from total [...]
1 Additional References
GP00000763
OPN1SW
P03999
Physiology
S86F
Aves
birds - (class)
Trogon curucui
(species) D
opsin - (SWS1)
Trogon curucui
(species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (UV-shift)
Coding,
SNP
Taeniopygia guttata
zebra finch - (species)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Radlwimmer FB; Blow NS (2000)
Ultraviolet pigments in birds evolved from violet pigments by a single amino acid change.
1 Additional References
GP00000764
OPN1SW
P03999
Physiology
S90C
Passeriformes
(order)
Taeniopygia guttata
zebra finch - (species)
opsin - (SWS1)
Taeniopygia guttata
zebra finch - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
3 Mutations:
Coding
SNP
Xenopus laevis
African clawed frog - (species) D
Intergeneric or Higher
Candidate Gene
Takahashi Y; Yokoyama S (2005)
Genetic basis of spectral tuning in the violet-sensitive visual pigment of African clawed frog, Xeno[...]
1 Additional References
GP00000765
OPN1SW
P03999
Physiology
F49L, F86M, E113D - all have an effect (+ maybe V91I T93P V109A L116V S118T)
Amniota
amniotes - (no rank)
Xenopus laevis
African clawed frog - (species) D
opsin - (SWS1)
Xenopus laevis
African clawed frog - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Macropodidae
(family)
Intergeneric or Higher
Candidate Gene
Deeb SS; Wakefield MJ; Tada T ; et al. (2003)
The cone visual pigments of an Australian marsupial, the tammar wallaby (Macropus eugenii): sequence[...]
GP00000766
OPN1SW
P03999
Physiology
F86Y
Metatheria
marsupials - (no rank)
Macropodidae
(family)
opsin - (SWS1)
Macropodidae
(family)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Candidate Gene
Parry JW; Poopalasundaram S; Bowmaker JK ; et al. (2004)
A novel amino acid substitution is responsible for spectral tuning in a rodent violet-sensitive visu[...]
1 Additional References
GP00000767
OPN1SW
P03999
Physiology
F86V
Rodentia
rodent - (order)
Cavia porcellus
domestic guinea pig - (species)
opsin - (SWS1)
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (violet-shift)
Coding,
SNP
Sciurus carolinensis
gray squirrel - (species)
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000768
OPN1SW
P03999
Physiology
F86Y
Rodentia
rodent - (order)
Sciurus carolinensis
gray squirrel - (species)
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWRh)
Color vision (blue shift)
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
I17M; S137A=S180A in human LWS/MWS numbering system
Limenitis arthemis
white admiral - (species)
Limenitis archippus
viceroy - (species)
opsin - rhodopsin (LWRh)
Limenitis archippus
viceroy - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWRh)
Color vision (blue shift)
Coding,
SNP
Junonia
buckeyes - (genus)
Intergeneric or Higher
Candidate Gene
Frentiu FD; Bernard GD; Cuevas CI ; et al. (2007)
Adaptive evolution of color vision as seen through the eyes of butterflies.
GP00000770
LWRh
E2DZP1
Physiology
I17M; S137A=S180A in human LWS/MWS numbering system
Nymphalidae
brushfoots - (family)
Junonia
buckeyes - (genus)
opsin - rhodopsin (LWRh)
Junonia
buckeyes - (genus)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
SNP
Balaenidae
right whales - (family)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000775
OPN1LW
P04000
Physiology
AG to GG splice site mutation
Cetacea
whales - (order)
Balaenidae
right whales - (family)
opsin - rhodopsin (LWS)
Balaenidae
right whales - (family)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision (blue shift)
Coding,
SNP
Neochromis greenwoodi
(species)
Intraspecific
Candidate Gene
Terai Y; Seehausen O; Sasaki T ; et al. (2006)
Divergent selection on opsins drives incipient speciation in Lake Victoria cichlids.
GP00000776
OPN1LW
P04000
Physiology
Candidate mutations are CS180A and/or I277C (human LWS/MWS numbering)
African cichlids
(no rank)
Neochromis greenwoodi
(species)
opsin - rhodopsin (LWS)
Neochromis greenwoodi
(species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision (blue shift)
3 Mutations:
Coding
SNP
Pundamilia pundamilia
(species)
Intraspecific
Candidate Gene
Seehausen O; Terai Y; Magalhaes IS ; et al. (2008)
Speciation through sensory drive in cichlid fish.
GP00000777
OPN1LW
P04000
Physiology
Y219F; A233T; C277I (human LWS/MWS numbering system)
Pundamilia pundamilia
(species)
Pundamilia pundamilia
(species)
opsin - rhodopsin (LWS)
Pundamilia pundamilia
(species)
Published - Accepted by Curator
opsin - rhodopsin (MWS=duplicate of LWS)
Color vision (green-shift)
7 Mutations:
Coding
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Asenjo AB; Rim J; Oprian DD (1994)
Molecular determinants of human red/green color discrimination.
GP00000778
OPN1MW
P04001
Physiology
S116Y; S180A; I230T; A233S/T; Y277F; T285A; Y309F
according to an extensive mutagenesis study including a set of 28 chimeric proteins and an additional 30 single and multiple point mutants the spectral difference between these 2 pigments is shown to be determined by 7 and only 7 amino acid residues. In going from the red pigment to the green pigment, the 7 residues are Ser 116Tyr Ser 180Ala Ile 230Thr Ala233Ser Tyr277Phe Thr285Ala and Tyr309Phe.
Primates
(order)
Catarrhini
(parvorder)
opsin - rhodopsin (MWS=duplicate of LWS)
Catarrhini
(parvorder)
Published - Accepted by Curator
opsin - rhodopsin (UVRh2)
Color vision (UV-shift)
2 Mutations:
Coding
SNP
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
Intergeneric or Higher
Candidate Gene
Briscoe AD; Bybee SM; Bernard GD ; et al. (2010)
Positive selection of a duplicated UV-sensitive visual pigment coincides with wing pigment evolution[...]
1 Additional References
GP00000779
UVRh2
E2DZL8
Physiology
T180A; Y277F (human LWS/MWS numbering system) - Homology modeling of the UVRh rhodopsins of H. erato indicates sites 179 and 289 correspond to experimentally determined spectral tuning sites 180 and 277 in the human red cone pigment numbering system. The two Heliconius visual pigments differ in having amino acid changes A180T and F277Y at these sites. In site-directed mutagenesis experiments amino acid changes A180S and F277Y increased lambda-max values of human green pigment by ∼7 and 10 nm, respectively, and the effects of these amino acid substitutions on lambda-max were approximately additive
Nymphalidae
brushfoots - (family)
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
opsin - rhodopsin (UVRh2)
Heliconius pachinus
(species)
Heliconius erato
crimson-patched longwing - (species)
Heliconius hortense
(species)
Heliconius sapho
(species)
Heliconius charithonia
zebra longwing - (species)
Heliconius melpomene
postman butterfly - (species)
Heliconius elevatus
(species)
Heliconius cydno
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
2 Mutations:
Coding
SNP
undetermined Cottoidei 'Lake Baikal'
(species)
Intergeneric or Higher
Candidate Gene
Hunt DM; Fitzgibbon J; Slobodyanyuk SJ ; et al. (1996)
Spectral tuning and molecular evolution of rod visual pigments in the species flock of cottoid fish [...]
1 Additional References
GP00000780
RHO
P08100
Physiology
D83N; A292S
undetermined Cottoidei 'Lake Baikal'
(species)
undetermined Cottoidei 'Lake Baikal'
(species)
opsin - rhodopsin1 (RH1)
undetermined Cottoidei 'Lake Baikal'
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
Coding,
SNP
Megaderma lyra
Indian false vampire - (species) D
Intergeneric or Higher
Candidate Gene
Sugawara T; Imai H; Nikaido M ; et al. (2010)
Vertebrate rhodopsin adaptation to dim light via rapid meta-II intermediate formation.
