ABCA1
Coloration (feathers)
Cholesterol metabolism
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Attie AD; Hamon Y; Brooks-Wilson AR ; et al. (2002)
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of t[...]
GP00001682
Abca1
P41233
Morphology; Physiology
Morphology; Physiology
amino acid substitution at a residue that is conserved in the ABCA1 gene between human; mouse; chicken; and Takifugu rubripes. Generation of a mouse ABCA1 protein with the mutation disrupts protein function. N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
ABCA1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
ABCC11
Apocrine secretion (ear wax type ; axillary odor)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Yoshiura K; Kinoshita A; Ishida T ; et al. (2006)
A SNP in the ABCC11 gene is the determinant of human earwax type.
1 Additional References
GP00000010
ABCC11
Q96J66
Physiology
1 a.a. polymorphism considered best candidate - c.538G>A - G180R in the ATP-binding cassette
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABCC11
Homo sapiens
human - (species)
Published - Accepted by Curator
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)
two nucleotide substitutions at nt. 526 and nt. 802. The authors have not examined whether both amino acid substitutions are necessary to disrupt the enzymatic activity or if one of them is sufficient. Nevertheless they assume that the single amino acid substitution at aa. 268 (glycine+arginine) may be crucial for their nullifying effect.
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
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
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; cyclic ketoenol)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Lueke B; Douris V; Hopkinson JE ; et al. (2020)
Identification and functional characterization of a novel acetyl-CoA carboxylase mutation associated[...]
1 Additional References
GP00002513
ACC
Q7JV23
Physiology
A2083V
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
acetyl-CoA carboxylase (ACC)
Bemisia tabaci
(species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spiromesifen)
Coding,
SNP
Trialeurodes vaporariorum
greenhouse whitefly - (species) D
Intraspecific
Candidate Gene
Karatolos N; Williamson MS; Denholm I ; et al. (2012)
Resistance to spiromesifen in Trialeurodes vaporariorum is associated with a single amino acid repla[...]
1 Additional References
GP00002556
ACC
Q7JV23
Physiology
E645K
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Trialeurodes vaporariorum
greenhouse whitefly - (species) D
acetyl-CoA carboxylase (ACC)
Trialeurodes vaporariorum
greenhouse whitefly - (species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Singh KS; Cordeiro EMG; Troczka BJ ; et al. (2021)
Global patterns in genomic diversity underpinning the evolution of insecticide resistance in the aph[...]
GP00002616
ACC
Q7JV23
Physiology
a single non-synonymous mutation (gCt > gTt) resulting in an alanine to valine substitution in a highly conserved region of the ACC carboxyltransferase (CT) domain
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
acetyl-CoA carboxylase (ACC)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Caenorhabditis elegans
(species) D
Experimental Evolution
Linkage Mapping
Guest M; Kriek N; Flemming AJ (2020)
Studies of an insecticidal inhibitor of acetyl-CoA carboxylase in the nematode C. elegans.
GP00002617
ACC
Q7JV23
Physiology
A1559V
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
acetyl-CoA carboxylase (ACC)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
acetyl-CoA carboxylase (ACC)
Xenobiotic resistance (insecticide; spirotetramat)
Coding,
SNP
Caenorhabditis elegans
(species) D
Experimental Evolution
Linkage Mapping
Guest M; Kriek N; Flemming AJ (2020)
Studies of an insecticidal inhibitor of acetyl-CoA carboxylase in the nematode C. elegans.
GP00002618
ACC
Q7JV23
Physiology
A1847V
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
acetyl-CoA carboxylase (ACC)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles albimanus
(species) D
Intraspecific
Candidate Gene
Weill M; Malcolm C; Chandre F ; et al. (2004)
The unique mutation in ace-1 giving high insecticide resistance is easily detectable in mosquito vec[...]
GP00000026
Ace
P07140
Physiology
G119S
Anopheles albimanus
(species)
Anopheles albimanus
(species) D
Acetylcholinesterase (Ace-1)
Anopheles albimanus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000027
Ace
P07140
Physiology
G119S
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000028
Ace
P07140
Physiology
Gly119Ser (119 is the corresponding position in Torpedo) - GGC to AGC
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Weill M; Lutfalla G; Mogensen K ; et al. (2003)
Comparative genomics: Insecticide resistance in mosquito vectors.
GP00000029
Ace
P07140
Physiology
Gly119Ser (119 is the corresponding position in Torpedo) - GGC to AGC
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
1 Additional References
GP00000030
Ace
P07140
Physiology
F331W
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
Acetylcholinesterase (Ace-1)
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex vishnui
(species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Cui F ; et al. (2007)
Different amino-acid substitutions confer insecticide resistance through acetylcholinesterase 1 inse[...]
GP00000031
Ace
P07140
Physiology
G119S
Culex vishnui
(species)
Culex vishnui
(species) D
Acetylcholinesterase (Ace-1)
Culex vishnui
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
3 Mutations:
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Shang Q; Pan Y; Fang K ; et al. (2014)
Extensive Ace2 duplication and multiple mutations on Ace1 and Ace2 are related with high level of or[...]
4 Additional References
GP00000036
Ace
P07140
Physiology
3 mutations
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace-1)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
2 Additional References
GP00002013
Ace
P07140
Physiology
A201S
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Nabeshima T; Kozaki T; Tomita T ; et al. (2003)
An amino acid substitution on the second acetylcholinesterase in the pirimicarb-resistant strains of[...]
GP00002015
Ace
P07140
Physiology
Ser431Phe (position 331 in mature Torpedo protein)
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
Acetylcholinesterase (Ace-1)
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Chilo suppressalis
striped riceborer - (species) D
Intraspecific
Candidate Gene
Jiang X; Qu M; Denholm I ; et al. (2009)
Mutation in acetylcholinesterase1 associated with triazophos resistance in rice stem borer, Chilo su[...]
GP00002453
Ace
P07140
Physiology
an amino acid mutation A314S in Ch-ace1 (corresponding to A201S in Torpedo californica AChE) was consistently associated with the occurrence of resistance
Chilo suppressalis
striped riceborer - (species)
Chilo suppressalis
striped riceborer - (species) D
Acetylcholinesterase (Ace-1)
Chilo suppressalis
striped riceborer - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Lee DW; Choi JY; Kim WT ; et al. (2007)
Mutations of acetylcholinesterase1 contribute to prothiofos-resistance in Plutella xylostella (L.).
3 Additional References
GP00002454
Ace
P07140
Physiology
2 mutations
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
Acetylcholinesterase (Ace-1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Mavridis K; Papapostolou KM; Ilias A ; et al. (2022)
Next-generation molecular diagnostics (TaqMan qPCR and ddPCR) for monitoring insecticide resistance [...]
GP00002512
Ace
P07140
Physiology
F331W
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
Acetylcholinesterase (Ace-1)
Bemisia tabaci
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002571
Ace
P07140
Physiology
S119G
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
2 Additional References
GP00002572
Ace
P07140
Physiology
G328A
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Khajehali J; Van Leeuwen T; Grispou M ; et al. (2010)
Acetylcholinesterase point mutations in European strains of Tetranychus urticae (Acari: Tetranychida[...]
1 Additional References
GP00002573
Ace
P07140
Physiology
F331W
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002574
Ace
P07140
Physiology
D128E
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Li F; Han Z (2004)
Mutations in acetylcholinesterase associated with insecticide resistance in the cotton aphid, Aphis [...]
3 Additional References
GP00002577
Ace
P07140
Physiology
A201S
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace-1)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cydia pomonella
codling moth - (species) D
Intraspecific
Candidate Gene
Cassanelli S; Reyes M; Rault M ; et al. (2006)
Acetylcholinesterase mutation in an insecticide-resistant population of the codling moth Cydia pomon[...]
1 Additional References
GP00002580
Ace
P07140
Physiology
F399V = F290V
Cydia pomonella
codling moth - (species)
Cydia pomonella
codling moth - (species) D
Acetylcholinesterase (Ace-1)
Cydia pomonella
codling moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Alout H; Berthomieu A; Hadjivassilis A ; et al. (2007)
A new amino-acid substitution in acetylcholinesterase 1 confers insecticide resistance to Culex pipi[...]
1 Additional References
GP00002581
Ace
P07140
Physiology
F290V
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Acetylcholinesterase (Ace-1)
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002587
Ace
P07140
Physiology
S329(228)P
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-1)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Kwon Deok Ho; Cha Deok Jea; Kim Young Ho ; et al. (2012
)
Cloning of the acetylcholinesterase 1 gene and identification of point mutations putatively associat[...]
1 Additional References
GP00002589
Ace
P07140
Physiology
F330S
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Kwon Deok Ho; Cha Deok Jea; Kim Young Ho ; et al. (2012
)
Cloning of the acetylcholinesterase 1 gene and identification of point mutations putatively associat[...]
1 Additional References
GP00002590
Ace
P07140
Physiology
F331H
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus kanzawai
(species) D
Intraspecific
Candidate Gene
Aiki Yasuhiko; Kozaki Toshinori; Mizuno Hiroshi ; et al. (2005
)
Amino acid substitution in Ace paralogous acetylcholinesterase accompanied by organophosphate resist[...]
1 Additional References
GP00002591
Ace
P07140
Physiology
F331W
Tetranychus kanzawai
(species)
Tetranychus kanzawai
(species) D
Acetylcholinesterase (Ace-1)
Tetranychus kanzawai
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002592
Ace
P07140
Physiology
F331C
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus evansi
red spider mite - (species) D
Intraspecific
Candidate Gene
Carvalho Renato; Yang Yihua; Field Linda M ; et al. (2012
)
Chlorpyrifos resistance is associated with mutation and amplification of the acetylcholinesterase-1 [...]
1 Additional References
GP00002593
Ace
P07140
Physiology
F331W/Y
Tetranychus evansi
red spider mite - (species)
Tetranychus evansi
red spider mite - (species) D
Acetylcholinesterase (Ace-1)
Tetranychus evansi
red spider mite - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Laodelphax striatellus
small brown planthopper - (species) D
Intraspecific
Candidate Gene
Zhang Yueliang; Li Shuo; Xu Lu ; et al. (2013
)
Overexpression of carboxylesterase-1 and mutation (F439H) of acetylcholinesterase-1 are associated w[...]
1 Additional References
GP00002594
Ace
P07140
Physiology
F331H
Laodelphax striatellus
small brown planthopper - (species)
Laodelphax striatellus
small brown planthopper - (species) D
Acetylcholinesterase (Ace-1)
Laodelphax striatellus
small brown planthopper - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitobion avenae
English grain aphid - (species) D
Intraspecific
Candidate Gene
Chen Maohua; Han Zhaojun; Qiao Xianfeng ; et al. (2007
)
Resistance mechanisms and associated mutations in acetylcholinesterase genes in Sitobion avenae (Fab[...]
1 Additional References
GP00002595
Ace
P07140
Physiology
L336S
Sitobion avenae
English grain aphid - (species)
Sitobion avenae
English grain aphid - (species) D
Acetylcholinesterase (Ace-1)
Sitobion avenae
English grain aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Zhang LJ; Jing YP; Li XH ; et al. (2015)
Temperature-sensitive fitness cost of insecticide resistance in Chinese populations of the diamondba[...]
1 Additional References
GP00002598
Ace
P07140
Physiology
A441G
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
Acetylcholinesterase (Ace-1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000040
Ace
P07140
Physiology
Gly365Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000041
Ace
P07140
Physiology
Gly262Val
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000043
Ace
P07140
Physiology
Gly262Ala
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
4 Mutations:
Coding
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
2 Additional References
GP00002011
Ace
P07140
Physiology
4 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Mutero A; Pralavorio M; Bride JM ; et al. (1994)
Resistance-associated point mutations in insecticide-insensitive acetylcholinesterase.
GP00002012
Ace
P07140
Physiology
Ile199Thr (position 129 in the corresponding mature Torpedo AChE). Tested in vitro in Xenopus oocytes
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002016
Ace
P07140
Physiology
Gly368Ala (position 328 in the corresponding mature Torpedo AChE). Tested in vitro in Xenopus oocytes - GGC>GCC
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Anthony NM; Brown JK; Markham PG ; et al. (1995
)
Molecular analysis of cyclodiene resistance-associated mutations among populations of the sweetpotat[...]
1 Additional References
GP00002565
Ace
P07140
Physiology
Phe392Trp mutation located in the acyl pocket of the active site gorge and recently shown to confer OP insensitivity in Culex tritaeniorhynchus
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
Acetylcholinesterase (Ace-2)
Bemisia tabaci
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002568
Ace
P07140
Physiology
E73G
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Aphis gossypii
cotton aphid - (species) D
Intraspecific
Candidate Gene
Li Fei; Han Zhaojun (2004
)
Mutations in acetylcholinesterase associated with insecticide resistance in the cotton aphid, Aphis [...]
1 Additional References
GP00002569
Ace
P07140
Physiology
F78L
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species) D
Acetylcholinesterase (Ace-2)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Menozzi P; Shi MA; Lougarre A ; et al. (2004)
Mutations of acetylcholinesterase which confer insecticide resistance in Drosophila melanogaster pop[...]
GP00002570
Ace
P07140
Physiology
E81K
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Kozaki T; Shono T; Tomita T ; et al. (2001)
Fenitroxon insensitive acetylcholinesterases of the housefly, Musca domestica associated with point [...]
1 Additional References
GP00002575
Ace
P07140
Physiology
I129V
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Hejazi MJ; Hawkes NJ ; et al. (2002)
Resistance-associated point mutations of organophosphate insensitive acetylcholinesterase, in the ol[...]
1 Additional References
GP00002576
Ace
P07140
Physiology
I129V
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Haematobia irritans
horn fly - (species) D
Intraspecific
Candidate Gene
Temeyer KB; Li AY; Lohmeyer KH ; et al. (2008)
Acetylcholinesterase mutation in diazinon-resistant Haematobia irritans (L.) (Diptera: Muscidae).
1 Additional References
GP00002578
Ace
P07140
Physiology
G227A
Haematobia irritans
horn fly - (species)
Haematobia irritans
horn fly - (species) D
Acetylcholinesterase (Ace-2)
Haematobia irritans
horn fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
1 Additional References
GP00002579
Ace
P07140
Physiology
S238G
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace-2)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
1 Additional References
GP00002582
Ace
P07140
Physiology
F290Y
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace-2)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Cochliomyia hominivorax
primary screw-worm - (species) D
Intraspecific
Candidate Gene
da Silva NM; de Carvalho RA; de Azeredo-Espin AM (2011)
Acetylcholinesterase cDNA sequencing and identification of mutations associated with organophosphate[...]
GP00002583
Ace
P07140
Physiology
F466Y
Cochliomyia hominivorax
primary screw-worm - (species)
Cochliomyia hominivorax
primary screw-worm - (species) D
Acetylcholinesterase (Ace-2)
Cochliomyia hominivorax
primary screw-worm - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002585
Ace
P07140
Physiology
F368(290)L
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-2)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Intraspecific
Candidate Gene
Chen MH; Han ZJ; Qiao XF ; et al. (2007)
Mutations in acetylcholinesterase genes of Rhopalosiphum padi resistant to organophosphate and carba[...]
1 Additional References
GP00002586
Ace
P07140
Physiology
V435(356)A
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Rhopalosiphum padi
bird cherry-oat aphid - (species) D
Acetylcholinesterase (Ace-2)
Rhopalosiphum padi
bird cherry-oat aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Ceratitis capitata
Mediterranean fruit fly - (species) D
Intraspecific
Candidate Gene
Magaña C; Hernández-Crespo P; Brun-Barale A ; et al. (2008)
Mechanisms of resistance to malathion in the medfly Ceratitis capitata.
1 Additional References
GP00002588
Ace
P07140
Physiology
Gly328Ala
Ceratitis capitata
Mediterranean fruit fly - (species)
Ceratitis capitata
Mediterranean fruit fly - (species) D
Acetylcholinesterase (Ace-2)
Ceratitis capitata
Mediterranean fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Culex tritaeniorhynchus
(species) D
Intraspecific
Candidate Gene
Nabeshima T; Mori A; Kozaki T ; et al. (2004)
An amino acid substitution attributable to insecticide-insensitivity of acetylcholinesterase in a Ja[...]
1 Additional References
GP00002596
Ace
P07140
Physiology
F331W - F455W whose homologous position in Torped AChE (Phe331) is located in the vicinity of the catalytic His in the acyl pocket of the active site gorge
Culex tritaeniorhynchus
(species)
Culex tritaeniorhynchus
(species) D
Acetylcholinesterase (Ace-2)
Culex tritaeniorhynchus
(species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-2)
Xenobiotic resistance (insecticide)
Coding,
SNP
Sitobion avenae
English grain aphid - (species) D
Intraspecific
Candidate Gene
Chen Maohua; Han Zhaojun; Qiao Xianfeng ; et al. (2007
)
Resistance mechanisms and associated mutations in acetylcholinesterase genes in Sitobion avenae (Fab[...]
1 Additional References
GP00002597
Ace
P07140
Physiology
W435R
Sitobion avenae
English grain aphid - (species)
Sitobion avenae
English grain aphid - (species) D
Acetylcholinesterase (Ace-2)
Sitobion avenae
English grain aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera oleae
olive fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Hejazi MJ; Hawkes NJ ; et al. (2002)
Resistance-associated point mutations of organophosphate insensitive acetylcholinesterase, in the ol[...]
GP00000037
Ace
P07140
Physiology
2 mutations
Bactrocera oleae
olive fruit fly - (species)
Bactrocera oleae
olive fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera oleae
olive fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00000039
Ace
P07140
Physiology
Ser->Gly at position 238 of the Torpedo AChE
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000042
Ace
P07140
Physiology
Val180Leu
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Walsh SB; Dolden TA; Moores GD ; et al. (2001)
Identification and characterization of mutations in housefly (Musca domestica) acetylcholinesterase [...]
GP00000044
Ace
P07140
Physiology
Phe327Tyr
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
Acetylcholinesterase (Ace)
Musca domestica
house fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
2 Mutations:
Coding
SNP
Bactrocera dorsalis
oriental fruit fly - (species) D
Intraspecific
Candidate Gene
Hsu JC; Haymer DS; Wu WJ ; et al. (2006)
Mutations in the acetylcholinesterase gene of Bactrocera dorsalis associated with resistance to orga[...]
GP00000045
Ace
P07140
Physiology
2 mutations
Bactrocera dorsalis
oriental fruit fly - (species)
Bactrocera dorsalis
oriental fruit fly - (species) D
Acetylcholinesterase (Ace)
Bactrocera dorsalis
oriental fruit fly - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace)
Xenobiotic resistance (insecticide)
Coding,
SNP
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Intraspecific
Candidate Gene
Zhu KY; Lee SH; Clark JM (1996)
A Point Mutation of Acetylcholinesterase Associated with Azinphosmethyl Resistance and Reduced Fitne[...]
GP00002014
Ace
P07140
Physiology
Ser>Gly (238 is the corresponding position in Torpedo)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Leptinotarsa decemlineata
Colorado potato beetle - (species) D
Acetylcholinesterase (Ace)
Leptinotarsa decemlineata
Colorado potato beetle - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (genitalia; leg sex comb)
3 Mutations:
Cis-regulatory
SNP
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Nagy O; Nuez I; Savisaar R ; et al. (2018)
Correlated Evolution of Two Copulatory Organs via a Single cis-Regulatory Nucleotide Change.
GP00001680
sc
P10084
Morphology
3 mutations
Drosophila yakuba
(species)
Drosophila santomea
(species) D
achaete-scute complex
Drosophila santomea
(species)
Published - Accepted by Curator
ACS11
Plant architecture (petiole-to-leaf-length ratio)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Kooke R; Kruijer W; Bours R ; et al. (2016)
Genome-Wide Association Mapping and Genomic Prediction Elucidate the Genetic Architecture of Morphol[...]
GP00001235
ACS11
Q9S9U6
Morphology
several candidate amino acid changes
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ACS11
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
adenosine deaminase (AgADA)
Pathogen resistance (parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001463
ADA
P00813
Physiology
c.C427T p.R143C
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
adenosine deaminase (AgADA)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
AEP2
Hybrid Incompatibility (F2 sterility)
Coding,
SNP
Saccharomyces bayanus
(species)
Domesticated
Linkage Mapping
Lee HY; Chou JY; Cheong L ; et al. (2008)
Incompatibility of nuclear and mitochondrial genomes causes hybrid sterility between two yeast speci[...]
GP00000051
AEP2
P22136
Physiology
The region between aa 348 and aa 496 plays a critical role. When this region was further dissected in the constructs H-AEP2-bcb and H-AEP2-m3; both failed to restore respiration in the Chromosome 13 line. This result suggests that multiple critical mutations have occurred during the functional diversification of Sc-AEP2 and Sb-AEP2.
Exact causing mutation(s) not determined
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces bayanus
(species)
AEP2
Saccharomyces bayanus
(species)
Published - Accepted by Curator
AGAMOUS-Like6
Plant architecture
Inflorescence architecture
Coding,
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Huang X; Effgen S; Meyer RC ; et al. (2012)
Epistatic natural allelic variation reveals a function of AGAMOUS-LIKE6 in axillary bud formation in[...]
GP00000053
AGL6
P29386
Morphology
Morphology
Pro201Leu
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AGAMOUS-Like6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Cis-regulatory,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Cavanagh JA; Tammen I; Windsor PA ; et al. (2007)
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.
GP00002141
ACAN
P16112
Morphology
−198C>T transition predicted to introduce a new ATG start codon 199 bp upstream of the normal start codon N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
aggrecan
Bos taurus
cattle - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Metzger J; Gast AC; Schrimpf R ; et al. (2017)
Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland p[...]
1 Additional References
GP00002143
ACAN
P16112
Morphology
g.95282140C>G ; p.Ala505Pro
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002144
ACAN
P16112
Morphology
g.95284530C>T ; p.Val424Met
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
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
N
Panthera pardus
leopard - (species) D
Intraspecific
Candidate Gene
Schneider A; David VA; Johnson WE ; et al. (2012)
How the leopard hides its spots: ASIP mutations and melanism in wild cats.
GP00000065
Asip
Q03288
Morphology
nonsense mutation located in exon 4 (C333A) predicted to introduce a stop codon at amino acid position 111 N
Panthera pardus
leopard - (species)
Panthera pardus
leopard - (species) D
Agouti
Panthera pardus
leopard - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
Catopuma temminckii
Asiatic golden cat - (species)
Intraspecific
Candidate Gene
Schneider A; David VA; Johnson WE ; et al. (2012)
How the leopard hides its spots: ASIP mutations and melanism in wild cats.
GP00000066
Asip
Q03288
Morphology
C128W (384C>G)
Catopuma temminckii
Asiatic golden cat - (species)
Catopuma temminckii
Asiatic golden cat - (species)
Agouti
Catopuma temminckii
Asiatic golden cat - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Leopardus colocolo
Colocolo - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001731
Asip
Q03288
Morphology
Arg to Cys substitution in the C-terminal region of ASIP (p.R120C) lies in the critical RFF loop (e.g. a triplet motif made of one arginine and two phenylalanine residues) required for binding to the MC1R N
Leopardus colocolo
Colocolo - (species)
Leopardus colocolo
Colocolo - (species) D
Agouti
Leopardus colocolo
Colocolo - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Leopardus guigna
Kodkod - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001732
Asip
Q03288
Morphology
Cys to Tyr substitution in ASIP (p.C126Y) which affects the key disulfide bond that stabilizes the RFF loop N
Leopardus guigna
Kodkod - (species)
Leopardus guigna
Kodkod - (species) D
Agouti
Leopardus guigna
Kodkod - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
5 Mutations:
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Association Mapping
Linnen CR; Poh YP; Peterson BK ; et al. (2013)
Adaptive evolution of multiple traits through multiple mutations at a single gene.
1 Additional References
GP00001974
Asip
Q03288
Morphology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Agouti
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Association Mapping
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00001976
Asip
Q03288
Morphology
recessive mutation at nucleotide position 193 (in exon 3) resulting in a change from glutamine to a stop codon at amino acid position 65 (Q65term) N
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Agouti
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
Sciurus niger
fox squirrel - (species) D
Intraspecific
Candidate Gene
McRobie HR; Moncrief ND; Mundy NI (2019)
Multiple origins of melanism in two species of North American tree squirrel (Sciurus).
GP00002335
Morphology
Gly121Cys
Sciurus niger
fox squirrel - (species)
Sciurus niger
fox squirrel - (species) D
Agouti
Sciurus niger
fox squirrel - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies)
Domesticated
Candidate Gene
Berryere TG; Kerns JA; Barsh GS ; et al. (2005)
Association of an Agouti allele with fawn or sable coat color in domestic dogs.
GP00000060
Asip
Q03288
Morphology
c.244G>T + 248G>A ; p.A82S + p.R83H
A82S and R83H in Linkage Disequilibrium
a G-to-T transversion and a G-to-A transition in exon 4 at positions corresponding to residues 244 and 248 of the cDNA sequence
It is unknown if one or both substitutions alter Agouti protein function
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies)
Agouti (ASIP)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Kerns JA; Newton J; Berryere TG ; et al. (2004)
Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs.
1 Additional References
GP00000061
Asip
Q03288
Morphology
R96C ; g.23393552C>T c.286C>T p.R96C
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
Agouti (ASIP)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Norris BJ; Whan VA (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]
GP00001325
Asip
Q03288
Morphology
unidentified promoter silencing
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Monarcha castaneiventris
Makira monarch - (species) D
Intraspecific
Association Mapping
Uy JA; Cooper EA; Cutie S ; et al. (2016)
Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]
GP00001334
Asip
Q03288
Morphology
Ile55Thr
Monarcha castaneiventris
Makira monarch - (species)
Monarcha castaneiventris
Makira monarch - (species) D
Agouti (ASIP)
Monarcha castaneiventris
Makira monarch - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Abitbol M; Legrand R; Tiret L (2015)
A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light poin[...]
GP00001335
Asip
Q03288
Morphology
c.349T>C p.Cys117Arg
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
Agouti (ASIP)
Equus asinus
ass - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Lifespan
2 Mutations:
Coding
N
Ovis aries
sheep - (species) D
Intraspecific
Linkage Mapping
Gratten J; Pilkington JG; Brown EA ; et al. (2010)
The genetic basis of recessive self-colour pattern in a wild sheep population.
1 Additional References
GP00001356
Asip
Q03288
Morphology
Physiology
2 mutations
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
SNP
Vicugna pacos
alpaca - (species) D
Domesticated
Candidate Gene
Chandramohan B; Renieri C; La Manna V ; et al. (2013)
The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomela[...]
GP00002336
Asip
Q03288
Morphology
p.R98C likely affecting conformation in a cysteine-rich domain
Vicugna pacos
alpaca - (species)
Vicugna pacos
alpaca - (species) D
Agouti (ASIP)
Vicugna pacos
alpaca - (species)
Published - Accepted by Curator
AHR
Xenobiotic resistance (polycyclic aromatic hydrocarbons; TCDD)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Linkage Mapping
Poland A; Palen D; Glover E (1994)
Analysis of the four alleles of the murine aryl hydrocarbon receptor.
GP00001810
Ahr
P30561
Physiology
alanine at position 375 mutated into valine; decreases the affinity 4-fold
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
AHR
Mus musculus
house mouse - (species)
Published - Accepted by Curator
AHR
Xenobiotic resistance (dioxins; polycyclic aromatic hydrocarbons; TCDD)
2 Mutations:
Coding
SNP
Sterna hirundo hirundo
(subspecies) D
Intergeneric or Higher
Candidate Gene
Karchner SI; Franks DG; Kennedy SW ; et al. (2006)
The molecular basis for differential dioxin sensitivity in birds: role of the aryl hydrocarbon recep[...]
1 Additional References
GP00001811
Ahr
P30561
Physiology
2 mutations
Gallus gallus
chicken - (species)
Sterna hirundo hirundo
(subspecies) D
AHR
Sterna hirundo hirundo
(subspecies)
Published - Accepted by Curator
AHR
Xenobiotic resistance (TCDD)
Coding,
SNP
N
Rattus norvegicus
Norway rat - (species) D
Intraspecific
Linkage Mapping
Tuomisto JT; Viluksela M; Pohjanvirta R ; et al. (1999)
The AH receptor and a novel gene determine acute toxic responses to TCDD: segregation of the resista[...]
2 Additional References
GP00001813
Ahr
P30561
Physiology
point mutation in the exon/intron 10 boundary in AHR genomic structure that leads to use of 3 alternative cryptic splice sites; potentially creating 3 alternative transcripts and 2 protein products. At the protein level the mutation leads to a total loss of either 43 or 38 amino acids (with altered sequence for the last seven amino acids in the latter case) toward the carboxyl-terminal end in the trans-activation domain of the AhR. H/W rats also harbor a point mutation in exon 10 that will cause a Val-to-Ala substitution in codon 497, but this occurs in a variable region of the AhR N
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species) D
AHR
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
AIM22
F2 lethality
Coding,
SNP
Saccharomyces bayanus
(species)
Interspecific
Linkage Mapping
Chou JY; Hung YS; Lin KH ; et al. (2010)
Multiple molecular mechanisms cause reproductive isolation between three yeast species.
GP00000073
AIM22
P47051
Physiology
Several candidate non-synonymous changes - exact causing mutation(s) unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces bayanus
(species)
AIM22
Saccharomyces bayanus
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
6 Mutations:
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Choudhary M; Laurie CC (1991)
Use of in vitro mutagenesis to analyze the molecular basis of the difference in Adh expression assoc[...]
4 Additional References
GP00001962
Adh
P00334
Physiology
6 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
4 Mutations:
Drosophila yakuba
(species)
Interspecific
Candidate Gene
Loehlin DW; Ames JR; Vaccaro K ; et al. (2019)
A major role for noncoding regulatory mutations in the evolution of enzyme activity.
GP00001963
Adh
P00334
Physiology
4 mutations
Drosophila santomea
(species)
Drosophila yakuba
(species)
alcohol dehydrogenase (Adh)
Drosophila yakuba
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
4 Mutations:
Drosophila erecta
(species)
Interspecific
Candidate Gene
Loehlin DW; Ames JR; Vaccaro K ; et al. (2019)
A major role for noncoding regulatory mutations in the evolution of enzyme activity.
GP00001964
Adh
P00334
Physiology
4 mutations
Drosophila orena
(species)
Drosophila erecta
(species)
alcohol dehydrogenase (Adh)
Drosophila erecta
(species)
Published - Accepted by Curator
alcohol dehydrogenase (ADH1B)
Xenobiotic resistance (alcohol)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Li H; Mukherjee N; Soundararajan U ; et al. (2007)
Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and [...]
1 Additional References
GP00000077
ADH1B
P00325
Physiology
Arg47His; the derived allele results in 100-fold enzymatic rate increase and shows signs of positive selection in correlation with history of rice domestication
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
alcohol dehydrogenase (ADH1B)
Homo sapiens
human - (species)
Published - Accepted by Curator
Aldehyde dehydrogenase (Aldh)
Xenobiotic resistance (alcohol)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Fry JD; Donlon K; Saweikis M (2008)
A worldwide polymorphism in aldehyde dehydrogenase in Drosophila melanogaster: evidence for selectio[...]
GP00002007
Aldh
Q9VLC5
Physiology
L479F C9391311T
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Aldehyde dehydrogenase (Aldh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Alk / Starch Synthase II
Grain cooking texture
4 Mutations:
Coding
SNP
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Umemoto T; Yano M; Satoh H ; et al. (2002)
Mapping of a gene responsible for the difference in amylopectin structure between japonica-type and [...]
2 Additional References
GP00000078
SSII-3
Q0DDE3
Physiology
4 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Alk / Starch Synthase II
Oryza sativa
rice - (species)
Published - Accepted by Curator
Allantoinase DAL1
Nitrogen use (growth rate on allantoin)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Ibstedt S; Stenberg S; Bagés S ; et al. (2015)
Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.
GP00001502
DAL1
P32375
Physiology
c.415C>T p.P139S predicted to be strongly detrimental
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Allantoinase DAL1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001893
ALS
P17597
Physiology
W574L
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001894
ALS
P17597
Physiology
S653N
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
ALS
Xenobiotic resistance (herbicides; ALS inhibitor)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Linkage Mapping
Patzoldt William L; Tranel Patrick J (2007
)
Multiple ALS mutations confer herbicide resistance in waterhemp (Amaranthus tuberculatus)
GP00001895
ALS
P17597
Physiology
S653T
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
ALS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
Amhr2
Sex determination (female vs male)
Coding,
SNP
Takifugu rubripes
torafugu - (species)
Takifugu poecilonotus
finepatterned puffer - (species)
Takifugu pardalis
panther puffer - (species)
Intraspecific
Linkage Mapping
Kamiya T; Kai W; Tasumi S ; et al. (2012)
A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, [...]
GP00002147
AMHR2
Q16671
Physiology
His/Asp384 heterozygous males have reduced Amrh2 activity due to decreased activity of the kinase signaling domain
Takifugu rubripes
torafugu - (species)
Takifugu poecilonotus
finepatterned puffer - (species)
Takifugu pardalis
panther puffer - (species)
Takifugu rubripes
torafugu - (species)
Takifugu poecilonotus
finepatterned puffer - (species)
Takifugu pardalis
panther puffer - (species)
Amhr2
Takifugu rubripes
torafugu - (species)
Takifugu poecilonotus
finepatterned puffer - (species)
Takifugu pardalis
panther puffer - (species)
Published - Accepted by Curator
AMN1
Cell separation
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Yvert G; Brem RB; Whittle J ; et al. (2003)
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors.
GP00000082
AMN1
P38285
Physiology
D368V
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
AMN1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
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)
Interspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000093
AN2
A4GRU8
Morphology
1 aa substitution; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Interspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000094
AN2
A4GRU8
Morphology
1 aa substitution; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
apicoplast ribosomal protein S10
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001531
PF3D7_1460900.1
Q8IKM3
Physiology
p.Val127Met
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
apicoplast ribosomal protein S10
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
APOE (apolipoprotein E)
Aging
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Joshi PK; Fischer K; Schraut KE ; et al. (2016)
Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan.