GP00000781
RHO
P08100
Physiology
D83N
Chiroptera
bats - (order)
Megaderma lyra
Indian false vampire - (species) D
opsin - rhodopsin1 (RH1)
Megaderma lyra
Indian false vampire - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
2 Mutations:
Coding
SNP
Sebastolobus altivelis
(species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T; Yamato T (2007 Mar-Apr)
Modulation of the absorption maximum of rhodopsin by amino acids in the C-terminus.
GP00000782
RHO
P08100
Physiology
D83N and A292S
Teleostei
teleost fishes - (infraclass)
Sebastolobus altivelis
(species) D
opsin - rhodopsin1 (RH1)
Sebastolobus altivelis
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue shift)
Coding,
SNP
Flaveria trinervia
(species)
Intergeneric or Higher
Candidate Gene
Sugawara T; Imai H; Nikaido M ; et al. (2010)
Vertebrate rhodopsin adaptation to dim light via rapid meta-II intermediate formation.
1 Additional References
GP00000783
RHO
P08100
Physiology
D83N
Vespertilionidae
common bats - (family)
Flaveria trinervia
(species)
opsin - rhodopsin1 (RH1)
Flaveria trinervia
(species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Squamata
squamates - (order) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Zhang H; Radlwimmer FB ; et al. (1999)
Adaptive evolution of color vision of the Comoran coelacanth (Latimeria chalumnae).
GP00000784
RHO
P08100
Physiology
D83N
Amniota
amniotes - (no rank)
Squamata
squamates - (order) D
opsin - rhodopsin1 (RH1)
Squamata
squamates - (order)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Orcinus orca
killer whale - (species) D
Intergeneric or Higher
Candidate Gene
Dungan SZ; Kosyakov A; Chang BS (2016)
Spectral Tuning of Killer Whale (Orcinus orca) Rhodopsin: Evidence for Positive Selection and Functi[...]
1 Additional References
GP00000785
RHO
P08100
Physiology
D83N + A292S both have phenotypic effect
Bos taurus
cattle - (species)
Orcinus orca
killer whale - (species) D
opsin - rhodopsin1 (RH1)
Orcinus orca
killer whale - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
African cichlids
(no rank)
Interspecific
Candidate Gene
Sugawara T; Terai Y; Imai H ; et al. (2005)
Parallelism of amino acid changes at the RH1 affecting spectral sensitivity among deep-water cichlid[...]
1 Additional References
GP00000786
RHO
P08100
Physiology
A292S and reversals; many independent cases
African cichlids
(no rank)
African cichlids
(no rank)
opsin - rhodopsin1 (RH1)
African cichlids
(no rank)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
3 Mutations:
Coding
SNP
Tursiops truncatus
bottlenose dolphin - (species)
Intergeneric or Higher
Candidate Gene
Fasick JI; Robsinson PR (1998)
Mechanism of spectral tuning in the dolphin visual pigments.
1 Additional References
GP00000787
RHO
P08100
Physiology
D83N; A292S; A299S
Mammalia
mammals - (class)
Tursiops truncatus
bottlenose dolphin - (species)
opsin - rhodopsin1 (RH1)
Tursiops truncatus
bottlenose dolphin - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Elephantidae
elephants - (family)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Takenaka N; Agnew DW ; et al. (2005)
Elephants and human color-blind deuteranopes have identical sets of visual pigments.
2 Additional References
GP00000788
RHO
P08100
Physiology
D83N
Mammalia
mammals - (class)
Elephantidae
elephants - (family)
opsin - rhodopsin1 (RH1)
Elephantidae
elephants - (family)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
Coding,
SNP
Physeteridae
sperm whales - (family)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
1 Additional References
GP00000789
RHO
P08100
Physiology
K195T
Cetacea
whales - (order)
Physeteridae
sperm whales - (family)
opsin - rhodopsin1 (RH1)
Physeteridae
sperm whales - (family)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Latimeria menadoensis
Menado coelacanth - (species) D
Latimeria chalumnae
coelacanth - (species) D
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T (2000)
Adaptive evolution of the African and Indonesian coelacanths to deep-sea environments.
GP00000790
RHO
P08100
Physiology
A292S; E122Q - both have an effect
Teleostei
teleost fishes - (infraclass)
Latimeria menadoensis
Menado coelacanth - (species) D
Latimeria chalumnae
coelacanth - (species) D
opsin - rhodopsin1 (RH1)
Latimeria menadoensis
Menado coelacanth - (species)
Latimeria chalumnae
coelacanth - (species)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (blue-shift)
2 Mutations:
Coding
SNP
Cetacea
whales - (order)
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000791
RHO
P08100
Physiology
D83N + A292S both have an effect
Mammalia
mammals - (class)
Cetacea
whales - (order)
opsin - rhodopsin1 (RH1)
Cetacea
whales - (order)
Published - Accepted by Curator
opsin - rhodopsin1 (RH1)
Color vision (red-shift)
Coding,
SNP
Aristostomias scintillans
shiny loosejaw - (species)
Intergeneric or Higher
Candidate Gene
Yokoyama S; Tada T; Zhang H ; et al. (2008)
Elucidation of phenotypic adaptations: Molecular analyses of dim-light vision proteins in vertebrate[...]
GP00000792
RHO
P08100
Physiology
D83N; M183F; M253L; F261Y; T289G; S292I; M317I - all together shift to red (see table S4 of Yokoyama PNAS) - individual changes not tested
Stomiidae
barbeled dragonfishes - (family)
Aristostomias scintillans
shiny loosejaw - (species)
opsin - rhodopsin1 (RH1)
Aristostomias scintillans
shiny loosejaw - (species)
Published - Accepted by Curator
opsin - rhodopsin1-A (RH1-A)
Color vision (blue shift)
3 Mutations:
Coding
SNP
Conger myriaster
whitespotted conger - (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.
2 Additional References
GP00000793
RHO
P08100
Physiology
P194N and N195A and A292S
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
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
1 Additional References
GP00000799
OR7D4
Q8NG98
Physiology
P79L
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
1 Additional References
GP00000800
OR7D4
Q8NG98
Physiology
R227G
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000801
OR7D4
Q8NG98
Physiology
T133M
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000802
OR7D4
Q8NG98
Physiology
S84N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Keller A; Zhuang H; Chi Q ; et al. (2007)
Genetic variation in a human odorant receptor alters odour perception.
GP00000803
OR7D4
Q8NG98
Physiology
R227G
Homininae
(subfamily)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OR7D4
Olfaction
Coding,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Zhuang H; Chien MS; Matsunami H (2009)
Dynamic functional evolution of an odorant receptor for sex-steroid-derived odors in primates.
1 Additional References
GP00000804
OR7D4
Q8NG98
Physiology
M273T
Homininae
(subfamily)
Homo sapiens
human - (species)
OR7D4
Homo sapiens
human - (species)
Published - Accepted by Curator
OsPPKL1/qGL3
Grain size
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Zhang X; Wang J; Huang J ; et al. (2012)
Rare allele of OsPPKL1 associated with grain length causes extra-large grain and a significant yield[...]
GP00000812
qLTG-3-1
B3IWI0
Morphology
Asp364Glu
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsPPKL1/qGL3
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsSPL14 / WFP
Grain yield
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Jiao Y; Wang Y; Xue D ; et al. (2010)
Regulation of OsSPL14 by OsmiR156 defines ideal plant architecture in rice.