GP00000099
APOE
P02649
Physiology
Cys112Arg
Homo sapiens
human - (species)
Homo sapiens
human - (species)
APOE (apolipoprotein E)
Homo sapiens
human - (species)
Published - Accepted by Curator
APSR
Sulfate content (shoot)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Loudet O; Saliba-Colombani V; Camilleri C ; et al. (2007)
Natural variation for sulfate content in Arabidopsis thaliana is highly controlled by APR2.
GP00000100
APR2
P92981
Physiology
A399E N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
APSR
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Aquaporin
Water transport (selective accumulation of water or glycerol)
Coding,
SNP
Polypedilum vanderplanki
sleeping chironomid - (species)
Interspecific
Candidate Gene
Finn RN; Chauvigné F; Stavang JA ; et al. (2015)
Insect glycerol transporters evolved by functional co-option and gene replacement.
GP00001421
AQP1
P29972
Physiology
p.His174Ala
Blattella germanica
German cockroach - (species)
Polypedilum vanderplanki
sleeping chironomid - (species)
Aquaporin
Polypedilum vanderplanki
sleeping chironomid - (species)
Published - Accepted by Curator
Aquaporin (AQY1)
Growth rate (environment-dependent)
2 Mutations:
Coding
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001872
AQP1
P29972
Physiology
2 mutations
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
arginyl-transfer RNA synthetase (RARS)
Heat tolerance
Coding,
SNP
Anolis cristatellus
(species) D
Intraspecific
Association Mapping
Campbell-Staton SC; Winchell KM; Rochette NC ; et al. (2020)
Parallel selection on thermal physiology facilitates repeated adaptation of city lizards to urban he[...]
GP00002620
RARS2
Q5T160
Physiology
C>G threonine>serine at amino acid residue 558 of the RARS gene = adjacent to a predicted protein-binding region22 (AA556–557). There are four non-synonymous polymorphic sites within RARS. Only one shows a significant difference in allele frequency between forest and urban habitats across all populations.
Anolis cristatellus
(species)
Anolis cristatellus
(species) D
arginyl-transfer RNA synthetase (RARS)
Anolis cristatellus
(species)
Published - Accepted by Curator
ARHGAP11B
Neocortex development (basal progenitor amplification)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Florio M; Namba T; Pääbo S ; et al. (2016)
A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification.
GP00001442
ARHGAP11B
Q3KRB8
Morphology
c.661C>G new splice site mutation removing 55nt from exon 5 truncating a GAP domain N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ARHGAP11B
Homo sapiens
human - (species)
Published - Accepted by Curator
ARHGAP15
Pathogen resistance (Trypanosoma)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Noyes H; Brass A; Obara I ; et al. (2011)
Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypa[...]
GP00000103
Arhgap15
Q811M1
Physiology
H282P
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
ARHGAP15
Bos taurus
cattle - (species)
Published - Accepted by Curator
ARHGEF3
Hematopoiesis (mean blood platelet volume & blood platelet count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001605
ARHGEF3
Q9NR81
Physiology
T>C at the associated SNP that disrupts a conserved GATA motif. This variant overlaps with a common-myeloid progenitor (CMP-) and megakaryocyte-erythroid progenitor (MEP-) specific regulatory element that affects the transcription of ARHGEF3
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ARHGEF3
Homo sapiens
human - (species)
Published - Accepted by Curator
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[...]
1 Additional References
GP00000118
GA20OX1
Q39110
Morphology
W271* -G816A according to Fig.3 of Xu et al. 1995 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000119
GA20OX1
Q39110
Morphology
E312* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000120
GA20OX1
Q39110
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000121
GA20OX1
Q39110
Morphology
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000122
GA20OX1
Q39110
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000123
GA20OX1
Q39110
Morphology
Splice Site mutation G742A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00001685
GA20OX1
Q39110
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtMYC1
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Symonds VV; Hatlestad G; Lloyd AM (2011)
Natural allelic variation defines a role for ATMYC1: trichome cell fate determination.
1 Additional References
GP00001268
BHLH12
Q8W2F1
Morphology
P189A
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtMYC1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
3 Mutations:
Coding
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001909
ATP4B
P51164
Physiology
3 mutations
Monodelphis domestica
gray short-tailed opossum - (species)
Homo sapiens
human - (species)
Ornithorhynchus anatinus
platypus - (species) D
ATP4B
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
ATR13
Pathogenicity
Coding,
SNP
Hyaloperonospora parasitica
(species)
Intraspecific
Linkage Mapping
Allen RL; Bittner-Eddy PD; Grenville-Briggs LJ ; et al. (2004)
Host-parasite coevolutionary conflict between Arabidopsis and downy mildew.
1 Additional References
GP00000128
Atr13
Q5G7K8
Physiology
Multiple coding changes - the avirulence allele ATR13‐Maks9 and the virulence allele ATR13‐Emoy2 only encode differences in the C‐terminal domain (in 11 amino acids) - domain swaps show that one or more of the amino acids in Region A are required for recognition and one or more in Region B are required to elicit a full recognition phenotype. - exact causing mutations unknown
Hyaloperonospora parasitica
(species)
Hyaloperonospora parasitica
(species)
ATR13
Hyaloperonospora parasitica
(species)
Published - Accepted by Curator
B4GALT7
Body size (dwarfism)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Leegwater PA; Vos-Loohuis M; Ducro BJ ; et al. (2016)
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
GP00002151
B4GALT7
Q9UBV7
Morphology
g.3,772,591C>T ; c.50G>A ; p.R17K ; last nucleotide of exon 1 and leads to a splicing deficiency of B4GALT7 transcripts ; All 29 dwarfs of which DNA was available were homozygous for the mutation . . . the 8 obligate carriers were heterozygous
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
B4GALT7
Equus caballus
horse - (species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
2 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002610
bab1
Q9W0K7
Morphology
2 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
2 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002611
bab1
Q9W0K7
Morphology
2 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Juwattanasomran R; Somta P; Chankaew S ; et al. (2011)
A SNP in GmBADH2 gene associates with fragrance in vegetable soybean variety "Kaori" and SNAP marker[...]
GP00000133
BADH2
Q84LK3
Physiology
1 amino-acid substitution in conserved enzymatic domain
Glycine max
soybean - (species)
Glycine max
soybean - (species)
BADH2
Glycine max
soybean - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001775
BADH2
Q84LK3
Physiology
G>T substitution in exon 10 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001776
BADH2
Q84LK3
Physiology
G>T substitution in exon 14 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001777
BADH2
Q84LK3
Physiology
C>T substitution in exon 13 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BCMA
Glucosinolate content
Herbivore resistance
3 Mutations:
Boechera stricta
(species)
Intraspecific
Linkage Mapping
Prasad KV; Song BH; Olson-Manning C ; et al. (2012)
A gain-of-function polymorphism controlling complex traits and fitness in nature.
GP00000136
J9QWI9
Physiology
Physiology
3 mutations
Boechera stricta
(species)
Boechera stricta
(species)
BCMA
Boechera stricta
(species)
Published - Accepted by Curator
BCMO1
Carotenoid content
2 Mutations:
Cis-regulatory
SNP
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Le Bihan-Duval E; Nadaf J; Berri C ; et al. (2011)
Detection of a Cis [corrected] eQTL controlling BCMO1 gene expression leads to the identification of[...]
GP00000137
BCO1
Q9HAY6
Morphology; Physiology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
BCMO1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow serum)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Berry SD; Davis SR; Beattie EM ; et al. (2009)
Mutation in bovine beta-carotene oxygenase 2 affects milk color.
1 Additional References
GP00000138
BCO2
Q9BYV7
Physiology
c.306G>A ; p.W102* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
BCO2 = beta-carotene oxygenase 2
Bos taurus
cattle - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow fat)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Våge DI; Boman IA (2010)
A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumula[...]
1 Additional References
GP00000140
BCO2
Q9BYV7
Physiology
g.21947481C>T ; c.196C>T ; p.Q66* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BCO2 = beta-carotene oxygenase 2
Ovis aries
sheep - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (bill, legs)
Coding,
SNP
N
Serinus canaria
common canary - (species) D
Domesticated
Association Mapping
Gazda MA; Toomey MB; Araújo PM ; et al. (2020)
GENETIC BASIS OF DE NOVO APPEARANCE OF CAROTENOID ORNAMENTATION IN BARE-PARTS OF CANARIES.
GP00002039
BCO2
Q9BYV7
Morphology
point mutation at nucleotide position 837,806 that is predicted to be a nonsynonymous mutation in the exon 9 of the BCO2 gene. This variant results in the substitution of a histidine for an arginine at residue 413 of the protein (R413H) . In silico analysis suggests that the R413H could cause structural distortion of the protein and lead to a possible loss of activity. In vitro assays with the urucum BCO2 variant show that the enzyme activity is lost. N
Serinus canaria
common canary - (species)
Serinus canaria
common canary - (species) D
BCO2 = beta-carotene oxygenase 2
Serinus canaria
common canary - (species)
Published - Accepted by Curator
beta-casein
Milk protein content (casein)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Gallinat JL; Qanbari S; Drögemüller C ; et al. (2013)
DNA-based identification of novel bovine casein gene variants.
GP00002025
CSN2
P02666
Physiology
g.87181619A>C c.245A>C p.H82P CAT>CCT
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
beta-casein
Bos taurus
cattle - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001263
BGLU6
Q682B4
Physiology
T-> A of a splice site at position 168 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001265
BGLU6
Q682B4
Physiology
GAG to stop codon TAG at position 913 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001267
BGLU6
Q682B4
Physiology
GAG to stop codon TAG at position 1138 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Kwa MS; Veenstra JG; Roos MH (1994)
Benzimidazole resistance in Haemonchus contortus is correlated with a conserved mutation at amino ac[...]
1 Additional References
GP00001785
TUB2
P02557
Physiology
Phe200Tyr
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Trichostrongylus colubriformis
(species) D
Intraspecific
Candidate Gene
Kwa MS; Veenstra JG; Roos MH (1994)
Benzimidazole resistance in Haemonchus contortus is correlated with a conserved mutation at amino ac[...]
1 Additional References
GP00001786
TUB2
P02557
Physiology
Phe200Tyr
Trichostrongylus colubriformis
(species)
Trichostrongylus colubriformis
(species) D
beta-tubulin
Trichostrongylus colubriformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001788
TUB2
P02557
Physiology
Phe200Tyr
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001789
TUB2
P02557
Physiology
Phe200Tyr
D
beta-tubulin
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium italicum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001790
TUB2
P02557
Physiology
Phe200Tyr
Penicillium italicum
(species)
Penicillium italicum
(species) D
beta-tubulin
Penicillium italicum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium aurantiogriseum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001791
TUB2
P02557
Physiology
Phe200Tyr
Penicillium aurantiogriseum
(species)
Penicillium aurantiogriseum
(species) D
beta-tubulin
Penicillium aurantiogriseum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium aurantiogriseum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001792
TUB2
P02557
Physiology
Glu198Lys
Penicillium aurantiogriseum
(species)
Penicillium aurantiogriseum
(species) D
beta-tubulin
Penicillium aurantiogriseum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium viridicatum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001793
TUB2
P02557
Physiology
Glu198Lys
Penicillium viridicatum
(species)
Penicillium viridicatum
(species) D
beta-tubulin
Penicillium viridicatum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Clarireedia homoeocarpa
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001794
TUB2
P02557
Physiology
Glu1198Lys
Clarireedia homoeocarpa
(species)
Clarireedia homoeocarpa
(species) D
beta-tubulin
Clarireedia homoeocarpa
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001795
TUB2
P02557
Physiology
Glu1198Lys
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Venturia inaequalis
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001796
TUB2
P02557
Physiology
Glu1198Ala
Venturia inaequalis
(species)
Venturia inaequalis
(species) D
beta-tubulin
Venturia inaequalis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001797
TUB2
P02557
Physiology
Glu1198Ala
D
beta-tubulin
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Monilinia fructicola
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001798
TUB2
P02557
Physiology
Glu1198Lys
Monilinia fructicola
(species)
Monilinia fructicola
(species) D
beta-tubulin
Monilinia fructicola
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium puberulum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001799
TUB2
P02557
Physiology
Glu1198Lys
Penicillium puberulum
(species)
Penicillium puberulum
(species) D
beta-tubulin
Penicillium puberulum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium puberulum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001800
TUB2
P02557
Physiology
Glu1198Ala
Penicillium puberulum
(species)
Penicillium puberulum
(species) D
beta-tubulin
Penicillium puberulum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium digitatum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001801
TUB2
P02557
Physiology
Glu1198Lys
Penicillium digitatum
(species)
Penicillium digitatum
(species) D
beta-tubulin
Penicillium digitatum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium expansum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001802
TUB2
P02557
Physiology
Glu1198Ala
Penicillium expansum
(species)
Penicillium expansum
(species) D
beta-tubulin
Penicillium expansum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benomyl)
Coding,
SNP
Penicillium italicum
(species) D
Intraspecific
Candidate Gene
Koenraadt Harrie; Somerville Shauna C; Jones AL
Characterization of mutations in the beta-tubulin gene of benomyl-resistant field strains of Venturi[...]
1 Additional References
GP00001803
TUB2
P02557
Physiology
Glu198Lys
Penicillium italicum
(species)
Penicillium italicum
(species) D
beta-tubulin
Penicillium italicum
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Teladorsagia circumcincta
(species) D
Intraspecific
Candidate Gene
Elard L; Humbert JF (1999)
Importance of the mutation of amino acid 200 of the isotype 1 beta-tubulin gene in the benzimidazole[...]
GP00001815
TUB2
P02557
Physiology
Phe200Tyr
Teladorsagia circumcincta
(species)
Teladorsagia circumcincta
(species) D
beta-tubulin
Teladorsagia circumcincta
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Prichard R; Oxberry M; Bounhas Y ; et al. (2000
)
Polymerisation and benzimidazole binding assays with recombinant α-and β-tubulins from Haemonchus co[...]
2 Additional References
GP00001816
TUB2
P02557
Physiology
Phe167Tyr - In vitro assays have demonstrated that a Tyr residue in position 167 of b-tubulin impeded BZ binding with recombinant H. contortus b-tubulin (produced in a prokaryote system)
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Cyathostoma
(genus) D
Intraspecific
Candidate Gene
Silvestre A; Cabaret J (2002)
Mutation in position 167 of isotype 1 beta-tubulin gene of Trichostrongylid nematodes: role in benzi[...]
1 Additional References
GP00001817
TUB2
P02557
Physiology
Phe167Tyr - In vitro assays have demonstrated that a Tyr residue in position 167 of b-tubulin impeded BZ binding with recombinant H. contortus and S. cerevisiae b-tubulin (produced in a prokaryote system)
Cyathostoma
(genus)
Cyathostoma
(genus) D
beta-tubulin
Cyathostoma
(genus)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Neurospora crassa
(species) D
Intraspecific
Candidate Gene
Orbach MJ; Porro EB; Yanofsky C (1986)
Cloning and characterization of the gene for beta-tubulin from a benomyl-resistant mutant of Neurosp[...]
GP00001818
TUB2
P02557
Physiology
Phe167Tyr
Neurospora crassa
(species)
Neurospora crassa
(species) D
beta-tubulin
Neurospora crassa
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Teladorsagia circumcincta
(species) D
Intraspecific
Candidate Gene
Silvestre A; Cabaret J (2002)
Mutation in position 167 of isotype 1 beta-tubulin gene of Trichostrongylid nematodes: role in benzi[...]
GP00001819
TUB2
P02557
Physiology
Phe167Tyr
Teladorsagia circumcincta
(species)
Teladorsagia circumcincta
(species) D
beta-tubulin
Teladorsagia circumcincta
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Haemonchus contortus
barber pole worm - (species) D
Intraspecific
Candidate Gene
Ghisi M; Kaminsky R; Mäser P (2007)
Phenotyping and genotyping of Haemonchus contortus isolates reveals a new putative candidate mutatio[...]
GP00001820
TUB2
P02557
Physiology
Glu198Ala
Haemonchus contortus
barber pole worm - (species)
Haemonchus contortus
barber pole worm - (species) D
beta-tubulin
Haemonchus contortus
barber pole worm - (species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
GP00001821
TUB2
P02557
Physiology
Phe200Tyr
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
GP00001822
TUB2
P02557
Physiology
Phe200Tyr
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001823
TUB2
P02557
Physiology
E198A
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001824
TUB2
P02557
Physiology
E198G
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula acuformis
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001825
TUB2
P02557
Physiology
E198K
Oculimacula acuformis
(species)
Oculimacula acuformis
(species) D
beta-tubulin
Oculimacula acuformis
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001826
TUB2
P02557
Physiology
E198A
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001827
TUB2
P02557
Physiology
E198G
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001828
TUB2
P02557
Physiology
E198Q
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Oculimacula yallundae
(species) D
Intraspecific
Candidate Gene
Albertini Catherine; Gredt Michel; Leroux Pierre (1999
)
Mutations of the β-tubulin gene associated with different phenotypes of benzimidazole resistance in [...]