GP00000813
IPA1
D8WJ58
Morphology
Point mutation resulting in altered binding of a micro-RNA
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsSPL14 / WFP
Oryza sativa
rice - (species)
Published - Accepted by Curator
OVATE
Fruit shape
Coding,
SNP
N
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Liu J; Van Eck J; Cong B ; et al. (2002)
A new class of regulatory genes underlying the cause of pear-shaped tomato fruit.
1 Additional References
GP00000815
Q8GSM4
Morphology
V164* caused by G>T; which leads to a 75-aa truncation in the C terminus of the predicted protein N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species)
OVATE
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Overdrive
Hybrid incompatibility (male F1 sterility)
Coding,
SNP
Drosophila pseudoobscura
(species)
Intraspecific
Linkage Mapping
Phadnis N; Orr HA (2009)
A single gene causes both male sterility and segregation distortion in Drosophila hybrids.
GP00000816
Ovd
Q2LZF7
Physiology
6 candidate non-synonymous changes - the effect of single amino acid changes has not been tested
Drosophila pseudoobscura
(species)
Drosophila pseudoobscura
(species)
Overdrive
Drosophila pseudoobscura
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Ranson H; Jensen B; Vulule JM ; et al. (2000)
Identification of a point mutation in the voltage-gated sodium channel gene of Kenyan Anopheles gamb[...]
GP00000818
para
P35500
Physiology
L1014S
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Martinez-Torres D; Chandre F; Williamson MS ; et al. (1998)
Molecular characterization of pyrethroid knockdown resistance (kdr) in the major malaria vector Anop[...]
GP00000819
para
P35500
Physiology
L1014F
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Jones CM; Liyanapathirana M; Agossa FR ; et al. (2012)
Footprints of positive selection associated with a mutation (N1575Y) in the voltage-gated sodium cha[...]
GP00000820
para
P35500
Physiology
N1575Y
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
para (kdr)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Anopheles sinensis
(species) D
Intraspecific
Candidate Gene
Tan WL; Wang ZM; Li CX ; et al. (2012)
First report on co-occurrence knockdown resistance mutations and susceptibility to beta-cypermethrin[...]
GP00000821
para
P35500
Physiology
L1014F
Anopheles sinensis
(species)
Anopheles sinensis
(species) D
para (kdr)
Anopheles sinensis
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Morin S; Williamson MS; Goodson SJ ; et al. (2002)
Mutations in the Bemisia tabaci para sodium channel gene associated with resistance to a pyrethroid [...]
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 [...]
1 Additional References
GP00000823
para
P35500
Physiology
M918V
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
para (kdr)
Bemisia tabaci
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Smith TJ; Lee SH; Ingles PJ ; et al. (1997)
The L1014F point mutation in the house fly Vssc1 sodium channel confers knockdown resistance to pyre[...]
2 Additional References
GP00000824
para
P35500
Physiology
L993F (=L1014F)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Liu Z; Valles SM; Dong K (2000)
Novel point mutations in the German cockroach para sodium channel gene are associated with knockdown[...]
2 Additional References
GP00000825
para
P35500
Physiology
C764R (=C785R)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Liu Z; Valles SM; Dong K (2000)
Novel point mutations in the German cockroach para sodium channel gene are associated with knockdown[...]
2 Additional References
GP00000826
para
P35500
Physiology
E434K (=E435K)
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
para (kdr)
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhipicephalus microplus
southern cattle tick - (species) D
Intraspecific
Candidate Gene
He H; Chen AC; Davey RB ; et al. (1999)
Identification of a point mutation in the para-type sodium channel gene from a pyrethroid-resistant [...]
2 Additional References
GP00000827
para
P35500
Physiology
F1538I
Rhipicephalus microplus
southern cattle tick - (species)
Rhipicephalus microplus
southern cattle tick - (species) D
para (kdr)
Rhipicephalus microplus
southern cattle tick - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Chen L; Zhong D; Zhang D ; et al. (2010)
Molecular ecology of pyrethroid knockdown resistance in Culex pipiens pallens mosquitoes.
1 Additional References
GP00000828
para
P35500
Physiology
L1014F
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
para (kdr)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Chen L; Zhong D; Zhang D ; et al. (2010)
Molecular ecology of pyrethroid knockdown resistance in Culex pipiens pallens mosquitoes.
1 Additional References
GP00000829
para
P35500
Physiology
L1014S
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
para (kdr)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cydia pomonella
codling moth - (species) D
Intraspecific
Candidate Gene
Franck P; Siegwart M; Olivares J ; et al. (2012)
Multiple origins of the sodium channel kdr mutations in codling moth populations.
GP00000830
para
P35500
Physiology
L1014F
Cydia pomonella
codling moth - (species)
Cydia pomonella
codling moth - (species) D
para (kdr)
Cydia pomonella
codling moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Linkage Mapping
Guerrero FD; Jamroz RC; Kammlah D ; et al. (1997 Aug-Sep)
Toxicological and molecular characterization of pyrethroid-resistant horn flies, Haematobia irritans[...]
GP00000831
para
P35500
Physiology
(=M918T)
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
para (kdr)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Linkage Mapping
Guerrero FD; Jamroz RC; Kammlah D ; et al. (1997 Aug-Sep)
Toxicological and molecular characterization of pyrethroid-resistant horn flies, Haematobia irritans[...]
3 Additional References
GP00000832
para
P35500
Physiology
L150F (=L1014F)
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
para (kdr)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Zhao Y; Park Y; Adams ME (2000)
Functional and evolutionary consequences of pyrethroid resistance mutations in S6 transmembrane segm[...]
1 Additional References
GP00000833
para
P35500
Physiology
L1029H (=position L1014)
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
para (kdr)
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Zhao Y; Park Y; Adams ME (2000)
Functional and evolutionary consequences of pyrethroid resistance mutations in S6 transmembrane segm[...]
2 Additional References
GP00000834
para
P35500
Physiology
V421M (=V410M)
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
para (kdr)
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
3 Additional References
GP00000835
para
P35500
Physiology
V421M (=V410M)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000836
para
P35500
Physiology
L1029H (= L1014H)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000837
para
P35500
Physiology
V421A (=V410A)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Linkage Mapping
Hopkins BW; Pietrantonio PV (2010)
The Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae) voltage-gated sodium channel and mutations ass[...]
GP00000838
para
P35500
Physiology
V421G (=V410G)
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
para (kdr)
Helicoverpa zea
corn earworm - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Weston DP; Poynton HC; Wellborn GA ; et al. (2013)
Multiple origins of pyrethroid insecticide resistance across the species complex of a nontarget aqua[...]
GP00000839
para
P35500
Physiology
L925I
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Hyalella azteca
(species) D
Intraspecific
Candidate Gene
Weston DP; Poynton HC; Wellborn GA ; et al. (2013)
Multiple origins of pyrethroid insecticide resistance across the species complex of a nontarget aqua[...]
GP00000840
para
P35500
Physiology
M918L
Hyalella azteca
(species)
Hyalella azteca
(species) D
para (kdr)
Hyalella azteca
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Rinkevich FD; Du Y; Dong K (2013)
Diversity and Convergence of Sodium Channel Mutations Involved in Resistance to Pyrethroids.
GP00000841
para
P35500
Physiology
L1014H
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
para (kdr)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Linkage Mapping
Miyazaki M; Ohyama K; Dunlap DY ; et al. (1996)
Cloning and sequencing of the para-type sodium channel gene from susceptible and kdr-resistant Germa[...]
GP00000842
para
P35500
Physiology
L1014F
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Linkage Mapping
Miyazaki M; Ohyama K; Dunlap DY ; et al. (1996)
Cloning and sequencing of the para-type sodium channel gene from susceptible and kdr-resistant Germa[...]
2 Additional References
GP00000843
para
P35500
Physiology
M918T
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
para (kdr)
Musca domestica
house fly - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Linkage Mapping
Martinez-Torres D; Foster SP; Field LM ; et al. (1999)
A sodium channel point mutation is associated with resistance to DDT and pyrethroid insecticides in [...]