1 Additional References
GP00001829
TUB2
P02557
Physiology
L240F
Oculimacula yallundae
(species)
Oculimacula yallundae
(species) D
beta-tubulin
Oculimacula yallundae
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001830
TUB2
P02557
Physiology
A185P - missense_variant_c.553G>C_3539974 – A185P N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001832
TUB2
P02557
Physiology
stop_gained_HIGH_c.1267C>T_3538394 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001834
TUB2
P02557
Physiology
missense_variant_MODERATE_c.1210G>A_3538451 – D404N N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001836
TUB2
P02557
Physiology
stop_gained_HIGH_c.1135A>T_3539335 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001837
TUB2
P02557
Physiology
stop_gained_HIGH_c.1112C>A_3539358 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001843
TUB2
P02557
Physiology
missense_variant_MODERATE_c.771G>A_3539699 – M257I N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001845
TUB2
P02557
Physiology
stop_gained_HIGH_c.549C>A_3539978 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001846
TUB2
P02557
Physiology
missense_variant_MODERATE_c.434C>T_3540145 – S145F N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001847
TUB2
P02557
Physiology
missense_variant_MODERATE_c.392A>T_3540187 – comment from Steffen Hahnel: The amino acid change is Q131L. This strain was excluded from the original screen because it was slow growing. We re-phenotyped it later (see Sup Fig. 9) N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001854
TUB2
P02557
Physiology
splice_donor_variant and intron_variant – first coding exon – c.166+1G>A_3541427 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001855
TUB2
P02557
Physiology
stop_gained_HIGH_c.153T>G_3541441 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben4)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
Aspergillus nidulans
(species) D
Intraspecific
Candidate Gene
Jung MK; Wilder IB; Oakley BR (1992)
Amino acid alterations in the benA (beta-tubulin) gene of Aspergillus nidulans that confer benomyl r[...]
1 Additional References
GP00001787
TUB2
P02557
Physiology
Phe200Tyr
Aspergillus nidulans
(species)
Aspergillus nidulans
(species) D
beta-tubulin (ben4)
Aspergillus nidulans
(species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001488
BMH1
P29311
Physiology
C>G p.Y216* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001489
BMH1
P29311
Physiology
G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001490
BMH1
P29311
Physiology
A>T p.K217* (2 times independently). Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001491
BMH1
P29311
Physiology
G>A p.D101N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001492
BMH1
P29311
Physiology
T>G p.L230* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001493
BMH1
P29311
Physiology
C>A p.N178K located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001494
BMH1
P29311
Physiology
G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001495
BMH1
P29311
Physiology
G>T p.G174V homozygous functionally disruptive located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001496
BMH1
P29311
Physiology
G>A p.G174D located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001497
BMH1
P29311
Physiology
A>G p.N178S homozygous functionally disruptive located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001498
BMH1
P29311
Physiology
G>A p.G55D located inside the groove where Bmh1p is expected to interact with other proteins as predicted by docking with arbitrary peptides and with two known Bmh1 protein partners (Serine/threonine-protein phosphatase PP1-2 and Heat shock protein Ssb1)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMP receptor IB (BMPRIB)
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Mulsant P; Lecerf F; Fabre S ; et al. (2001)
Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Bo[...]
GP00000146
BMPR-IB
Q9BDI4
Physiology
g.29382188A>G c.914A>G p.Q305R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP receptor IB (BMPRIB)
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00000147
Bmp15
Q9Z0L4
Physiology
c.67C>T p.Q23* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00000148
Bmp15
Q9Z0L4
Physiology
A distinct single T>A transition occurs in FecXI carriers at nucleotide position 92 of the mature peptide . . . The mutation substitutes valine (V) with aspartic acid (D) at residue 31 (residue 299 of unprocessed protein) . . . The FecXI mutation is a non-conservative change in a highly conserved region of the protein
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000149
Bmp15
Q9Z0L4
Physiology
c.950C>T p.T317I
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000150
Bmp15
Q9Z0L4
Physiology
c.1009A>C p.N337H
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002155
Bmp15
Q9Z0L4
Physiology
c.718C>T ; p.Q239* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00002156
Bmp15
Q9Z0L4
Physiology
c.G>A p.C321Y missense nonconservative substitution ; in vitro studies showed that the C53Y mutation was responsible for the impairment of the maturation process of the BMP15 protein resulting in a defective secretion of both the precursor and mature peptide
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002157
Bmp15
Q9Z0L4
Physiology
c.1100G>T p.S367I
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Cis-regulatory,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00002329
Bmp15
Q9Z0L4
Physiology
T>A SPN upstream of the BMP15 gene associated with the prolificacy variability (P = 1.93E-11). Effect of +0.20 lamb per lambing at the heterozygous state.
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP3 or PRKG2
Cranio-facial morphology
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Schoenebeck JJ; Hutchinson SA; Byers A ; et al. (2012)
Variation of BMP3 contributes to dog breed skull diversity.
GP00000152
Bmp3
Q8BHE5
Morphology
F452L in BMP3 ; this missense mutation is in a conserved position and correlates well with small breeds. However; the functional data (zebrafish BMP3 morpholino knockdown) proposed in this article is inconsistent with the mice BMP3 null-mutation
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
BMP3 or PRKG2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
BRANCHED1a (BRC1a)
Plant architecture
Inflorescence architecture
Coding,
SNP
Solanum
(genus) D
Intergeneric or Higher
Candidate Gene
Nicolas M; Rodríguez-Buey ML; Franco-Zorrilla JM ; et al. (2015)
A Recently Evolved Alternative Splice Site in the BRANCHED1a Gene Controls Potato Plant Architecture[...]
GP00000156
BRC1A
F6KB94
Morphology
Morphology
Evolution of an alternative splice site (G>A) that unlocks a short isoform
Capsicum annuum
(species)
Solanum
(genus) D
BRANCHED1a (BRC1a)
Solanum
(genus)
Published - Accepted by Curator
Brevis radix (BRX)
Root size (shorter)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Mouchel CF; Briggs GC; Hardtke CS (2004)
Natural genetic variation in Arabidopsis identifies BREVIS RADIX, a novel regulator of cell prolifer[...]
GP00000157
BRX
Q17TI5
Morphology
premature stop codon in exon 4; TGG>TGA; truncated protein missing approximately two-thirds of the C terminus N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Brevis radix (BRX)
pH tolerance (acidic soil)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Gujas B; Alonso-Blanco C; Hardtke CS (2012)
Natural Arabidopsis brx loss-of-function alleles confer root adaptation to acidic soil.
GP00001236
BRX
Q17TI5
Physiology
K188* (stop codon) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Brevis radix (BRX)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
BTN1A1
Pathogen resistance (virus)
Coding,
SNP
N
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Elleder D; Stepanets V; Melder DC ; et al. (2005)
The receptor for the subgroup C avian sarcoma and leukosis viruses, Tvc, is related to mammalian but[...]
GP00002160
BTN1A1
Q13410
Physiology
g.808011C>A c.165C>A p.C55* N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
BTN1A1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
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
cadherin
Xenobiotic resistance (insecticide)
Coding,
SNP
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Zhang H; Tian W; Zhao J ; et al. (2012)
Diverse genetic basis of field-evolved resistance to Bt cotton in cotton bollworm from China.
GP00000165
BtR
Q19KJ3
Physiology
E1266L R1268E and E1270V - whether each mutation has an effect or only one of them is unknown
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac)
Coding,
SNP
N
Helicoverpa punctigera
(species) D
Intraspecific
Candidate Gene
Walsh T; James B; Chakroun M ; et al. (2018)
Isolating, characterising and identifying a Cry1Ac resistance mutation in field populations of Helic[...]
GP00002055
BtR
Q19KJ3
Physiology
splice site GT mutated in GA so that splicing does not occur correctly and a 58 bp insertion is found in the cDNA sequence of the cadherin gene. This insertion disrupts the coding sequence in cadherin domain 9 causing a downstream frameshift and a premature stop codon for the rest of the protein. This would result in a truncated protein of 1243 amino acids without the putative binding domain; the membrane anchoring domain; presumably retained inside the cell and not exposed to the Cry1Ac; or alternatively; exported into the gut where it would be degraded N
Helicoverpa punctigera
(species)
Helicoverpa punctigera
(species) D
cadherin
Helicoverpa punctigera
(species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
Ostrinia furnacalis
Asian corn borer - (species) D
Intraspecific
Candidate Gene
Jin T; Chang X; Gatehouse AM ; et al. (2014)
Downregulation and mutation of a Cadherin gene associated with Cry1Ac resistance in the Asian Corn B[...]
1 Additional References
GP00002465
A0A1B0RHM4
Physiology
Thr1457Ser
Ostrinia furnacalis
Asian corn borer - (species)
Ostrinia furnacalis
Asian corn borer - (species) D
cadherin
Ostrinia furnacalis
Asian corn borer - (species)
Published - Accepted by Curator
Callipyge (CLPG1)
Muscular mass (double-muscling ; paternal effect)
Cis-regulatory,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Takeda H; Caiment F; Smit M ; et al. (2006)
The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.
5 Additional References
GP00000168
DIO3
Q6DN07
Morphology; Physiology
1bp change in the regulatory region of the DLK1-GTL2 imprinted gene cluster
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
Callipyge (CLPG1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
SNP
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Candidate Gene
Osanai-Futahashi M; Tatematsu KI; Futahashi R ; et al. (2016)
Positional cloning of a Bombyx pink-eyed white egg locus reveals the major role of cardinal in ommoc[...]
GP00002667
cd
Q9VCW2
Morphology
Missense mutation in a conserved motif in exon 9. The tryptophan residue which is converted to arginine in the two pe strains is widely conserved in holometabolous insects. N
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
cardinal
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
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
cathepsin E
Digestion (absence of stomach)
2 Mutations:
Coding
N
Ornithorhynchus anatinus
platypus - (species) D
Intergeneric or Higher
Candidate Gene
Ordoñez GR; Hillier LW; Warren WC ; et al. (2008)
Loss of genes implicated in gastric function during platypus evolution.
GP00001910
CTSE
P14091
Physiology
2 mutations
Monodelphis domestica
gray short-tailed opossum - (species)
Homo sapiens
human - (species)
Ornithorhynchus anatinus
platypus - (species) D
cathepsin E
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
Cauliflower (BoCAL)
Inflorescence morphology
Coding,
SNP
N
Brassica oleracea var. botrytis
(varietas) D
Domesticated
Candidate Gene
Kempin SA; Savidge B; Yanofsky MF (1995)
Molecular basis of the cauliflower phenotype in Arabidopsis.
1 Additional References
GP00000173
CAL
Q39081
Morphology
GAG>TAG; E151*; protein truncated after only 150 of the 255 amino acids of the wild-type protein N
Brassica oleracea
wild cabbage - (species)
Brassica oleracea var. botrytis
(varietas) D
Cauliflower (BoCAL)
Brassica oleracea var. botrytis
(varietas)
Published - Accepted by Curator
CCAAT-enhancer-binding protein alpha (CEBPA)
Hematopoiesis (blood basophil count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001603
CEBPA
P49715
Physiology
C>T at the associated SNP which resides 39kb dowstream from CEBPA near a separate enhancer that influences CEBPA expression along various myeloid lineages. T allele was associated with a 28.6% reduction in enhancer activity.
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CCAAT-enhancer-binding protein alpha (CEBPA)
Homo sapiens
human - (species)
Published - Accepted by Curator
CDKN2A
Coloration (feathers ; sex-linked dilution)
2 Mutations:
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Schwochow Thalmann D; Ring H; Sundström E ; et al. (2017)
The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes [...]
1 Additional References
GP00000178
CDKN2A
P42771
Morphology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
CDKN2A
Gallus gallus
chicken - (species)
Published - Accepted by Curator
CDKN2A
Coloration (feathers ; sex-linked barring)
2 Mutations:
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Schwochow Thalmann D; Ring H; Sundström E ; et al. (2017)
The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes [...]
1 Additional References
GP00002162
CDKN2A
P42771
Morphology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
CDKN2A
Gallus gallus
chicken - (species)
Published - Accepted by Curator
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
Chalk5
Grain chalkiness
Amylose content
Grain yield
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Intraspecific
Linkage Mapping
Li Y; Fan C; Xing Y ; et al. (2014)
Chalk5 encodes a vacuolar H(+)-translocating pyrophosphatase influencing grain chalkiness in rice.
GP00001309
Chalk5
A2Y0L3
Morphology
Physiology
Physiology
Two candidate SNPs at positions -721 and - 485 in promoter region
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Chalk5
Oryza sativa
rice - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide ; benzoylurea)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Douris V; Steinbach D; Panteleri R ; et al. (2016)
Resistance mutation conserved between insects and mites unravels the benzoylurea insecticide mode of[...]
GP00001600
CHS1
A3KCN0
Physiology
T>G p.I1042M (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
Chitin synthase 1 (CHS1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; benzoylurea)
Coding,
SNP
Plutella xylostella
diamondback moth - (species)
Intraspecific
Candidate Gene
Douris V; Steinbach D; Panteleri R ; et al. (2016)
Resistance mutation conserved between insects and mites unravels the benzoylurea insecticide mode of[...]
GP00001601
CHS1
A3KCN0
Physiology
A>T p.I1042F (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species)
Chitin synthase 1 (CHS1)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; etoxazole acaricide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species)
Intraspecific
Linkage Mapping
Demaeght P; Osborne EJ; Odman-Naresh J ; et al. (2014)
High resolution genetic mapping uncovers chitin synthase-1 as the target-site of the structurally di[...]
1 Additional References
GP00001602
chs1
H9U0G2
Physiology
A>T p.I1017F (I1056 in D. melanogaster) located in the C-terminal transmembrane domain
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species)
Chitin synthase 1 (CHS1)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
Chitin synthase 1 (CHS1)
Xenobiotic resistance (insecticide; benzoylurea)
Coding,
SNP
Frankliniella occidentalis
western flower thrips - (species) D
Intraspecific
Candidate Gene
Suzuki Y; Shiotsuki T; Jouraku A ; et al. (2017)
Benzoylurea resistance in western flower thrips Frankliniella occidentalis (Thysanoptera: Thripidae)[...]
GP00002628
CHS1
A3KCN0
Physiology
isoleucine to methionine
Frankliniella occidentalis
western flower thrips - (species)
Frankliniella occidentalis
western flower thrips - (species) D
Chitin synthase 1 (CHS1)
Frankliniella occidentalis
western flower thrips - (species)
Published - Accepted by Curator
chloroquine resistance transporter
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001533
CRT
Q9N623
Physiology
p.Ile356Thr
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
chloroquine resistance transporter
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
chordin
Fin morphology (skeleton; dorsal fin; caudal fin; tail; paired fin)
Coding,
SNP
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Abe G; Lee SH; Chang M ; et al. (2014)
The origin of the bifurcated axial skeletal system in the twin-tail goldfish.
1 Additional References
GP00002346
chdA
W8VTE1
Morphology
stop codon in codon 127. GAG (E) -> TAG (STOP). Predicted to result in a truncated protein lacking the second to fourth CR domains. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
chordin
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
2 Mutations:
Coding
SNP
Erinaceus concolor
southern white-breasted hedgehog - (species) D
Erinaceus europaeus
western European hedgehog - (species) D
Intergeneric or Higher
Candidate Gene
Drabeck DH; Dean AM; Jansa SA (2015)
Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]
GP00000183
CHRNA1
P02708
Physiology
2 mutations
Carnivora
carnivores - (order)
Erinaceus concolor
southern white-breasted hedgehog - (species) D
Erinaceus europaeus
western European hedgehog - (species) D
CHRNA1
Erinaceus concolor
southern white-breasted hedgehog - (species)
Erinaceus europaeus
western European hedgehog - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
2 Mutations:
Coding
SNP
Mellivora capensis
ratel - (species) D
Intergeneric or Higher
Candidate Gene
Drabeck DH; Dean AM; Jansa SA (2015)
Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]
GP00000184
CHRNA1
P02708
Physiology
2 mutations
Carnivora
carnivores - (order)
Mellivora capensis
ratel - (species) D
CHRNA1
Mellivora capensis
ratel - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
4 Mutations:
Coding
SNP
Herpestes ichneumon
Egyptian mongoose - (species) D
Intergeneric or Higher
Candidate Gene
Barchan D; Kachalsky S; Neumann D ; et al. (1992)
How the mongoose can fight the snake: the binding site of the mongoose acetylcholine receptor.
2 Additional References
GP00001686
CHRNA1
P02708
Physiology
4 mutations
Carnivora
carnivores - (order)
Herpestes ichneumon
Egyptian mongoose - (species) D
CHRNA1
Herpestes ichneumon
Egyptian mongoose - (species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
Coding,
SNP
Naja haje
(species) D
Intergeneric or Higher
Candidate Gene
Takacs Z; Wilhelmsen KC; Sorota S (2004)
Cobra ( Naja spp. ) nicotinic acetylcholine receptor exhibits resistance to Erabu sea snake ( Latica[...]
GP00001720
CHRNA1
P02708
Physiology
Phe189Asn - The inhibitory effect on the pharmacological action of the toxin is primarily attributed to the presence of glycosylation at position N189.
Carnivora
carnivores - (order)
Naja haje
(species) D
CHRNA1
Naja haje
(species)
Published - Accepted by Curator
CHRNA1
Xenobiotic resistance (snake venom)
2 Mutations:
Coding
SNP
Sus scrofa
pig - (species) D
Intergeneric or Higher
Candidate Gene
Drabeck DH; Dean AM; Jansa SA (2015)
Why the honey badger don't care: Convergent evolution of venom-targeted nicotinic acetylcholine rece[...]