3 Additional References
GP00000844
para
P35500
Physiology
L1014F
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Anstead JA; Williamson MS; Eleftherianos I ; et al. (2004)
High-throughput detection of knockdown resistance in Myzus persicae using allelic discriminating qua[...]
GP00000845
para
P35500
Physiology
(=M918T)
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
para (kdr)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Pediculus humanus
human louse - (species) D
Intraspecific
Linkage Mapping
Vais H; Williamson MS; Devonshire AL ; et al. (2001)
The molecular interactions of pyrethroid insecticides with insect and mammalian sodium channels.
GP00000846
para
P35500
Physiology
T929I
Pediculus humanus
human louse - (species)
Pediculus humanus
human louse - (species) D
para (kdr)
Pediculus humanus
human louse - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Pediculus humanus
human louse - (species) D
Intraspecific
Linkage Mapping
Usherwood PN; Davies TG; Mellor IR ; et al. (2007)
Mutations in DIIS5 and the DIIS4-S5 linker of Drosophila melanogaster sodium channel define binding [...]
1 Additional References
GP00000847
para
P35500
Physiology
L932F
Pediculus humanus
human louse - (species)
Pediculus humanus
human louse - (species) D
para (kdr)
Pediculus humanus
human louse - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Linkage Mapping
Smith TJ; Lee SH; Ingles PJ ; et al. (1997)
The L1014F point mutation in the house fly Vssc1 sodium channel confers knockdown resistance to pyre[...]
GP00000848
para
P35500
Physiology
L1014F
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Linkage Mapping
Usherwood PN; Davies TG; Mellor IR ; et al. (2007)
Mutations in DIIS5 and the DIIS4-S5 linker of Drosophila melanogaster sodium channel define binding [...]
GP00000849
para
P35500
Physiology
T929I
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
para (kdr)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Triatoma infestans
(species)
Intraspecific
Candidate Gene
Fabro J; Sterkel M; Capriotti N ; et al. (2012)
Identification of a point mutation associated with pyrethroid resistance in the para-type sodium cha[...]
GP00000850
para
P35500
Physiology
L1014F
Triatoma infestans
(species)
Triatoma infestans
(species)
para (kdr)
Triatoma infestans
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000851
para
P35500
Physiology
M918T
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000852
para
P35500
Physiology
T929I
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
para (kdr)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tuta absoluta
(species) D
Intraspecific
Candidate Gene
Haddi K; Berger M; Bielza P ; et al. (2012)
Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channe[...]
GP00000853
para
P35500
Physiology
L1014F
Tuta absoluta
(species)
Tuta absoluta
(species) D
para (kdr)
Tuta absoluta
(species)
Published - Accepted by Curator
Period (per)
Courtship song
Coding,
SNP
Drosophila simulans
(species)
Interspecific
Linkage Mapping
Wheeler DA; Kyriacou CP; Greenacre ML ; et al. (1991)
Molecular transfer of a species-specific behavior from Drosophila simulans to Drosophila melanogaste[...]
GP00000860
per
P07663
Behavior
A121T and/or K125R and/or E165D and /or V224A
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Period (per)
Drosophila simulans
(species)
Published - Accepted by Curator
PH4/GmMYB-G20-1
Coloration (flowers)
Coding,
SNP
N
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Takahashi R; Benitez ER; Oyoo ME ; et al. (2011 Jul-Aug)
Nonsense mutation of an MYB transcription factor is associated with purple-blue flower color in soyb[...]
GP00000862
PH4
Q2TCH0
Morphology
Substitution creating premature Stop (codon 158) N
Glycine max
soybean - (species)
Glycine max
soybean - (species)
PH4/GmMYB-G20-1
Glycine max
soybean - (species)
Published - Accepted by Curator
PHO84
Xenobiotic resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Perlstein EO; Ruderfer DM; Roberts DC ; et al. (2007)
Genetic basis of individual differences in the response to small-molecule drugs in yeast.
GP00000865
PHO84
P25297
Physiology
L259P
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO84
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
Coding,
SNP
Alloteropsis
(genus)
Interspecific
Candidate Gene
Christin PA; Edwards EJ; Besnard G ; et al. (2012)
Adaptive evolution of C(4) photosynthesis through recurrent lateral gene transfer.
GP00000866
PPCA
P30694
Physiology
Haplotype of several candidate a.a. ; lateral gene transfer between convergent C4 species
Alloteropsis
(genus)
Alloteropsis
(genus)
phosphoenolpyruvate carboxylase (PEPC)
Alloteropsis
(genus)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
2 Mutations:
Coding
SNP
N
Flaveria trinervia
(species)
Interspecific
Candidate Gene
Bläsing OE; Westhoff P; Svensson P (2000)
Evolution of C4 phosphoenolpyruvate carboxylase in Flaveria, a conserved serine residue in the carbo[...]
GP00000867
PPCA
P30694
Physiology
one important amino acid change in region 5: C3 plants: Ala274 and C4 plants: Ser274 - This single amino acid change was introduced by site-directed mutagenesis and shown to alter enzyme kinetics N
Flaveria pringlei
(species)
Flaveria trinervia
(species)
phosphoenolpyruvate carboxylase (PEPC)
Flaveria trinervia
(species)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
Cis-regulatory,
SNP
Flaveria trinervia
(species)
Interspecific
Candidate Gene
Akyildiz M; Gowik U; Engelmann S ; et al. (2007)
Evolution and function of a cis-regulatory module for mesophyll-specific gene expression in the C4 d[...]
GP00000869
PPCA
P30694
Physiology
G->A
Flaveria pringlei
(species)
Flaveria trinervia
(species)
phosphoenolpyruvate carboxylase (PEPC)
Flaveria trinervia
(species)
Published - Accepted by Curator
phytochrome A (PHYA)
Light sensitivity
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Maloof JN; Borevitz JO; Dabi T ; et al. (2001)
Natural variation in light sensitivity of Arabidopsis.
GP00000870
PHYA
P14712
Physiology
M548T
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
phytochrome A (PHYA)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytochrome 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 C (PHYC)
Light sensitivity
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Balasubramanian S; Sureshkumar S; Agrawal M ; et al. (2006)
The PHYTOCHROME C photoreceptor gene mediates natural variation in flowering and growth responses of[...]
GP00000873
PHYC
P14714
Physiology
K299*; the predicted Fr-2 PHYC protein therefore lacks half of the GAF domain; and the entire PHY; PAS and histidine kinase domains; all of which are typically required for phytochrome function N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
phytochrome C (PHYC)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Pi-ta
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Bryan GT; Wu KS; Farrall L ; et al. (2000)
tA single amino acid difference distinguishes resistant and susceptible alleles of the rice blast re[...]
1 Additional References
GP00000876
Pi-ta
C9E6G5
Physiology
Ala918Ser
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi-ta
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi36
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Liu X; Lin F; Wang L ; et al. (2007)
The in silico map-based cloning of Pi36, a rice coiled-coil nucleotide-binding site leucine-rich rep[...]
GP00000878
Pi36
D5J6W0
Physiology
Asp590Ser
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi36
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pi37
Pathogen resistance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Lin F; Chen S; Que Z ; et al. (2007)
The blast resistance gene Pi37 encodes a nucleotide binding site leucine-rich repeat protein and is [...]
GP00000879
Pi37
Q06AJ9
Physiology
V239A and I247M are the only amino acid substitutions found in all tested resistant strains- the effect of each individual amino acid change has not been tested
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Pi37
Oryza sativa
rice - (species)
Published - Accepted by Curator
plep-1
Male-male copulatory behavior
Coding,
SNP
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Noble LM; Chang AS; McNelis D ; et al. (2015)
Natural Variation in plep-1 Causes Male-Male Copulatory Behavior in C. elegans.