GP00001721
CHRNA1
P02708
Physiology
2 mutations
Carnivora
carnivores - (order)
Sus scrofa
pig - (species) D
CHRNA1
Sus scrofa
pig - (species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
3 Mutations:
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Amrad A; Moser M; Mandel T ; et al. (2016)
Gain and Loss of Floral Scent Production through Changes in Structural Genes during Pollinator-Media[...]
GP00001391
CNL
A0A172W603
Physiology
3 mutations
Petunia axillaris
(species)
Petunia exserta
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Petunia exserta
(species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
Coding,
SNP
N
Capsella rubella
(species) D
Interspecific
Linkage Mapping
Sas C; Müller F; Kappel C ; et al. (2016)
Repeated Inactivation of the First Committed Enzyme Underlies the Loss of Benzaldehyde Emission afte[...]
GP00001767
CNL
A0A172W603
Physiology
serine-to-arginine exchange at position 453 (T-to-A nucleotide exchange at genomic position 7 539 424) - this mutation is located immediately next to highly conserved amino acids predicted to be involved in adenosine monophosphate and coenzyme A binding; it involves two biochemically very dissimilar amino acids; and the serine at this position is conserved N
Capsella grandiflora
(species)
Capsella rubella
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Capsella rubella
(species)
Published - Accepted by Curator
cly1
Pollen shedding (Cleistogamy; lodicule size)
Cis-regulatory,
SNP
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Nair SK; Wang N; Turuspekov Y ; et al. (2010)
Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...]
1 Additional References
GP00001314
AP2
P47927
Morphology
A>G @position 3084; in a miRNA targeting site.
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
cly1
Hordeum vulgare
(species)
Published - Accepted by Curator
cly1
Pollen shedding (Cleistogamy; lodicule size)
Cis-regulatory,
SNP
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Nair SK; Wang N; Turuspekov Y ; et al. (2010)
Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...]
1 Additional References
GP00001315
AP2
P47927
Morphology
A>C @position 3090; in a miRNA targeting site.
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
cly1
Hordeum vulgare
(species)
Published - Accepted by Curator
CmACS-7
Flower sex determination (male organs)
Coding,
SNP
Cucumis melo
muskmelon - (species)
Domesticated
Linkage Mapping
Boualem A; Fergany M; Fernandez R ; et al. (2008)
A conserved mutation in an ethylene biosynthesis enzyme leads to andromonoecy in melons.
GP00000187
ACS7
Q9STR4
Physiology
A57V
Cucumis melo
muskmelon - (species)
Cucumis melo
muskmelon - (species)
CmACS-7
Cucumis melo
muskmelon - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
1 Additional References
GP00002163
Cmah
Q61419
Physiology
c.179G>T p.G60V
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
1 Additional References
GP00002164
Cmah
Q61419
Physiology
c.364C>T p.P122S
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002166
Cmah
Q61419
Physiology
c.139G>A p.V47M
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002167
Cmah
Q61419
Physiology
c.268T>A p.Y89N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
SNP
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002168
Cmah
Q61419
Physiology
c.1600G>A p.D534N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
coatomer protein complex subunit alpha (COPA)
Coloration (coat)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Dorshorst B; Henegar C; Liao X ; et al. (2015)
Dominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Pr[...]
GP00001329
COPA
P53621
Morphology
c.C>T p.Arg160Cys
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
coatomer protein complex subunit alpha (COPA)
Bos taurus
cattle - (species)
Published - Accepted by Curator
CORIN
Coloration (coat)
Coding,
SNP
Panthera tigris
tiger - (species) D
Intraspecific
Linkage Mapping
Xu X; Dong GX; Schmidt-Küntzel A ; et al. (2017)
The genetics of tiger pelage color variations.
GP00002169
Corin
Q9Z319
Morphology
c.1759C >T p.H587Y
Panthera tigris
tiger - (species)
Panthera tigris
tiger - (species) D
CORIN
Panthera tigris
tiger - (species)
Published - Accepted by Curator
Couch potato
Diapause
Coding,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Schmidt PS; Zhu CT; Das J ; et al. (2008)
An amino acid polymorphism in the couch potato gene forms the basis for climatic adaptation in Droso[...]
GP00000191
cpo
Q01617
Physiology
Ile462Lys
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Couch potato
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
COX18
Low-glucose adaptation (experimental evolution)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Kao KC; Sherlock G (2008)
Molecular characterization of clonal interference during adaptive evolution in asexual populations o[...]
1 Additional References
GP00001708
COX18
P53239
Physiology
Leu59His (T>A at position 617107 according to Table 1) - CTY to CAY position 617107
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
COX18
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
SNP
N
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Darboux I; Charles JF; Pauchet Y ; et al. (2007)
Transposon-mediated resistance to Bacillus sphaericus in a field-evolved population of Culex pipiens[...]
GP00002102
Q95WY5
Physiology
Gln396Stop - nonsense mutation which causes the loss of the C-terminal domain required for a proper anchoring of the receptor to the cell surface and thus disrupts a crucial step in the toxic properties of B. sphaericus toxin. N
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Cpm1
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
CREBRF
Body size (obesity)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Minster RL; Hawley NL; Su CT ; et al. (2016)
A thrifty variant in CREBRF strongly influences body mass index in Samoans.
GP00001444
CREBRF
Q8IUR6
Morphology
c.1370G>A p.Arg457Gln
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
CREBRF
Homo sapiens
human - (species)
Published - Accepted by Curator
Cryptochrome 2 (CRY2) EDI allele
Flowering time
Fruit shape (fruit length)
Flower morphology (ovule number per fruit)
Fertility (percentage of unfertilized ovules)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
El-Din El-Assal S; Alonso-Blanco C; Peeters AJ ; et al. (2001)
A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2.
3 Additional References
GP00000192
CRY2
Q96524
Physiology
Morphology
Morphology
Physiology
V367M
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Cryptochrome 2 (CRY2) EDI allele
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
CXCL16
Pathogen resistance (lymphocyte susceptibility to virus)
Coding,
SNP
Equus caballus
horse - (species)
Intraspecific
Association Mapping
Sarkar S; Bailey E; Go YY ; et al. (2016)
Allelic Variation in CXCL16 Determines CD3+ T Lymphocyte Susceptibility to Equine Arteritis Virus In[...]
GP00001591
CXCL16
F7CTX0
Physiology
4 candidate nonsynonymous substitutions within exon 1(in 2 susceptible variants): (1)c.715A>T p.Tyr40Phe (2)c.801G>C w.Asp49His (3)c.804T>A/G p.Phe50Ile (4)c.810G>A p.Glu52Lys
Equus caballus
horse - (species)
Equus caballus
horse - (species)
CXCL16
Equus caballus
horse - (species)
Published - Accepted by Curator
CYC8
Salt tolerance (experimental evolution)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000195
CYC8
P14922
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
CYC8
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
CYP(T)
Flower morphology (style length)
Coding,
SNP
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001395
CYP734A1
O48786
Morphology
G>C p.Asp126His in exon 2
Primula vulgaris
(species)
Primula vulgaris
(species) D
CYP(T)
Primula vulgaris
(species)
Published - Accepted by Curator
CYP1A2
Enzymatic activity
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Murayama N; Soyama A; Saito Y ; et al. (2004)
Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring v[...]
GP00000199
CYP1A2
P05177
Physiology
F186L
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
CYP1A2
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP2C9
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
1 Additional References
GP00000200
CYP2C9
P11712
Physiology
I359L
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP2C9
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP321A8
Xenobiotic resistance (organophosphate; chlorpyrifos; pyrethroid; cypermethrin; deltamethrin)
Cis-regulatory,
SNP
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Candidate Gene
Hu B; Huang H; Hu S ; et al. (2021)
Changes in both trans- and cis-regulatory elements mediate insecticide resistance in a lepidopteron [...]
GP00002394
CYP321A8
A0A286QUG5
Physiology
A > G at position -197bp in a cis-regulatory region, leading to increased expression of the gene
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
CYP321A8
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
CYP392A16
Xenobiotic resistance (insecticide)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Anazawa Y; Tomita T; Aiki Y ; et al. (2003)
Sequence of a cDNA encoding acetylcholinesterase from susceptible and resistant two-spotted spider m[...]
1 Additional References
GP00002471
Ace
P07140
Physiology
several non-synonymous SNP - exact causing amino acid change(s) unknown. Functional analysis of the putative promoter region from the resistant and susceptible parental strains revealed a higher reporter gene expression confirming the presence of cis-acting regulatory mechanisms.
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
CYP392A16
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
CYP4F2
Xenobiotic resistance (anti-coagulant drug response)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Takeuchi F; McGinnis R; Bourgeois S ; et al. (2009)
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinant[...]
1 Additional References
GP00000203
CYP4F2
P78329
Physiology
V433M
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CYP4F2
Homo sapiens
human - (species)
Published - Accepted by Curator
CYP6AB3
Xenobiotic resistance (imperatorin)
Coding,
SNP
Depressaria pastinacella
(species)
Intraspecific
Candidate Gene
Mao W; Rupasinghe SG; Zangerl AR ; et al. (2007)
Allelic variation in the Depressaria pastinacella CYP6AB3 protein enhances metabolism of plant allel[...]
GP00000204
CYP6AB3
Q7YZS3
Physiology
Ala92Val (and potentiallly 4 other a.a. substitutions)
Depressaria pastinacella
(species)
Depressaria pastinacella
(species)
CYP6AB3
Depressaria pastinacella
(species)
Published - Accepted by Curator
CYP6B1
Xenobiotic resistance
Host plant specialization
Coding,
SNP
Papilio polyxenes
black swallowtail - (species)
Interspecific
Candidate Gene
Li W; Schuler MA; Berenbaum MR (2003)
Diversification of furanocoumarin-metabolizing cytochrome P450 monooxygenases in two papilionids: Sp[...]
GP00000205
CYP6B1
Q04552
Physiology
Physiology
Ile484Phe and probably other a.a. substitutions
Nymphalidae
brushfoots - (family)
Papilio polyxenes
black swallowtail - (species)
CYP6B1
Papilio polyxenes
black swallowtail - (species)
Published - Accepted by Curator
CYP6B4
Xenobiotic resistance
Host plant specialization
Coding,
SNP
Papilio glaucus
eastern tiger swallowtail - (species)
Intergeneric or Higher
Candidate Gene
Mao W; Schuler MA; Berenbaum MR (2007)
Cytochrome P450s in Papilio multicaudatus and the transition from oligophagy to polyphagy in the Pap[...]
GP00000206
CYP6B4
Q27902
Physiology
Physiology
Lys484Ser and probably other a.a. substitutions
Nymphalidae
brushfoots - (family)
Papilio glaucus
eastern tiger swallowtail - (species)
CYP6B4
Papilio glaucus
eastern tiger swallowtail - (species)
Published - Accepted by Curator
CYP6CM1
Xenobiotic resistance (insecticide; imidacloprid)
Cis-regulatory,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Karunker I; Benting J; Lueke B ; et al. (2008)
Over-expression of cytochrome P450 CYP6CM1 is associated with high resistance to imidacloprid in the[...]
GP00002608
A0A6C0PTH9
Physiology
three single-nucleotide polymorphic (SNP) markers in the intron region of CYP6CM1 that discriminate between the resistant and susceptible CYP6CM1 alleles
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
CYP6CM1
Bemisia tabaci
(species)
Published - Accepted by Curator
cyp6d2
Xenobiotic resistance (chemotherapeutic agent, camptothecin)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Thomas AM; Hui C; South A ; et al. (2013)
Common variants of Drosophila melanogaster Cyp6d2 cause camptothecin sensitivity and synergize with [...]
GP00001983
Cyp6g2
Q9V675
Physiology
G>C in CATAGgtaagga...caagCTCT so that intron 3 is not spliced and the codon GCT (spanning the intron) is transformed into CCT. The splicing is defective and intron 3 is transcribed and results in a stop codon and a protein truncated from its native C terminal part.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cyp6d2
Xenobiotic resistance (chemotherapeutic agent, camptothecin)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Thomas AM; Hui C; South A ; et al. (2013)
Common variants of Drosophila melanogaster Cyp6d2 cause camptothecin sensitivity and synergize with [...]
GP00001984
Cyp6g2
Q9V675
Physiology
N438T (A22652974C) and N439T (A22652978G) - exact causing mutation(s) not identified - semiquantitative RT-PCR revealed that this mutant produces little to no Cyp6d2 transcript. The mutation is thus also cis-regulatory.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Coding,
SNP
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002472
cyp6er1
A0A2I8B6P1
Physiology
T318S substitution results in a marked (20-fold) and significant increase in resistance compared to the wild-type susceptible variant.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6P9; CYP6P4 cluster
Xenobiotic resistance (insecticide)
5 Mutations:
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Wondji CS; Irving H; Morgan J ; et al. (2009)
Two duplicated P450 genes are associated with pyrethroid resistance in Anopheles funestus, a major m[...]
2 Additional References
GP00000209
Q2YH43
Physiology
5 mutations
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
CYP6P9; CYP6P4 cluster
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
CYP9A186
Xenobiotic resistance (insecticide; avermectin; emamectin benzoate; abamectin)
Coding,
SNP
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Linkage Mapping
Zuo Y; Shi Y; Zhang F ; et al. (2021)
Genome mapping coupled with CRISPR gene editing reveals a P450 gene confers avermectin resistance in[...]
GP00002393
CYP9A186
A0A8E4AAI2
Physiology
Heterologous expression and in vitro functional assays further confirm that a natural substitution (F116V) found in the substrate recognition site 1 (SRS1) of the CYP9A186 protein results in enhanced metabolism of EB and abamectin
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
CYP9A186
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting; famoxadone)
Coding,
SNP
Plasmopara viticola
(species) D
Intraspecific
Candidate Gene
Chen WJ; Delmotte F; Richard-Cervera S ; et al. (2007)
At least two origins of fungicide resistance in grapevine downy mildew populations.
GP00002041
UQCRFS1
P47985
Physiology
Gly143Ala G1256C
Plasmopara viticola
(species)
Plasmopara viticola
(species) D
cytochrome b
Plasmopara viticola
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting; famoxadone)
Coding,
SNP
Plasmopara viticola
(species) D
Intraspecific
Candidate Gene
Chen WJ; Delmotte F; Richard-Cervera S ; et al. (2007)
At least two origins of fungicide resistance in grapevine downy mildew populations.
GP00002042
UQCRFS1
P47985
Physiology
Gly143Ala G1256C
Plasmopara viticola
(species)
Plasmopara viticola
(species) D
cytochrome b
Plasmopara viticola
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; myxothiazol)
Coding,
SNP
Chlamydomonas reinhardtii
(species) D
Intraspecific
Candidate Gene
Bennoun P; Delosme M; Kück U (1991)
Mitochondrial genetics of Chlamydomonas reinhardtii: resistance mutations marking the cytochrome b g[...]
GP00002043
UQCRFS1
P47985
Physiology
F129L
Chlamydomonas reinhardtii
(species)
Chlamydomonas reinhardtii
(species) D
cytochrome b
Chlamydomonas reinhardtii
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
2 Mutations:
Coding
SNP
Mycena galopus
(species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002044
UQCRFS1
P47985
Physiology
2 mutations
Mycena viridimarginata
(species)
Mycena galopus
(species) D
cytochrome b
Mycena galopus
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
2 Mutations:
Coding
SNP
Strobilurus tenacellus
(species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002045
UQCRFS1
P47985
Physiology
2 mutations
Mycena viridimarginata
(species)
Strobilurus tenacellus
(species) D
cytochrome b
Strobilurus tenacellus
(species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (fungicide; QoI; quinone outside inhibiting)
Coding,
SNP
Schizosaccharomyces pombe
fission yeast - (species) D
Interspecific
Candidate Gene
Kraiczy P; Haase U; Gencic S ; et al. (1996)
The molecular basis for the natural resistance of the cytochrome bc1 complex from strobilurin-produc[...]
GP00002046
UQCRFS1
P47985
Physiology
N261D
Saccharomyces cerevisiae
baker's yeast - (species)
Schizosaccharomyces pombe
fission yeast - (species) D
cytochrome b
Schizosaccharomyces pombe
fission yeast - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (insecticide ; bifenazate)
2 Mutations:
Coding
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Interspecific
Candidate Gene
Van Leeuwen T; Vanholme B; Van Pottelberge S ; et al. (2008)
Mitochondrial heteroplasmy and the evolution of insecticide resistance: non-Mendelian inheritance in[...]
GP00002599
UQCRFS1
P47985
Physiology
2 mutations
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
cytochrome b
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
cytochrome b
Xenobiotic resistance (insecticide ; bifenazate)
2 Mutations:
Coding
SNP
Panonychus citri
citrus red mite - (species) D
Interspecific
Candidate Gene
Van Leeuwen T; Van Nieuwenhuyse P; Vanholme B ; et al. (2011)
Parallel evolution of cytochrome b mediated bifenazate resistance in the citrus red mite Panonychus [...]
GP00002600
UQCRFS1
P47985
Physiology
2 mutations
Panonychus citri
citrus red mite - (species)
Panonychus citri
citrus red mite - (species) D
cytochrome b
Panonychus citri
citrus red mite - (species)
Published - Accepted by Curator
Delta-1-pyrroline-5-carboxylate synthase A
Drought response (drought-induced proline accumulation)
2 Mutations:
Coding
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kesari R; Lasky JR; Villamor JG ; et al. (2012)
Intron-mediated alternative splicing of Arabidopsis P5CS1 and its association with natural variation[...]
GP00001280
P5CSA
P54887
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Delta-1-pyrroline-5-carboxylate synthase A
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
DEP1 (DENSE AND ERECT PANICLES 1)
Nitrogen use (metabolism)
Coding,
SNP
Oryza sativa Japonica Group
Japanese rice - (no rank)
Domesticated
Linkage Mapping
Sun H; Qian Q; Wu K ; et al. (2014)
Heterotrimeric G proteins regulate nitrogen-use efficiency in rice.
GP00001376
P0046G12.12-1
Q67UU9
Physiology
p.Cys105Tyr affecting affinity interaction between the GGL domain of DEP1 and RGB1 subunit
Oryza sativa Indica Group
long-grained rice - (no rank)
Oryza sativa Japonica Group
Japanese rice - (no rank)
DEP1 (DENSE AND ERECT PANICLES 1)
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
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)
Intraspecific
Linkage Mapping
Smith SD; Rausher MD (2011)
Gene loss and parallel evolution contribute to species difference in flower color.
GP00000225
DFRA
P51102
Morphology
12 candidate a.a. substitution in cluding one at a residue known to influence substrate specificity
Iochroma cyaneum
(species)
Iochroma cyaneum
(species)
dihydroflavonol reductase (DFR)
Iochroma cyaneum
(species)
Published - Accepted by Curator
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.
1 Additional References
GP00000230
DMRT3
F6W2R2
Behavior
g.22999655C>A p.S301* Premature stop codon (Ser301Stop) resulting in truncated protein: a single base change at nucleotide position chr23:22999655 causing a premature stop at codon 301 in DMRT3 (DMRT3_Ser301STOP). The allele is expected to encode a truncated protein lacking 1 N
Equus caballus
horse - (species)
Equus caballus
horse - (species)
DMRT3
Equus caballus
horse - (species)
Published - Accepted by Curator
DNA replication factor CDT1
Resistance to UV irradiation
Coding,
SNP
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001507
CDT1
Q9H211
Physiology
p.Ala537Val
Rhinopithecus avunculus
Tonkin snub-nosed monkey - (species)
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species) D
Rhinopithecus bieti
black snub-nosed monkey - (species) D
DNA replication factor CDT1
Rhinopithecus strykeri
Burmese snub-nosed monkey - (species)
Rhinopithecus bieti
black snub-nosed monkey - (species)
Published - Accepted by Curator
DNA replication factor CDT1 [[likely pseudo-replicate of other CDT1 entry by introgression]]
Resistance to UV irradiation
Coding,
SNP
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
Interspecific
Association Mapping
Yu L; Wang GD; Ruan J ; et al. (2016)
Genomic analysis of snub-nosed monkeys (Rhinopithecus) identifies genes and processes related to hig[...]
GP00001508
CDT1
Q9H211
Physiology
p.Ala537Val
Rhinopithecus brelichi
Gray snub-nosed monkey - (species)
Rhinopithecus roxellana
golden snub-nosed monkey - (species) D
DNA replication factor CDT1 [[likely pseudo-replicate of other CDT1 entry by introgression]]
Rhinopithecus roxellana
golden snub-nosed monkey - (species)
Published - Accepted by Curator
DOG1 (DELAY OF GERMINATION 1)
Seed dormancy
Cis-regulatory,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Kerdaffrec E; Filiault DL; Korte A ; et al. (2016)
Multiple alleles at a single locus control seed dormancy in Swedish Arabidopsis.
GP00001397
DOG1
A0SVK0
Physiology
At least 3 haplotypes defined by 4 SNPs in a putative regulatory region of DOG-1.
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
DOG1 (DELAY OF GERMINATION 1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
DTH2
Flowering time
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Wu W; Zheng XM; Lu G ; et al. (2013)
Association of functional nucleotide polymorphisms at DTH2 with the northward expansion of rice cult[...]
GP00000239
DTH2
O82118
Physiology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
DTH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
Duffy
Pathogen resistance (Plasmodium; malaria parasite) (malaria)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Tournamille C; Colin Y; Cartron JP ; et al. (1995)
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-n[...]
GP00000240
ACKR1
Q16570
Physiology
T to C substitution in 5' region at pos -46
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Duffy
Homo sapiens
human - (species)
Published - Accepted by Curator
EARLY FLOWERING 3(ELF3) [possible pseudo-replicate]
Plant growth (hypocotyl elongation ; temperature-dependent)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Raschke A; Ibañez C; Ullrich KK ; et al. (2015)
Natural variants of ELF3 affect thermomorphogenesis by transcriptionally modulating PIF4-dependent a[...]
GP00001245
ELF3
O82804
Morphology
A362V
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
EARLY FLOWERING 3(ELF3) [possible pseudo-replicate]
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
EARLY FLOWERING 3/ EARLY MATURITY 8
Flowering time
Coding,
SNP
N
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Faure S; Turner AS; Gruszka D ; et al. (2012)
Mutation at the circadian clock gene EARLY MATURITY 8 adapts domesticated barley (Hordeum vulgare) t[...]
GP00000245
ELF3
O82804
Physiology
Premature stop codon; C-to-T point mutation in exon 2 N
Hordeum vulgare
(species)
Hordeum vulgare
(species)
EARLY FLOWERING 3/ EARLY MATURITY 8
Hordeum vulgare
(species)
Published - Accepted by Curator
Early flowering1 (EL1)
Flowering time (heading date)
Coding,
SNP
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Linkage Mapping
Kwon CT; Yoo SC; Koo BH ; et al. (2014)
Natural variation in Early flowering1 contributes to early flowering in japonica rice under long day[...]
GP00001636
HD16
Q852L0
Physiology
G476C p.Gly159Ala in the serine/threonine kinase domain leading to non-functional protein
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Early flowering1 (EL1)
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
Early flowering1 (EL1)
Flowering time (heading date)
Coding,
SNP
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Linkage Mapping
Kwon CT; Yoo SC; Koo BH ; et al. (2014)
Natural variation in Early flowering1 contributes to early flowering in japonica rice under long day[...]
GP00001637
HD16
Q852L0
Physiology
G991A p.Ala331Thr in the serine/threonine kinase domain leading to non-functional protein
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Early flowering1 (EL1)
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
5 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Rebeiz M; Pool JE; Kassner VA ; et al. (2009)
Stepwise modification of a modular enhancer underlies adaptation in a Drosophila population.
GP00000253
e
O76858
Morphology
5 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Cis-regulatory,
SNP
Drosophila malerkotliana
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001544
e
O76858
Morphology
5 changes including 4 SNP and 1bp indel in the first intron
Drosophila malerkotliana
(species)
Drosophila malerkotliana
(species)
ebony
Drosophila malerkotliana
(species)
Published - Accepted by Curator
EDAR
Hair thickness
Eccrine gland density
Ear traits = lobe size / lobe attachment / helix rolling / ear protrusion
Tooth morphology (shovel-shaped incisors)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Fujimoto A; Kimura R; Ohashi J ; et al. (2008)
A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickne[...]
4 Additional References
GP00000256
EDAR
Q9UNE0
Morphology
Morphology
Morphology
Morphology
p.Val370Ala; functionally validated in mouse
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EDAR
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Simonson TS; Yang Y; Huff CD ; et al. (2010)
Genetic evidence for high-altitude adaptation in Tibet.
3 Additional References
GP00000261
EGLN1
Q9GZT9
Physiology
possibly D4E
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
EGLN1
Homo sapiens
human - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Panthera uncia
snow leopard - (species) D
Interspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001358
EGLN1
Q9GZT9
Physiology
p.Met39Lys
Panthera
(genus)
Panthera uncia
snow leopard - (species) D
EGLN1
Panthera uncia
snow leopard - (species)
Published - Accepted by Curator
EGLN1
Hypoxia response
Coding,
SNP
Heterocephalus glaber
naked mole-rat - (species) D
Interspecific
Association Mapping
Kim EB; Fang X; Fushan AA ; et al. (2011)
Genome sequencing reveals insights into physiology and longevity of the naked mole rat.
GP00001759
EGLN1
Q9GZT9
Physiology
unique amino-acid changes in different positions of EGLN1 (Pro15, Arg17 and Arg36)
Rodentia
rodent - (order)
Heterocephalus glaber
naked mole-rat - (species) D
EGLN1
Heterocephalus glaber
naked mole-rat - (species)
Published - Accepted by Curator
Ehd1 (Response regulator)
Flowering time
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Doi K; Izawa T; Fuse T ; et al. (2004)
Ehd1, a B-type response regulator in rice, confers short-day promotion of flowering and controls FT-[...]
GP00000263
EHD1
Q9H4M9
Physiology
G218R in highly conserved region in GARP domain
Oryza glaberrima
African rice - (species)
Oryza sativa
rice - (species)
Ehd1 (Response regulator)
Oryza sativa
rice - (species)
Published - Accepted by Curator
enamelysin (MMP20)
Tooth composition (no enamel production)
Coding,
SNP
N
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Cheng J ; et al. (2011)
Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]
GP00001941
MMP20
O60882
Physiology
opal stop codon (TGA) in the propeptide-coding region of MMP20 exon 2 in a single individual of the pygmy sperm whale Kogia breviceps N
Kogia sima
dwarf sperm whale - (species)
Kogia breviceps
pygmy sperm whale - (species) D
enamelysin (MMP20)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000267
END3
P39013
Physiology
Physiology
S258N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
END3
Temperature tolerance
Virulence
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000268
END3
P39013
Physiology
Physiology
D268N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
END3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Endothelin receptor B
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Metallinos DL; Bowling AT; Rine J (1998)
A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome:[...]
2 Additional References
GP00000269
Ednrb
P48302
Morphology
Ile118Lys
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Endothelin receptor B
Equus caballus
horse - (species)
Published - Accepted by Curator
Endothelin receptor B
Coloration (feathers ; white-spotting)
Coding,
SNP
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Miwa M; Inoue-Murayama M; Aoki H ; et al. (2007)
Endothelin receptor B2 (EDNRB2) is associated with the panda plumage colour mutation in Japanese qua[...]
GP00000270
Ednrb
P48302
Morphology
c.995G>A p.R332H
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Endothelin receptor B
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kinoshita K; Akiyama T; Mizutani M ; et al. (2014)
Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]
GP00001360
EDNRB2
W8VUK4
Morphology
c.1008G>T p.Cys244Phe
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Endothelin receptor B2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers)
Coding,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kinoshita K; Akiyama T; Mizutani M ; et al. (2014)
Endothelin receptor B2 (EDNRB2) is responsible for the tyrosinase-independent recessive white (mo(w)[...]
GP00001361
EDNRB2
W8VUK4
Morphology
c.G1272A p.Arg332His
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Endothelin receptor B2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers ; white-spotting)
Coding,
SNP
Anas platyrhynchos
mallard - (species) D
Domesticated
Candidate Gene
Li L; Li D; Liu L ; et al. (2015)
Endothelin Receptor B2 (EDNRB2) Gene Is Associated with Spot Plumage Pattern in Domestic Ducks (Anas[...]
GP00002378
EDNRB2
W8VUK4
Morphology
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
Endothelin receptor B2
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
Enhanced shoot growth under mannitol stress 2 (EGM2)
Plant growth (shoot growth under stress)
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Trontin C; Kiani S; Corwin JA ; et al. (2014)
A pair of receptor-like kinases is responsible for natural variation in shoot growth response to man[...]
GP00001630
At1g11300
Q9SXB4
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Enhanced shoot growth under mannitol stress 2 (EGM2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
eosinophil-derived neurotoxin (EDN)
Increase in antiviral ribonuclease activity
Coding,
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Zhang J; Rosenberg HF (2002)
Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates.
GP00000272
RNASE2
P10153
Physiology
Arg64Ser
Primates
(order)
Catarrhini
(parvorder)
eosinophil-derived neurotoxin (EDN)
Catarrhini
(parvorder)
Published - Accepted by Curator
eosinophil-derived neurotoxin (EDN)
Increase in antiviral ribonuclease activity
Coding,
SNP
Catarrhini
(parvorder)
Intergeneric or Higher
Candidate Gene
Zhang J; Rosenberg HF (2002)
Complementary advantageous substitutions in the evolution of an antiviral RNase of higher primates.
GP00000273
RNASE2
P10153
Physiology
Thr132Arg
Primates
(order)
Catarrhini
(parvorder)
eosinophil-derived neurotoxin (EDN)
Catarrhini
(parvorder)
Published - Accepted by Curator
EPAS1
Hypoxia response
Coding,
SNP
Panthera uncia
snow leopard - (species) D
Interspecific
Association Mapping
Cho YS; Hu L; Hou H ; et al. (2013)
The tiger genome and comparative analysis with lion and snow leopard genomes.
GP00001357
EPAS1
Q99814
Physiology
two species-specific amino acid changes: Val663Ile and Cys794Arg - whether both or only one is affecting the phenotype is unknown
Panthera
(genus)
Panthera uncia
snow leopard - (species) D
EPAS1
Panthera uncia
snow leopard - (species)
Published - Accepted by Curator
EPAS1
Hypoxia response
Coding,
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Association Mapping
Schweizer RM; Velotta JP; Ivy CM ; et al. (2019)
Physiological and genomic evidence that selection on the transcription factor Epas1 has altered card[...]
GP00002062
EPAS1
Q99814
Physiology
non-synonymous polymorphism located at site 755 in the 14th exon that changes threonine to methionine Thr755Met
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
EPAS1
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
EphB2
Feathers (crest morphology)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Shapiro MD; Kronenberg Z; Li C ; et al. (2013)
Genomic diversity and evolution of the head crest in the rock pigeon.
1 Additional References
GP00000275
EPHB2
P28693
Morphology
Arg758Cys (C>T) p.R758C
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
EphB2
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
EphB2
Feathers (crest morphology)
Coding,
SNP
Streptopelia risoria
ringneck dove - (species) D
Domesticated
Candidate Gene
Vickrey AI; Domyan ET; Horvath MP ; et al. (2015)
Convergent Evolution of Head Crests in Two Domesticated Columbids Is Associated with Different Misse[...]
GP00000276
EPHB2
P28693
Morphology
Gly636Arg (G>A)
Streptopelia risoria
ringneck dove - (species)
Streptopelia risoria
ringneck dove - (species) D
EphB2
Streptopelia risoria
ringneck dove - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Eleusine indica
goosegrass - (species) D
Intraspecific
Candidate Gene
Baerson SR; Rodriguez DJ; Tran M ; et al. (2002)
Glyphosate-resistant goosegrass. Identification of a mutation in the target enzyme 5-enolpyruvylshik[...]
GP00001888
At2g45300
P05466
Physiology
Pro106Ser leading to 2-4-fold resistance
Eleusine indica
goosegrass - (species)
Eleusine indica
goosegrass - (species) D
EPSPS
Eleusine indica
goosegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001889
At2g45300
P05466
Physiology
Pro106Ser leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001890
At2g45300
P05466
Physiology
Pro106Leu leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Echinochloa colona
(species) D
Intraspecific
Candidate Gene
Morran S; Moretti ML; Brunharo CA ; et al. (2018)
Multiple target site resistance to glyphosate in junglerice (Echinochloa colona) lines from Californ[...]
GP00001891
At2g45300
P05466
Physiology
Pro106Thr leading to resistance
Echinochloa colona
(species)
Echinochloa colona
(species) D
EPSPS
Echinochloa colona
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Amaranthus tuberculatus
(species) D
Intraspecific
Candidate Gene
Bell Michael S; Hager Aaron G; Tranel Patrick J (2013
)
Multiple resistance to herbicides from four site-of-action groups in waterhemp (Amaranthus tubercula[...]
GP00001892
At2g45300
P05466
Physiology
resistance not due to EPSPS amplification; partly due to P106S mutation
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
EPSPS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Jasieniuk Marie; Ahmad Riaz; Sherwood Anna M ; et al. (2008
)
Glyphosate-resistant Italian ryegrass (Lolium multiflorum) in California: distribution, response to [...]
GP00001896
At2g45300
P05466
Physiology
Pro106Ser
Lolium multiflorum
Italian ryegrass - (species)
Lolium multiflorum
Italian ryegrass - (species) D
EPSPS
Lolium multiflorum
Italian ryegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Jasieniuk Marie; Ahmad Riaz; Sherwood Anna M ; et al. (2008
)
Glyphosate-resistant Italian ryegrass (Lolium multiflorum) in California: distribution, response to [...]
GP00001897
At2g45300
P05466
Physiology
Pro106Ala conferring 5-15-fold resistance
Lolium multiflorum
Italian ryegrass - (species)
Lolium multiflorum
Italian ryegrass - (species) D
EPSPS
Lolium multiflorum
Italian ryegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Eleusine indica
goosegrass - (species) D
Intraspecific
Candidate Gene
Ng CH; Wickneswari R; Salmijah S ; et al. (2003
)
Gene polymorphisms in glyphosate‐resistant and‐susceptible biotypes of Eleusine indica from Malaysia[...]