GP00000897
plep-1
A0A0K3AR66
Behavior
V278D
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
plep-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Pm3
Pathogen resistance
Coding,
SNP
Triticum aestivum
bread wheat - (species)
Interspecific
Linkage Mapping
Yahiaoui N; Kaur N; Keller B (2009)
Independent evolution of functional Pm3 resistance genes in wild tetraploid wheat and domesticated b[...]
GP00000899
PM3
C1K3M2
Physiology
Various substitution haplotypes - exact causing amino acid change(s) unknown - in hexaploid bread wheat one amino acid change in a solvent‐exposed residue of LRR27 (E1334 to V1334) was sufficient to convert the susceptible Pm3CS into a functional resistance allele (Yahiaoui et al., 2006).
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Pm3
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000900
PMA1
P05030
Physiology
Leu363Trp
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
2 Additional References
GP00000901
PMA1
P05030
Physiology
Ser234Cys
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
2 Additional References
GP00000902
PMA1
P05030
Physiology
Val127Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000903
PMA1
P05030
Physiology
Val157Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000904
PMA1
P05030
Physiology
Gly294Val
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000905
PMA1
P05030
Physiology
Gly337Ser
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000906
PMA1
P05030
Physiology
Met530Iso
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000907
PMA1
P05030
Physiology
Pro535Thr
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000908
PMA1
P05030
Physiology
Iso564Thr
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000909
PMA1
P05030
Physiology
Ala732Val
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMA1
Salt tolerance (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000910
PMA1
P05030
Physiology
Trp750Cys
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
PMR1
Metal tolerance (manganese)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Sadhu MJ; Bloom JS; Day L ; et al. (2016)
CRISPR-directed mitotic recombination enables genetic mapping without crosses.
GP00000914
PMR1
P13586
Physiology
Leu548Phe
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
PMR1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
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.
1 Additional References
GP00000919
PPARD
Q03181
Morphology
Morphology
G32E
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
PPAR-delta
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
PpeGID1c
Plant size (dwarfism)
Coding,
SNP
N
Prunus persica
peach - (species) D
Domesticated
Linkage Mapping
Hollender CA; Hadiarto T; Srinivasan C ; et al. (2016)
A brachytic dwarfism trait (dw) in peach trees is caused by a nonsense mutation within the gibberell[...]
GP00000920
GID1C
Q940G6
Morphology
Trp162* (TGG>TAG) N
Prunus persica
peach - (species)
Prunus persica
peach - (species) D
PpeGID1c
Prunus persica
peach - (species)
Published - Accepted by Curator
prodynorphin (PDYN)
Neuroendocronological homeostasis
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Rockman MV; Hahn MW; Soranzo N ; et al. (2005)
Ancient and recent positive selection transformed opioid cis-regulation in humans.
GP00000924
PDYN
P01213
Physiology
up to 5 polymorphisms in 5' regulatory region
Primates
(order)
Homo sapiens
human - (species)
prodynorphin (PDYN)
Homo sapiens
human - (species)
Published - Accepted by Curator
Prolactin (deciduous Prolactin; dPRL)
Gene expression change (quantitative; increase)
Cis-regulatory,
SNP
Homininae
(subfamily)
Intergeneric or Higher
Candidate Gene
Emera D; Wagner GP (2012)
Transformation of a transposon into a derived prolactin promoter with function during human pregnanc[...]
2 Additional References
GP00000926
PRL
P01236
Physiology
Acquisition of enhancer activity in transposons via several base-pair substitutions
Primates
(order)
Homininae
(subfamily)
Prolactin (deciduous Prolactin; dPRL)
Homininae
(subfamily)
Published - Accepted by Curator
Prolactin receptor
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Candidate Gene
Viitala S; Szyda J; Blott S ; et al. (2006)
The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...]
GP00000927
PRLR
P16471
Physiology
Ser18Asn
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
Prolactin receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37 (SbPRR37)
Flowering time
Coding,
SNP
N
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Murphy RL; Klein RR; Morishige DT ; et al. (2011)
Coincident light and clock regulation of pseudoresponse regulator protein 37 (PRR37) controls photop[...]
GP00000931
PRR37
Q0D3B6
Physiology
K162N + G270* N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
PRR37 pseudoresponse regulator protein 37 (SbPRR37)
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
PRR37 pseudoresponse regulator protein 37 (SbPRR37)
Flowering time
Coding,
SNP
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Murphy RL; Klein RR; Morishige DT ; et al. (2011)
Coincident light and clock regulation of pseudoresponse regulator protein 37 (PRR37) controls photop[...]
GP00000932
PRR37
Q0D3B6
Physiology
K162N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
PRR37 pseudoresponse regulator protein 37 (SbPRR37)
Sorghum bicolor
sorghum - (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
Val49Gly
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
PSMB7
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Q = wheat AP2-like (WAP2)
Inflorescence morphology
Spike morphology
Coding,
SNP
Triticum turgidum
(species)
Domesticated
Linkage Mapping
Simons KJ; Fellers JP; Trick HN ; et al. (2006)
Molecular characterization of the major wheat domestication gene Q.
GP00000940
WANT1
C1PH82
Morphology
Morphology
V329I
Triticum turgidum
(species)
Triticum turgidum
(species)
Q = wheat AP2-like (WAP2)
Triticum turgidum
(species)
Published - Accepted by Curator
qSH1
Seed shattering
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Konishi S; Izawa T; Lin SY ; et al. (2006)
An SNP caused loss of seed shattering during rice domestication.
GP00000942
qSH1
Q941S9
Physiology
1bp change
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
qSH1
Oryza sativa
rice - (species)
Published - Accepted by Curator
qSH1 (REPLUMLESS)
Seed shattering
Cis-regulatory,
SNP
Brassicaceae
mustard family - (family)
Interspecific
Candidate Gene
Arnaud N; Lawrenson T; Østergaard L ; et al. (2011)
The same regulatory point mutation changed seed-dispersal structures in evolution and domestication.
GP00000943
qSH1
Q941S9
Physiology
1bp change
Brassicaceae
mustard family - (family)
Brassicaceae
mustard family - (family)
qSH1 (REPLUMLESS)
Brassicaceae
mustard family - (family)
Published - Accepted by Curator
R/glyma09g36983
Coloration (seeds)
Coding,
SNP
N
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Gillman JD; Tetlow A; Lee JD ; et al. (2011)
Loss-of-function mutations affecting a specific Glycine max R2R3 MYB transcription factor result in [...]
GP00000946
100780023
K7LFP2
Morphology
C377- creating premature Stop N
Glycine max
soybean - (species)
Glycine max
soybean - (species)
R/glyma09g36983
Glycine max
soybean - (species)
Published - Accepted by Curator
RAD5
Xenobiotic resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Demogines A; Smith E; Kruglyak L ; et al. (2008)
Identification and dissection of a complex DNA repair sensitivity phenotype in Baker's yeast.
GP00000950
RAD5
P32849
Physiology
I791S
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
RAD5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
1 Additional References
GP00000952
RAS2
P01120
Physiology
Glu>Ala (A>C mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS1
Salt tolerance
Abscisic acid sensitivity
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ren Z; Zheng Z; Chinnusamy V ; et al. (2010)
RAS1, a quantitative trait locus for salt tolerance and ABA sensitivity in Arabidopsis.
GP00000953
RAS1
O04515
Physiology
Physiology
Premature stop codon; Lys>STOP N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RAS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RAS2
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000954
RAS2
P01120
Physiology
Gly>Ser (C>T mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RAS2
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kohn LM; Anderson JB (2014)
The underlying structure of adaptation under strong selection in 12 experimental yeast populations.