GP00001898
At2g45300
P05466
Physiology
Pro106Thr leading to 3-fold resistance
Eleusine indica
goosegrass - (species)
Eleusine indica
goosegrass - (species) D
EPSPS
Eleusine indica
goosegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Digitaria insularis
(species) D
Intraspecific
Candidate Gene
de Carvalho LB; Alves PL; González-Torralva F ; et al. (2012)
Pool of resistance mechanisms to glyphosate in Digitaria insularis.
GP00001899
At2g45300
P05466
Physiology
Pro106Thr
Digitaria insularis
(species)
Digitaria insularis
(species) D
EPSPS
Digitaria insularis
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Kaundun SS; Dale RP; Zelaya IA ; et al. (2011)
A novel P106L mutation in EPSPS and an unknown mechanism(s) act additively to confer resistance to g[...]
GP00001900
At2g45300
P05466
Physiology
Pro106Leu conferring a 1.7-fold resistance increase to glyphosate at the whole plant level
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Bostamam Yazid; Malone Jenna M; Dolman Fleur C ; et al. (2012
)
Rigid ryegrass (Lolium rigidum) populations containing a target site mutation in EPSPS and reduced g[...]
GP00001901
At2g45300
P05466
Physiology
Pro106Ser
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Bostamam Yazid; Malone Jenna M; Dolman Fleur C ; et al. (2012
)
Rigid ryegrass (Lolium rigidum) populations containing a target site mutation in EPSPS and reduced g[...]
GP00001902
At2g45300
P05466
Physiology
Pro106Thr
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Coding,
SNP
Lolium rigidum
(species) D
Intraspecific
Candidate Gene
Yu Q; Cairns A; Powles S (2007)
Glyphosate, paraquat and ACCase multiple herbicide resistance evolved in a Lolium rigidum biotype.
GP00001903
At2g45300
P05466
Physiology
Pro106Ala
Lolium rigidum
(species)
Lolium rigidum
(species) D
EPSPS
Lolium rigidum
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000281
ERG11
P10613
Physiology
Y132H
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000282
ERG11
P10613
Physiology
S405F
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000283
ERG11
P10613
Physiology
G464S
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG11 = CYP51A1
Xenobiotic resistance
Coding,
SNP
Candida albicans
(species) D
Intraspecific
Candidate Gene
Sanglard D; Ischer F; Koymans L ; et al. (1998)
Amino acid substitutions in the cytochrome P-450 lanosterol 14alpha-demethylase (CYP51A1) from azole[...]
GP00000284
ERG11
P10613
Physiology
R467K
Candida albicans
(species)
Candida albicans
(species) D
ERG11 = CYP51A1
Candida albicans
(species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000286
ERG3
P32353
Physiology
Arg63Stop A187T in line 21 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001744
ERG3
P32353
Physiology
Ser76Stop C227A in line 22 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001745
ERG3
P32353
Physiology
Ser95Stop C284A in line 23 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001746
ERG3
P32353
Physiology
Trp205Stop G615A in line 24 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001747
ERG3
P32353
Physiology
Trp205Stop G615A in line 25 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001748
ERG3
P32353
Physiology
Trp205Stop G615A in line 26 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001749
ERG3
P32353
Physiology
Trp205Stop G615A in line 27 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001751
ERG3
P32353
Physiology
Trp219Stop G656A in line 29 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001752
ERG3
P32353
Physiology
Gly235Ser G703A in line 30 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001753
ERG3
P32353
Physiology
Tyr299Stop C897A in line 31 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001754
ERG3
P32353
Physiology
Gly300Arg G898C in line 32 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001755
ERG3
P32353
Physiology
Asp307Ala A920C in line 33 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG7
Xenobiotic resistance (drug)
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000289
ERG7
P38604
Physiology
Phe699Leu
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG7
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Newcomb RD; Campbell PM; Ollis DL ; et al. (1997)
A single amino acid substitution converts a carboxylesterase to an organophosphorus hydrolase and co[...]
GP00000294
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia cuprina
Australian sheep blowfly - (species)
Intraspecific
Candidate Gene
Jackson CJ; Liu JW; Carr PD ; et al. (2013)
Structure and function of an insect α-carboxylesterase (αEsterase7) associated with insecticide resi[...]
GP00000295
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia cuprina
Australian sheep blowfly - (species)
Lucilia cuprina
Australian sheep blowfly - (species)
esterase isozyme E3
Lucilia cuprina
Australian sheep blowfly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species)
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000296
LcaE7
Q25252
Physiology
Trp251Leu
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species)
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000297
LcaE7
Q25252
Physiology
Trp251Ser
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Lucilia sericata
common green bottle fly - (species) D
Intraspecific
Candidate Gene
Hartley CJ; Newcomb RD; Russell RJ ; et al. (2006)
Amplification of DNA from preserved specimens shows blowflies were preadapted for the rapid evolutio[...]
GP00000298
LcaE7
Q25252
Physiology
Gly137Asp
Lucilia sericata
common green bottle fly - (species)
Lucilia sericata
common green bottle fly - (species) D
esterase isozyme E3
Lucilia sericata
common green bottle fly - (species)
Published - Accepted by Curator
esterase isozyme E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Cochliomyia hominivorax
primary screw-worm - (species) D
Intraspecific
Candidate Gene
da Silva NM; de Carvalho RA; de Azeredo-Espin AM (2011)
Acetylcholinesterase cDNA sequencing and identification of mutations associated with organophosphate[...]
2 Additional References
GP00002584
alphaE7
A0A0G3Z837
Physiology
G137D
Cochliomyia hominivorax
primary screw-worm - (species)
Cochliomyia hominivorax
primary screw-worm - (species) D
esterase isozyme E3
Cochliomyia hominivorax
primary screw-worm - (species)
Published - Accepted by Curator
esterase isozyme E7 = E3
Xenobiotic resistance (insecticide)
Coding,
SNP
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Claudianos C; Russell RJ; Oakeshott JG (1999)
The same amino acid substitution in orthologous esterases confers organophosphate resistance on the [...]
GP00000299
LcaE7
Q25252
Physiology
Gly137Asp
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
esterase isozyme E7 = E3
Musca domestica
house fly - (species)
Published - Accepted by Curator
ETC2
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Hilscher J; Schlötterer C; Hauser MT (2009)
A single amino acid replacement in ETC2 shapes trichome patterning in natural Arabidopsis population[...]
GP00001237
ETC2
Q84RD1
Morphology
K19E
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ETC2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FAAH
Anxiety (fear reduction)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Dincheva I; Drysdale AT; Hartley CA ; et al. (2015)
FAAH genetic variation enhances fronto-amygdala function in mouse and human.
GP00000301
Faah
P97612
Behavior
Pro129Thr (C385A; common variant rs324420)
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FAAH
Homo sapiens
human - (species)
Published - Accepted by Curator
FAD2A
Oil composition (oleate levels)
Coding,
SNP
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Jung S; Powell G; Moore K ; et al. (2000)
The high oleate trait in the cultivated peanut [Arachis hypogaea L]. II. Molecular basis and genetic[...]
GP00002075
FAD2A
E2GJC1
Physiology
D150N in a residue that is absolutely conserved among other desaturases N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2A
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
ferredoxin
Xenobiotic resistance (artemisinin)
Coding,
SNP
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
Intraspecific
Association Mapping
Miotto O; Amato R; Ashley EA ; et al. (2015)
Genetic architecture of artemisinin-resistant Plasmodium falciparum.
GP00001530
PF3D7_1318100
Q8IED5
Physiology
p.Asp193Tyr
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Plasmodium falciparum
malaria parasite P. falciparum - (species) D
ferredoxin
Plasmodium falciparum
malaria parasite P. falciparum - (species)
Published - Accepted by Curator
FGF20
Organ loss (feathers ; scales)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Wells KL; Hadad Y; Ben-Avraham D ; et al. (2012)
Genome-wide SNP scan of pooled DNA reveals nonsense mutation in FGF20 in the scaleless line of feath[...]
GP00002171
FGF20
Q9NP95
Morphology
g.62878803A>T c.535A>T p.R179* N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
FGF20
Gallus gallus
chicken - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000310
Fgf5
P15656
Morphology
Cys95Phe
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Legrand R; Tiret L; Abitbol M (2014)
Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.
GP00001370
Fgf5
P15656
Morphology
c.245G>A p.W82* nonsense mutation leading to stop codon at position 82 N
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
FGF5
Equus asinus
ass - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dierks C; Mömke S; Philipp U ; et al. (2013)
Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
1 Additional References
GP00002174
Fgf5
P15656
Morphology
g.4528639C>T c.578C>T p.A193V
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dierks C; Mömke S; Philipp U ; et al. (2013)
Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
1 Additional References
GP00002175
Fgf5
P15656
Morphology
g.8193T>A splice site
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Cavia porcellus
domestic guinea pig - (species) D
Domesticated
Candidate Gene
Yu F; Liu Z; Jiao S ; et al. (2018)
A nonsense mutation in the FGF5 gene is associated with the long-haired phenotype in domestic guinea[...]
GP00002178
Fgf5
P15656
Morphology
c.403C>T p.Arg135* N
Cavia porcellus
domestic guinea pig - (species)
Cavia porcellus
domestic guinea pig - (species) D
FGF5
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Lama glama
llama - (species) D
Vicugna pacos
alpaca - (species) D
Domesticated
Candidate Gene
Daverio MS; Vidal-Rioja L; Frank EN ; et al. (2017)
Molecular characterization of the llama FGF5 gene and identification of putative loss of function mu[...]
2 Additional References
GP00002180
Fgf5
P15656
Morphology
transition C>T at position 499 downstream of the ATG codon with transcriptional readthrough ; difference in post-transcriptional readthrough may underlie the different fleece types of the alpaca suri and huacaya breeds ; derived allele was introgressed from lamas to alpacas N
Lama guanicoe
guanaco - (species)
Lama glama
llama - (species) D
Vicugna pacos
alpaca - (species) D
FGF5
Lama glama
llama - (species)
Vicugna pacos
alpaca - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Housley DJ; Venta PJ (2006)
The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability.
GP00002443
Fgf5
P15656
Morphology
Presence of a duplication in a relatively non-conserved region of the gene and a missense mutation resulting in the substitution of Phe for Cys in a highly conserved region. Genotyping of 218 dogs from three breeds fixed for long hair; eight breeds fixed for short hair and five breeds in which long hair is segregating provided evidence that the missense mutation is associated with the hair-length differences among these breeds.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Fgfr1a1
Scales (loss)
Coding,
SNP
Cyprinus carpio
common carp - (species) D
Domesticated
Candidate Gene
Rohner N; Bercsényi M; Orbán L ; et al. (2009)
Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.
GP00000313
fgfr1a
Q90Z00
Morphology
Glu664Lys
Cyprinus carpio
common carp - (species)
Cyprinus carpio
common carp - (species) D
Fgfr1a1
Cyprinus carpio
common carp - (species)
Published - Accepted by Curator
FGFR3
Body size (bone length)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Beever JE; Smit MA; Meyers SN ; et al. (2006)
A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodyspla[...]
1 Additional References
GP00002184
FGFR3
P22607
Morphology
c.1719T>A p.V700E
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
FGFR3
Ovis aries
sheep - (species)
Published - Accepted by Curator
fibrinogen-related protein 1 (FREP1)
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001465
3290292
Q5TWN1
Physiology
c.T1325A p.Q442L
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
fibrinogen-related protein 1 (FREP1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
fibrinogen-related protein 30 (FBN30)
Pathogen resistance (parasite)
Coding,
SNP
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Li J; Wang X; Zhang G ; et al. (2013)
Genome-block expression-assisted association studies discover malaria resistance genes in Anopheles [...]
GP00001464
1270165
Q7QIK0
Physiology
c.T28C p.F10L
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
fibrinogen-related protein 30 (FBN30)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
fiz
Body size
3 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Glaser-Schmitt A; Parsch J (2018)
Functional characterization of adaptive variation within a cis-regulatory element influencing Drosop[...]
GP00002017
fiz
Q9VY04
Morphology
3 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
fiz
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers)
Coding,
SNP
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Hoshino A; Morita Y; Choi JD ; et al. (2003)
Spontaneous mutations of the flavonoid 3'-hydroxylase gene conferring reddish flowers in the three m[...]
GP00002087
CYP75B1
Q9SD85
Morphology
nonsense mutation caused by a single C to T base transition generating the stop codon TGA. N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
flavonoid 3'-hydroxylase (F3'H)
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
SNP
Glycine soja
(species)
Intraspecific
Linkage Mapping
Takahashi R; Dubouzet JG; Matsumura H ; et al. (2010)
A new allele of flower color gene W1 encoding flavonoid 3'5'-hydroxylase is responsible for light pu[...]
GP00000323
CYP75A2
P37120
Morphology
V210M (uncertain); no expression level differences detected
Glycine soja
(species)
Glycine soja
(species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
SNP
Pisum sativum
pea - (species)
Domesticated
Candidate Gene
Moreau C; Ambrose MJ; Turner L ; et al. (2012)
The B gene of pea encodes a defective flavonoid 3',5'-hydroxylase, and confers pink flower color.
GP00000326
CYP75A2
P37120
Morphology
G111E
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Pisum sativum
pea - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000330
FLC
Q9S7Q7
Physiology
Substitution creating premature Stop (codon 158) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
2 Mutations:
Cis-regulatory
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Coustham V; Li P; Strange A ; et al. (2012)
Quantitative modulation of polycomb silencing underlies natural variation in vernalization.
1 Additional References
GP00000331
FLC
Q9S7Q7
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000335
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Coding,
SNP
Capsella rubella
(species)
Intraspecific
Linkage Mapping
Guo YL; Todesco M; Hagmann J ; et al. (2012)
Independent FLC mutations as causes of flowering-time variation in Arabidopsis thaliana and Capsella[...]
GP00000337
FLC
Q9S7Q7
Physiology
Splice site mutation introducing frameshift; removing the last 35 of 198 amino acids
Capsella rubella
(species)
Capsella rubella
(species)
FLC (Flowering Locus C)
Capsella rubella
(species)
Published - Accepted by Curator
FLC-1
Flowering time
Coding,
SNP
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Yuan YX; Wu J; Sun RF ; et al. (2009)
A naturally occurring splicing site mutation in the Brassica rapa FLC1 gene is associated with varia[...]
GP00000338
FLC
Q9S7Q7
Physiology
GA substitution disrupting Splice Site
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
FLC-1
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
foraging
Food-search behavior
Cis-regulatory,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Osborne KA; Robichon A; Burgess E ; et al. (1997)
Natural behavior polymorphism due to a cGMP-dependent protein kinase of Drosophila.
2 Additional References
GP00000350
for
Q03043
Behavior
The fors (sitter) and forR (rover) alleles differ in a SNP that lies within a predicted Mad protein-binding site in a region upstream of the pr4 transcription start site. The SNP is a C in fors and an A in forR (the latter is predicted to reduce Mad protein binding).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
foraging
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
FoxP2
Gene expression change (transcriptional targets)
Coding,
SNP
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Konopka G; Bomar JM; Winden K ; et al. (2009)
Human-specific transcriptional regulation of CNS development genes by FOXP2.
1 Additional References
GP00000353
FOXP2
O15409
Behavior
2 aa changes (T303N and N325S) resulting in changes of the regulated transcriptional targets in a human neuron cell line. Speculatively; these changes could be associated with language skills but these connections with null-mutant phenotypes are dubious - whether one or both mutations are required is unknown
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
FoxP2
Homo sapiens
human - (species)
Published - Accepted by Curator
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Metal tolerance
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Pineau C; Loubet S; Lefoulon C ; et al. (2012)
Natural variation at the FRD3 MATE transporter locus reveals cross-talk between Fe homeostasis and Z[...]
GP00000355
DTX43
Q9SFB0
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FRD3 (FERRIC REDUCTASE DEFECTIVE3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000363
FRI
P0DH90
Physiology
Trp240* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000364
FRI
P0DH90
Physiology
Glu361* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Gazzani S; Gendall AR; Lister C ; et al. (2003)
Analysis of the molecular basis of flowering time variation in Arabidopsis accessions.
GP00000365
FRI
P0DH90
Physiology
K232* in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
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[...]
4 Additional References
GP00000378
FTO
Q9C0B1
Morphology; Physiology
rs1421085 T-to-C single-nucleotide variant disrupts a conserved motif for the ARID5B repressor
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FTO
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000381
FUT2
Q10981
Physiology
premature stop at codon 143: TGG>TGA N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
1 Additional References
GP00000382
FUT2
Q10981
Physiology
Ile129Phe
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
GATA-binding protein 2 (GATA2)
Hematopoiesis (blood basophil count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001610
GATA2
P23769
Physiology
G>A at the associated SNP. Another variant (rs6782812) in a pleiotropic myeloid enhancer near GATA2 reduced enhancer activity by 69%
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GATA-binding protein 2 (GATA2)
Homo sapiens
human - (species)
Published - Accepted by Curator
GCNF (NR6A1)
Vertebrae number
Coding,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Mikawa S; Morozumi T; Shimanuki S ; et al. (2007)
Fine mapping of a swine quantitative trait locus for number of vertebrae and analysis of an orphan n[...]
GP00000386
Nr6a1
Q64249
Morphology
Pro192Leu
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
GCNF (NR6A1)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Silva BD; Castro EA; Souza CJ ; et al. (2011)
A new polymorphism in the Growth and Differentiation Factor 9 (GDF9) gene is associated with increas[...]