GP00000955
RAS2
P01120
Physiology
Glu>Gln (C>G mutation)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Rc
Coloration (seed)
Coding,
SNP
N
Oryza glaberrima
African rice - (species)
Domesticated
Candidate Gene
Gross BL; Steffen FT; Olsen KM (2010)
The molecular basis of white pericarps in African domesticated rice: novel mutations at the Rc gene.
GP00000958
Rc
A7J5U6
Morphology
Premature stop codon in exon 7 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,
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.
GP00000960
Rc
A7J5U6
Morphology
substitution; C->A in exon 6; introduces a premature stop codon that truncates the protein before the bHLH domain N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Rc
Oryza sativa
rice - (species)
Published - Accepted by Curator
RCR3
Pathogen resistance
Coding,
SNP
Solanum peruvianum
(species)
Intraspecific
Candidate Gene
Hörger AC; Ilyas M; Stephan W ; et al. (2012)
Balancing selection at the tomato RCR3 Guardee gene family maintains variation in strength of pathog[...]
GP00000963
Rcr3
Q8S333
Physiology
Candidate amino acid changes are I206K and/or Q222E and/or S330A
Solanum peruvianum
(species)
Solanum peruvianum
(species)
RCR3
Solanum peruvianum
(species)
Published - Accepted by Curator
Rds2
Oxidative stress resistance
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Diezmann S; Dietrich FS (2011)
Oxidative stress survival in a clinical Saccharomyces cerevisiae isolate is influenced by a major qu[...]
GP00000964
RDS2
P19541
Physiology
H251D
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
Rds2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Reduced height-B1 (RhtB1)
Plant size (dwarfism)
Coding,
SNP
N
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Peng J; Richards DE; Hartley NM ; et al. (1999)
'Green revolution' genes encode mutant gibberellin response modulators.
GP00000965
D8
Q9ST48
Morphology
Q64*; TGA>CGA N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Reduced height-B1 (RhtB1)
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Reduced height-D1 (RhtD1)
Plant size (dwarfism)
Coding,
SNP
N
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Peng J; Richards DE; Hartley NM ; et al. (1999)
'Green revolution' genes encode mutant gibberellin response modulators.
GP00000966
D8
Q9ST48
Morphology
E61*; GGA>TGA N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Reduced height-D1 (RhtD1)
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Thompson M; Shotkoski F; ffrench-Constant R (1993)
Cloning and sequencing of the cyclodiene insecticide resistance gene from the yellow fever mosquito [...]
GP00000968
Rdl
P25123
Physiology
Ala302Ser
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
resistance to dieldrin
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles arabiensis
(species) D
Intraspecific
Candidate Gene
Du W; Awolola TS; Howell P ; et al. (2005)
Independent mutations in the Rdl locus confer dieldrin resistance to Anopheles gambiae and An. arabi[...]
GP00000969
Rdl
P25123
Physiology
Ala302Ser
Anopheles arabiensis
(species)
Anopheles arabiensis
(species) D
resistance to dieldrin
Anopheles arabiensis
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Du W; Awolola TS; Howell P ; et al. (2005)
Independent mutations in the Rdl locus confer dieldrin resistance to Anopheles gambiae and An. arabi[...]
GP00000970
Rdl
P25123
Physiology
Ala302Gly
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
resistance to dieldrin
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Alon M; Alon F; Nauen R ; et al. (2008)
Organophosphates' resistance in the B-biotype of Bemisia tabaci (Hemiptera: Aleyrodidae) is associat[...]
GP00000971
Rdl
P25123
Physiology
Ala302Ser
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
resistance to dieldrin
Bemisia tabaci
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Blattella germanica
German cockroach - (species) D
Intraspecific
Candidate Gene
Kaku K; Matsumura F (1994)
Identification of the site of mutation within the M2 region of the GABA receptor of the cyclodiene-r[...]
GP00000972
Rdl
P25123
Physiology
Ala302Ser
Blattella germanica
German cockroach - (species)
Blattella germanica
German cockroach - (species) D
resistance to dieldrin
Blattella germanica
German cockroach - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Ctenocephalides felis
cat flea - (species) D
Intraspecific
Candidate Gene
Bass C; Schroeder I; Turberg A ; et al. (2004)
Identification of the Rdl mutation in laboratory and field strains of the cat flea, Ctenocephalides [...]
GP00000973
Rdl
P25123
Physiology
Ala302Ser
Ctenocephalides felis
cat flea - (species)
Ctenocephalides felis
cat flea - (species) D
resistance to dieldrin
Ctenocephalides felis
cat flea - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Ffrench-Constant RH; Rocheleau TA; Steichen JC ; et al. (1993)
A point mutation in a Drosophila GABA receptor confers insecticide resistance.
GP00000974
Rdl
P25123
Physiology
Ala302Ser
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
resistance to dieldrin
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila simulans
(species)
Intraspecific
Candidate Gene
Lee HJ; Rocheleau T; Zhang HG ; et al. (1993)
Expression of a Drosophila GABA receptor in a baculovirus insect cell system. Functional expression [...]
2 Additional References
GP00000975
Rdl
P25123
Physiology
Ala302Ser
Drosophila simulans
(species)
Drosophila simulans
(species)
resistance to dieldrin
Drosophila simulans
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila simulans
(species)
Intraspecific
Candidate Gene
Lee HJ; Rocheleau T; Zhang HG ; et al. (1993)
Expression of a Drosophila GABA receptor in a baculovirus insect cell system. Functional expression [...]
1 Additional References
GP00000976
Xmrk-2
Q91389
Physiology
Ala302Gly
Drosophila simulans
(species)
Drosophila simulans
(species)
resistance to dieldrin
Drosophila simulans
(species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Hypothenemus hampei
coffee berry borer - (species) D
Intraspecific
Candidate Gene
Brun LO; Stuart J; Gaudichon V ; et al. (1995)
Functional haplodiploidy: a mechanism for the spread of insecticide resistance in an important inter[...]
1 Additional References
GP00000977
Rdl
P25123
Physiology
Ala302Ser
Hypothenemus hampei
coffee berry borer - (species)
Hypothenemus hampei
coffee berry borer - (species) D
resistance to dieldrin
Hypothenemus hampei
coffee berry borer - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Thompson M; Steichen JC; ffrench-Constant RH (1993)
Conservation of cyclodiene insecticide resistance-associated mutations in insects.
GP00000978
Rdl
P25123
Physiology
Ala302Ser
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
resistance to dieldrin
Musca domestica
house fly - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Anthony N; Unruh T; Ganser D ; et al. (1998)
Duplication of the Rdl GABA receptor subunit gene in an insecticide-resistant aphid, Myzus persicae.
GP00000979
Rdl
P25123
Physiology
Ala302Gly
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
resistance to dieldrin
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Periplaneta americana
American cockroach - (species) D
Intraspecific
Candidate Gene
Thompson M; Steichen JC; ffrench-Constant RH (1993)
Conservation of cyclodiene insecticide resistance-associated mutations in insects.
GP00000980
Rdl
P25123
Physiology
Ala302Ser
Periplaneta americana
American cockroach - (species)
Periplaneta americana
American cockroach - (species) D
resistance to dieldrin
Periplaneta americana
American cockroach - (species)
Published - Accepted by Curator
resistance to dieldrin
Xenobiotic resistance (insecticide)
Coding,
SNP
Tribolium castaneum
red flour beetle - (species)
Intraspecific
Candidate Gene
Miyazaki M; Matsumura F; Beeman RW (1995)
DNA sequence and site of mutation of the GABA receptor of cyclodiene-resistant red flour beetle, Tri[...]
GP00000981
Rdl
P25123
Physiology
Ala302Ser
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species)
resistance to dieldrin
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
resistant to methyl viologen 1 (RMV1)
Polyamine uptake
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Fujita M; Fujita Y; Iuchi S ; et al. (2012)
Natural variation in a polyamine transporter determines paraquat tolerance in Arabidopsis.
1 Additional References
GP00000982
RMV1
Q9FFL1
Physiology
Ile377Phe N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
resistant to methyl viologen 1 (RMV1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
retr02/eIF(iso)4E
Pathogen resistance (plant virus)
Coding,
SNP
Brassica rapa
field mustard - (species) D
Domesticated
Linkage Mapping
Qian W; Zhang S; Zhang S ; et al. (2013)
Mapping and candidate-gene screening of the novel Turnip mosaic virus resistance gene retr02 in Chin[...]
GP00000983
EIF(ISO)4E
O04663
Physiology
G152R
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species) D
retr02/eIF(iso)4E
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
ribonuclease 1B (RNase1B)
Optimal enzymatic pH
Coding,
SNP
Pygathrix nemaeus
Red shanked douc langur - (species) D
Intergeneric or Higher
Candidate Gene
Zhang J (2006)
Parallel adaptive origins of digestive RNases in Asian and African leaf monkeys.
1 Additional References
GP00000987
RNASE1B
Q8SPN3
Physiology
R4Q; K6E; R39W - these three amino acid are sufficient to change the properties of the enzyme - no test of single amino acid changes
Primates
(order)
Pygathrix nemaeus
Red shanked douc langur - (species) D
ribonuclease 1B (RNase1B)
Pygathrix nemaeus
Red shanked douc langur - (species)
Published - Accepted by Curator
ribonuclease 1B (RNase1B)
Optimal enzymatic pH
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
The three amino acid changes R4Q K6E R39W have a phenotypic effect in combination - the effect of a single amino acid change has not been tested
Primates
(order)
Colobus guereza
mantled guereza - (species)
ribonuclease 1B (RNase1B)
Colobus guereza
mantled guereza - (species)
Published - Accepted by Curator
RPS2
Pathogen resistance
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Caicedo AL; Schaal BA; Kunkel BN (1999)
Diversity and molecular evolution of the RPS2 resistance gene in Arabidopsis thaliana.
GP00001012
RPS2
Q42484
Physiology
W235* due to G704A N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RPS2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RRS1
Pathogen resistance
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Narusaka M; Shirasu K; Noutoshi Y ; et al. (2009)
RRS1 and RPS4 provide a dual Resistance-gene system against fungal and bacterial pathogens.
1 Additional References
GP00001015
RRS1
P0DKH5
Physiology
Premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
RRS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
RSF1
Sporulation efficiency
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
1 Additional References
GP00001016
HFR1
Q9FE22
Physiology
D181G
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
RSF1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
S5
Hybrid incompatibility (F1 female sterility)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Chen J; Ding J; Ouyang Y ; et al. (2008)
A triallelic system of S5 is a major regulator of the reproductive barrier and compatibility of indi[...]
1 Additional References
GP00001020
GRXS5
Q5QLR2
Physiology
2 non-synonymous changes Leu273Phe and Val471Ala segregate perfectly between japonica (Leu-Val) and japonica (Phe-Ala) - the effect of each amino acid chaeg has not been tested
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
S5
Oryza sativa
rice - (species)
Published - Accepted by Curator
SBNO1
Head size
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Taal HR; Pourcain BS; Thiering E ; et al. (2012)
Common variants at 12q15 and 12q24 are associated with infant head circumference.
1 Additional References
GP00001023
SBNO1
A3KN83
Morphology
Ser729Asn
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SBNO1
Homo sapiens
human - (species)
Published - Accepted by Curator
scd-2
Diapause
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Reiner DJ; Ailion M; Thomas JH ; et al. (2008)
C. elegans anaplastic lymphoma kinase ortholog SCD-2 controls dauer formation by modulating TGF-beta[...]
GP00001026
scd-2
O76411
Physiology
Gly985Arg
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
scd-2
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (height)
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Asano K; Yamasaki M; Takuno S ; et al. (2011)
Artificial selection for a green revolution gene during japonica rice domestication.
GP00001027
GA20OX2
Q0JH50
Morphology
G100E
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
3 Additional References
GP00001029
GA20OX2
Q0JH50
Morphology
G94V
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
GP00001030
GA20OX2
Q0JH50
Morphology
D349H
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
Sd1 (=GA20ox-2)
Plant size (dwarfism)
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Candidate Gene
Sasaki A; Ashikari M; Ueguchi-Tanaka M ; et al. (2002)
Green revolution: a mutant gibberellin-synthesis gene in rice.
GP00001031
GA20OX2
Q0JH50
Morphology
L266F
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Sd1 (=GA20ox-2)
Oryza sativa
rice - (species)
Published - Accepted by Curator
self-pruning (sp)
Vegetative/Reproductive state switch
Coding,
SNP
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Pnueli L; Carmel-Goren L; Hareven D ; et al. (1998)
The SELF-PRUNING gene of tomato regulates vegetative to reproductive switching of sympodial meristem[...]
GP00001035
SP
O82088
Morphology
P76L due to CCT->CTT
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
self-pruning (sp)
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Shattering1 - 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
shattering4 - sh4
Seed shattering
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Li C; Zhou A; Sang T (2006)
Rice domestication by reducing shattering.
GP00001046
sh4
Q1PIH9
Physiology
Asp -> Lys
Oryza rufipogon
(species)
Oryza sativa
rice - (species)
shattering4 - sh4
Oryza sativa
rice - (species)
Published - Accepted by Curator
SHELL
Fruit shell thickness
Coding,
SNP
Elaeis guineensis
African oil palm - (species)
Domesticated
Linkage Mapping
Singh R; Low ET; Ooi LC ; et al. (2013)
The oil palm SHELL gene controls oil yield and encodes a homologue of SEEDSTICK.
GP00001047
AGL11
Q38836
Morphology
1a.a substitution in DNA binding domain
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species)
SHELL
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
SHELL
Fruit shell thickness
Coding,
SNP
Elaeis guineensis
African oil palm - (species)
Domesticated
Candidate Gene
Singh R; Low ET; Ooi LC ; et al. (2013)
The oil palm SHELL gene controls oil yield and encodes a homologue of SEEDSTICK.
GP00001048
AGL11
Q38836
Morphology
1a.a substitution in DNA binding domain
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species)
SHELL
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
SHMT / Rgh4
Pathogen resistance (cyst nematode; parasite) (cyst nematode)
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Liu S; Kandoth PK; Warren SD ; et al. (2012)
A soybean cyst nematode resistance gene points to a new mechanism of plant resistance to pathogens.
GP00001049
SHMT
K4FZF8
Physiology
R130P and Y358N
Glycine max
soybean - (species)
Glycine max
soybean - (species)
SHMT / Rgh4
Glycine max
soybean - (species)
Published - Accepted by Curator
SIR2
Longevity
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00001054
SIR2
P06700
Physiology
1 to 5 amino-acid substitutions
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
SIR2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SKC1 =OsHKT1
Salt tolerance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ren ZH; Gao JP; Li LG ; et al. (2005)
A rice quantitative trait locus for salt tolerance encodes a sodium transporter.
GP00001055
HKT8
A2WNZ9
Physiology
1-4 missense mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
SKC1 =OsHKT1
Oryza sativa
rice - (species)
Published - Accepted by Curator
SLC24A5 (NCKX5)
Coloration (eyes; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Lamason RL; Mohideen MA; Mest JR ; et al. (2005)
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.
GP00001056
Slc24a5
Q8C261
Morphology
Ala111Thr
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC24A5 (NCKX5)
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; coat)
Coding,
SNP
Equus caballus
horse - (species)
Intraspecific
Candidate Gene
Mariat D; Taourit S; Guérin G (2003 Jan-Feb)
A mutation in the MATP gene causes the cream coat colour in the horse.
5 Additional References
GP00001057
SLC45A2
Q9UMX9
Morphology
N153D
Equus caballus
horse - (species)
Equus caballus
horse - (species)
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; fur)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001058
SLC45A2
Q9UMX9
Morphology
G->T transversion at the splice acceptor site just preceding exon 4; causes in-frame skipping of exon 4
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
SLC45A2=MATP
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; fur)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Linkage Mapping
Du J; Fisher DE (2002)
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF.
GP00001060
SLC45A2
Q9UMX9
Morphology
N153D
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
SLC45A2=MATP
Mus musculus
house mouse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Graf J; Hodgson R; van Daal A (2005)
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation varia[...]
GP00001061
SLC45A2
Q9UMX9
Morphology
Phe374Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC45A2=MATP
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
3 Additional References
GP00001062
SLC45A2
Q9UMX9
Morphology
His341Arg
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SLC45A2=MATP
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (fur)
Coding,
SNP
Panthera tigris
tiger - (species)
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)
SLC45A2=MATP
Panthera tigris
tiger - (species)
Published - Accepted by Curator
sugary 1 (su1) = isoamylase-type starch-debranching enzymes
Fruit sugar content
Coding,
SNP
Zea mays
(species)
Domesticated
Candidate Gene
Dinges JR; Colleoni C; Myers AM ; et al. (2001)
Molecular structure of three mutations at the maize sugary1 locus and their allele-specific phenotyp[...]
GP00001082
sugary1
O22637
Physiology
F163L and/or W578R; W738R is more likely to be the mutation responsible as it affect a residue conserved in plants and bacteria
Zea mays
(species)
Zea mays
(species)
sugary 1 (su1) = isoamylase-type starch-debranching enzymes
Zea mays
(species)
Published - Accepted by Curator
SVP (SHORT VEGETATIVE PHASE)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Méndez-Vigo B; Martínez-Zapater JM; Alonso-Blanco C (2013)
The flowering repressor SVP underlies a novel Arabidopsis thaliana QTL interacting with the genetic [...]
1 Additional References
GP00001087
SVP
Q9FVC1
Physiology
Ala32Val
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
SVP (SHORT VEGETATIVE PHASE)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Linkage Mapping
Coste A; Turner V; Ischer F ; et al. (2006)
A mutation in Tac1p, a transcription factor regulating CDR1 and CDR2, is coupled with loss of hetero[...]
GP00001090
TAC1
A7IZW4
Physiology
N977D
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001094
TAC1
A7IZW4
Physiology
G980E
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001095
TAC1
A7IZW4
Physiology
A736V
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAC1
Xenobiotic resistance (drug)
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Association Mapping
Coste A; Selmecki A; Forche A ; et al. (2007)
Genotypic evolution of azole resistance mechanisms in sequential Candida albicans isolates.
GP00001096
TAC1
A7IZW4
Physiology
T225A
Candida albicans
(species)
Candida albicans
(species) D
TAC1
Candida albicans
(species)
Published - Accepted by Curator
TAO3
Sporulation efficiency
Cis-regulatory,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Deutschbauer AM; Davis RW (2005)
Quantitative trait loci mapped to single-nucleotide resolution in yeast.
1 Additional References
GP00001103
TAO3
P40468
Physiology
E1493Q
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
TAO3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
TaPHS1
Seed dormancy
Coding,
SNP
N
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Liu S; Sehgal SK; Li J ; et al. (2013)
Cloning and characterization of a critical regulator for preharvest sprouting in wheat.
GP00001104
PHS1
D2J2Y0
Physiology
GT-to-AT transition at the 5_ donor splice site (position +646) of intron 3 AND Premature Stop Codon (position +666) N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
TaPHS1
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Taqpep
Coloration (coat)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001106
Lvrn
Q2KHK3
Morphology
A/T139N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Taqpep
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Taqpep
Coloration (coat)
Coding,
SNP
N
Felis catus
domestic cat - (species)
Intraspecific
Candidate Gene
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001107
Lvrn
Q2KHK3
Morphology
S59stop N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species)
Taqpep
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Taqpep
Coloration (coat)
Coding,
SNP
N
Felis catus
domestic cat - (species)
Intraspecific
Linkage Mapping
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001108
Lvrn
Q2KHK3
Morphology
W841stop N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species)
Taqpep
Felis catus
domestic cat - (species)
Published - Accepted by Curator
TAS1R3
Taste sensitivity (sugar)
Coding,
SNP
Mus musculus
house mouse - (species)
Intraspecific
Linkage Mapping
Max M; Shanker YG; Huang L ; et al. (2001)
Tas1r3, encoding a new candidate taste receptor, is allelic to the sweet responsiveness locus Sac.
GP00001110
TAS1R3
Q7RTX0
Physiology
I60T; is predicted to introduce a novel N-linked glycosylation site which might interfere with receptor dimerization
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
TAS1R3
Mus musculus
house mouse - (species)
Published - Accepted by Curator
TAS2R38
Taste sensitivity (bitter)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kim UK; Jorgenson E; Coon H ; et al. (2003)
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthioc[...]
1 Additional References
GP00001111
TAS2R38
P59533
Physiology
P49A and/or A262V and/or V296I
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TAS2R38
Homo sapiens
human - (species)
Published - Accepted by Curator
TAS2R38
Taste sensitivity (bitter)
Coding,
SNP
Pan troglodytes
chimpanzee - (species)
Intraspecific
Candidate Gene
Wooding S; Bufe B; Grassi C ; et al. (2006)
Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
1 Additional References
GP00001112
TAS2R38
P59533
Physiology
M1R; eliminates start codon; protein initiates at later Met. Protein apparently null for signalling
Pan troglodytes
chimpanzee - (species)
Pan troglodytes
chimpanzee - (species)
TAS2R38
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
TBX15
Ear shape
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Adhikari K; Reales G; Smith AJ ; et al. (2015)
A genome-wide association study identifies multiple loci for variation in human ear morphology.
GP00001113
TBX15
Q96SF7
Morphology
Tbx15 enhancer variation including rs17023457 T or C alleles that affect CART1 binding on a conserved site
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TBX15
Homo sapiens
human - (species)
Published - Accepted by Curator
teosinte glume architecture (tga1)
Cupule retraction
Coding,
SNP
Zea mays
(species)
Domesticated
Linkage Mapping
Wang H; Nussbaum-Wagler T; Li B ; et al. (2005)
The origin of the naked grains of maize.
GP00001118
TGA1
Q39237
Morphology
K6N; the lysine residue being conserved in rice and wheat
Zea mays
(species)
Zea mays
(species)
teosinte glume architecture (tga1)
Zea mays
(species)
Published - Accepted by Curator
TFL1 / HvCEN
Growth determination habit
Coding,
SNP
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Comadran J; Kilian B; Russell J ; et al. (2012)
Natural variation in a homolog of Antirrhinum CENTRORADIALIS contributed to spring growth habit and [...]
GP00001119
TFL1
P93003
Physiology
P135A
Hordeum vulgare
(species)
Hordeum vulgare
(species)
TFL1 / HvCEN
Hordeum vulgare
(species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001121
TFL1
P93003
Physiology
R62S
Glycine max
soybean - (species)
Glycine max
soybean - (species)
TFL1/GmTFL1
Glycine max
soybean - (species)
Published - Accepted by Curator
TFL1/GmTFL1
Growth determination habit
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Candidate Gene
Tian Z; Wang X; Lee R ; et al. (2010)
Artificial selection for determinate growth habit in soybean.
GP00001122
TFL1
P93003
Physiology
P113L
Glycine max
soybean - (species)
Glycine max
soybean - (species)