GP00000390
GDF9
O60383
Physiology
F345C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Nicol L; Bishop SC; Pong-Wong R ; et al. (2009)
Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility i[...]
GP00000391
GDF9
O60383
Physiology
g.41841117A>C c.1279A>C p.S427R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Våge DI; Husdal M; Kent MP ; et al. (2013)
A missense mutation in growth differentiation factor 9 (GDF9) is strongly associated with litter siz[...]
1 Additional References
GP00002186
GDF9
O60383
Physiology
g.41841285G>A c.1111G>A p.V371M
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002187
GDF9
O60383
Physiology
g.41841212C>T c.1184C>T p.S395F
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Souza CJ; McNeilly AS; Benavides MV ; et al. (2014)
Mutation in the protease cleavage site of GDF9 increases ovulation rate and litter size in heterozyg[...]
GP00002188
GDF9
O60383
Physiology
g.41841453C>T c.943C>T p.R315C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GH
Body size (dwarfism)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
McCormack BL; Chase CC; Olson TA ; et al. (2009)
A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the g[...]
GP00002037
GH1
P01241
Morphology
g.48768780C>T c.593C>T p.T198M
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
GH
Bos taurus
cattle - (species)
Published - Accepted by Curator
GIGANTEA
Photoperiod response
Circadian rhythm
Coding,
SNP
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Xie Q; Lou P; Hermand V ; et al. (2015)
Allelic polymorphism of GIGANTEA is responsible for naturally occurring variation in circadian perio[...]
GP00000396
GI
Q9SQI2
Physiology
Physiology
Ser264Ala
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
GIGANTEA
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
GL3.1
Grain size
2 Mutations:
Coding
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Qi P; Lin YS; Song XJ ; et al. (2012)
The novel quantitative trait locus GL3.1 controls rice grain size and yield by regulating Cyclin-T1;[...]
GP00000397
GL3
Q9FN69
Morphology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GL3.1
Oryza sativa
rice - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001239
GL1
P27900
Morphology
S92F
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000401
G6PD
P11413
Physiology
Ser188Phe C>T
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Louicharoen C; Patin E; Paul R ; et al. (2009)
Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians.
GP00000402
G6PD
P11413
Physiology
Ser163Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-6-phosphate dehydrogenase (G6PD)
Pathogen resistance (malaria)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Tishkoff SA; Varkonyi R; Cahinhinan N ; et al. (2001)
Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer m[...]
GP00000403
G6PD
P11413
Physiology
Val68Met G>A at nucleotide position 376 in exon 5 - OMIM code +305900.0002
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-6-phosphate dehydrogenase (G6PD)
Homo sapiens
human - (species)
Published - Accepted by Curator
Glucose-dependent insulinotropic polypeptide
Glycemia
Adipolysis rate
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Chang CL; Cai JJ; Lo C ; et al. (2011)
Adaptive selection of an incretin gene in Eurasian populations.
GP00000404
GIP
P09681
Physiology
Physiology
Ser103Gly
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Glucose-dependent insulinotropic polypeptide
Homo sapiens
human - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; abamectin)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Dermauw W; Ilias A; Riga M ; et al. (2012)
The cys-loop ligand-gated ion channel gene family of Tetranychus urticae: implications for acaricide[...]
GP00002601
GluClalpha
Q94900
Physiology
G326E inTu_GluCl3
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
glutamate-gated chloride channel (GluCl)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; nodulisporic acid)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Kane NS; Hirschberg B; Qian S ; et al. (2000)
Drug-resistant Drosophila indicate glutamate-gated chloride channels are targets for the antiparasit[...]
GP00002602
GluClalpha
Q94900
Physiology
P299S
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glutamate-gated chloride channel (GluCl)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; ivermectin)
Coding,
SNP
Cooperia oncophora
(species) D
Intraspecific
Candidate Gene
Njue AI; Hayashi J; Kinne L ; et al. (2004)
Mutations in the extracellular domains of glutamate-gated chloride channel alpha3 and beta subunits [...]
GP00002603
GluClalpha
Q94900
Physiology
E114G V235A L256F in the GluCla3 ortholog and V60A R101Hin the GluClb ortholog.
Cooperia oncophora
(species)
Cooperia oncophora
(species) D
glutamate-gated chloride channel (GluCl)
Cooperia oncophora
(species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; ivermectin)
Coding,
SNP
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Candidate Gene
Kwon DH; Yoon KS; Clark JM ; et al. (2010)
A point mutation in a glutamate-gated chloride channel confers abamectin resistance in the two-spott[...]
1 Additional References
GP00002604
GluClalpha
Q94900
Physiology
G323D in the highly conserved TM2 region of Tu_GluCl
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
glutamate-gated chloride channel (GluCl)
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
glutamate-gated chloride channel (GluCl)
Xenobiotic resistance (insecticide; abamectin)
Coding,
SNP
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Wang X; Wang R; Yang Y ; et al. (2016)
A point mutation in the glutamate-gated chloride channel of Plutella xylostella is associated with r[...]
GP00002634
GluClalpha
Q94900
Physiology
A309V
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
glutamate-gated chloride channel (GluCl)
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
GmHs1-1 (Glyma02g43700.1)
Seed hardness
Seed coat permeability
Coding,
SNP
Glycine max
soybean - (species) D
Domesticated
Linkage Mapping
Sun L; Miao Z; Cai C ; et al. (2015)
GmHs1-1, encoding a calcineurin-like protein, controls hard-seededness in soybean.
GP00001543
Hs1
I1JIK2
Physiology
Physiology
C>T p.Thr>Met predicted to affect the alpha-helix of the protein
Glycine soja
(species)
Glycine max
soybean - (species) D
GmHs1-1 (Glyma02g43700.1)
Glycine max
soybean - (species)
Published - Accepted by Curator
GPA1
Pheromone response
Cell elongation
Coding,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Yvert G; Brem RB; Whittle J ; et al. (2003)
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors.
1 Additional References
GP00000410
GPA1
P08539
Physiology
Physiology
Ser469Ile
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
GPA1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001672
GPRC6A
Q5T6X5
Physiology
C>T (aa57) located in the first exon resulting in a premature Stop-codon and non-functional protein N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
Gr5a
Taste sensitivity (sugar; trehalose)
Coding,
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Ueno K; Ohta M; Morita H ; et al. (2001)
Trehalose sensitivity in Drosophila correlates with mutations in and expression of the gustatory rec[...]
2 Additional References
GP00001997
Gr5a
Q9W497
Physiology
Nucleotide change: A5681571G - Amino acid change: T218A
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Gr5a
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Green-sensitive opsin (RH2)
Color vision (blue shift)
Coding,
SNP
Thunnus orientalis
Pacific bluefin tuna - (species) D
Intergeneric or Higher
Candidate Gene
Nakamura Y; Mori K; Saitoh K ; et al. (2013)
Evolutionary changes of multiple visual pigment genes in the complete genome of Pacific bluefin tuna[...]
GP00001469
opn1mw1
Q9W6A5
Physiology
p.E122Q (G>C) in four of five genes
Percomorphaceae
(no rank)
Thunnus orientalis
Pacific bluefin tuna - (species) D
Green-sensitive opsin (RH2)
Thunnus orientalis
Pacific bluefin tuna - (species)
Published - Accepted by Curator
Growth Hormone Receptor
Milk yield
Coding,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Viitala S; Szyda J; Blott S ; et al. (2006)
The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...]
1 Additional References
GP00000416
Ghr
P16882
Physiology
Phe279Tyr
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
Growth Hormone Receptor
Bos taurus
cattle - (species)
Published - Accepted by Curator
Growth Hormone Receptor (GHR)
Body size (height)
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Zoledziewska M; Sidore C; Chiang CWK ; et al. (2015)
Height-reducing variants and selection for short stature in Sardinia.
GP00000415
GHR
P10912
Morphology
Arg61* N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Growth Hormone Receptor (GHR)
Homo sapiens
human - (species)
Published - Accepted by Curator
growth hormone receptor (GHR)
Body size (weight)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001475
GHR
Q9TU69
Morphology
G>A in exon 5 p.E191K in extracellular domain
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
growth hormone receptor (GHR)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
growth hormone receptor (GHR)
Body size (weight)
Coding,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001476
GHR
Q9TU69
Morphology
C>T in exon 5 p.P177L in extracellular domain
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
growth hormone receptor (GHR)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
GS3
Grain size
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Fan C; Xing Y; Mao H ; et al. (2006)
GS3, a major QTL for grain length and weight and minor QTL for grain width and thickness in rice, en[...]
1 Additional References
GP00000417
GS3
C6L686
Morphology
C55*;TGC>TGA causing a 178-aa truncation in the C-terminus of the predicted protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GS3
Oryza sativa
rice - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Anopheles funestus
African malaria mosquito - (species)
Intraspecific
Candidate Gene
Riveron JM; Yunta C; Ibrahim SS ; et al. (2014)
A single mutation in the GSTe2 gene allows tracking of metabolically based insecticide resistance in[...]
GP00002455
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species)
GSTe
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Spodoptera litura
(species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002456
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Spodoptera litura
(species)
Spodoptera litura
(species)
GSTe
Spodoptera litura
(species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Spodoptera frugiperda
fall armyworm - (species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002457
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species)
GSTe
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Spodoptera exigua
beet armyworm - (species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002458
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species)
GSTe
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Spodoptera littoralis
African cotton leafworm - (species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002459
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Spodoptera littoralis
African cotton leafworm - (species)
Spodoptera littoralis
African cotton leafworm - (species)
GSTe
Spodoptera littoralis
African cotton leafworm - (species)
Published - Accepted by Curator
GSTe
Xenobiotic resistance (insecticide; DDT)
Coding,
SNP
Anopheles funestus
African malaria mosquito - (species)
Intraspecific
Candidate Gene
Hilliou F; Chertemps T; Maïbèche M ; et al. (2021)
Resistance in the Genus Spodoptera: Key Insect Detoxification Genes.
1 Additional References
GP00002460
GstE2
Q7JYZ9
Physiology
L119F. The resistant allele is more efficient at metabolizing DDT than the susceptible one.
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species)
GSTe
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
SNP
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000426
ABCA2
A0A0S0G7V0
Physiology
Pro53* (161T>A) N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (mean blood corpuscular hemoglobin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001607
HBS1L
Q9Y450
Physiology
T>C at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (mean blood corpuscular hemoglobin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001608
HBS1L
Q9Y450
Physiology
A>G at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (red blood cell count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001609
HBS1L
Q9Y450
Physiology
C>T at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Takahashi Y; Teshima KM; Yokoi S ; et al. (2009)
Variations in Hd1 proteins, Hd3a promoters, and Ehd1 expression levels contribute to diversity of fl[...]
GP00001725
HD1
Q9FDX8
Physiology
C to T – stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd6a
Flowering time
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Takahashi Y; Shomura A; Sasaki T ; et al. (2001)
Hd6, a rice quantitative trait locus involved in photoperiod sensitivity, encodes the alpha subunit [...]
GP00000442
HD6
Q9AR27
Physiology
K91*; AAG>TAG N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Hd6a
Oryza sativa
rice - (species)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
SNP
N
Setaria italica
foxtail millet - (species) D
Domesticated
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001410
CO
Q39057
Physiology
splicing variant at position 787 GT>AT resulting in a splicing shift to position 754 introducing a deletion of 33 bp in the transcript and 11 aa in the protein N
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Heading Date 1 (HD1)
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
2 Mutations:
Coding
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000443
HMA3
P0CW78
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase3 (HMA3)
Metal tolerance
Coding,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ueno D; Yamaji N; Kono I ; et al. (2010)
Gene limiting cadmium accumulation in rice.
GP00000445
HMA3
P0CW78
Physiology
H80R
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
heavy metal atpase3 (HMA3)
Oryza sativa
rice - (species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000450
HMA5
Q9SH30
Physiology
P626L
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
heavy metal atpase5 (HMA5)
Metal tolerance
Coding,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Kobayashi Y; Kuroda K; Kimura K ; et al. (2008)
Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the m[...]
GP00000451
HMA5
Q9SH30
Physiology
N923T
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase5 (HMA5)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000452
hecw-1
G5EEJ0
Behavior
Y322C
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
HECW-1
Pathogen avoidance
Coding,
SNP
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Chang HC; Paek J; Kim DH (2011)
Natural polymorphisms in C. elegans HECW-1 E3 ligase affect pathogen avoidance behaviour.
GP00000453
hecw-1
G5EEJ0
Behavior
Q325P
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
HECW-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
hemoglobin; HBA
Hypoxia response
Coding,
SNP
Lama
(genus)
Interspecific
Candidate Gene
Kleinschmidt T; März J; Jürgens KD ; et al. (1986)
Interaction of allosteric effectors with alpha-globin chains and high altitude respiration of mammal[...]
GP00000454
HBA1
P69905
Physiology
Asp122His
Mammalia
mammals - (class)
Lama
(genus)
hemoglobin; HBA
Lama
(genus)
Published - Accepted by Curator
hemoglobin; HBA and HBB
Hypoxia response
Coding,
SNP
Crocodylus niloticus
Nile crocodile - (species)
Intergeneric or Higher
Candidate Gene
Komiyama NH; Miyazaki G; Tame J ; et al. (1995)
Transplanting a unique allosteric effect from crocodile into human haemoglobin.
GP00000455
HBA1
P69905
Physiology
No more than 12 amino acid substitutions required for providing crocodile-like properties in engineered human Hb - effect of single amino acid changes not tested
Homo sapiens
human - (species)
Crocodylus niloticus
Nile crocodile - (species)
hemoglobin; HBA and HBB
Crocodylus niloticus
Nile crocodile - (species)
Published - Accepted by Curator
hemoglobin; HBA-T1 and T2 paralogues
Hypoxia response
5 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Sabatino SJ; Hoffmann FG ; et al. (2007)
The molecular basis of high-altitude adaptation in deer mice.
2 Additional References
GP00000456
HBA1
P69905
Physiology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species) D
hemoglobin; HBA-T1 and T2 paralogues
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000457
HBA1
P69905
Physiology
Asn9Ser
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
hemoglobin; HBA2
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000458
HBA1
P69905
Physiology
Ala77Thr
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000459
HBAD
P02001
Physiology
Ser130Phe
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBA2
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000460
HBA1
P69905
Physiology
Ala77Thr
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000461
HBAD
P02001
Physiology
Val96Ala
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBA2
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Anser indicus
bar-headed goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
2 Additional References
GP00000462
HBA1
P69905
Physiology
Pro119Ala
Anser anser
domestic goose - (species)
Anser indicus
bar-headed goose - (species) D
hemoglobin; HBA2
Anser indicus
bar-headed goose - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000463
HBA1
P69905
Physiology
Ala5Thr
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBA2
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
Coding,
SNP
Merganetta armata
(species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000464
HBA1
P69905
Physiology
Ala77Thr
Merganetta armata
(species)
Merganetta armata
(species) D
hemoglobin; HBA2
Merganetta armata
(species)
Published - Accepted by Curator
hemoglobin; HBA2
Hypoxia response
2 Mutations:
Coding
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000465
HBAD
P02001
Physiology
2 mutations
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBA2
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Pathogen resistance (Plasmodium; malaria parasite)
Coding,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Jallow M; Teo YY; Small KS ; et al. (2009)
Genome-wide and fine-resolution association analysis of malaria in West Africa.
GP00000466
HBB
P68871
Physiology
Glu6Val
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
hemoglobin; HBB
Homo sapiens
human - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas flavirostris
Yellow-billed teal - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000467
HBB
P68871
Physiology
2 mutations
Anas flavirostris
Yellow-billed teal - (species)
Anas flavirostris
Yellow-billed teal - (species) D
hemoglobin; HBB
Anas flavirostris
Yellow-billed teal - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas georgica
yellow-billed pintail - (species) D
Intraspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
1 Additional References
GP00000468
HBB
P68871
Physiology
2 mutations
Anas georgica
yellow-billed pintail - (species)
Anas georgica
yellow-billed pintail - (species) D
hemoglobin; HBB
Anas georgica
yellow-billed pintail - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000469
HBB
P68871
Physiology
2 mutations
Anas
ducks - (genus)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
2 Mutations:
Coding
SNP
Lophonetta specularioides
crested duck - (species) D
Interspecific
Candidate Gene
McCracken KG; Barger CP; Bulgarella M ; et al. (2009)
Parallel evolution in the major haemoglobin genes of eight species of Andean waterfowl.
GP00000470
HBB
P68871
Physiology
2 mutations
Anatidae
waterfowl - (family)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Anas puna
(species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000471
HBB
P68871
Physiology
Asp94Glu
Anas versicolor
(species)
Anas puna
(species) D
hemoglobin; HBB
Anas puna
(species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Lophonetta specularioides
crested duck - (species) D
Intraspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000472
HBB
P68871
Physiology
Asp94Glu
Lophonetta specularioides
crested duck - (species)
Lophonetta specularioides
crested duck - (species) D
hemoglobin; HBB
Lophonetta specularioides
crested duck - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Jessen TH; Weber RE; Fermi G ; et al. (1991)
Adaptation of bird hemoglobins to high altitudes: demonstration of molecular mechanism by protein en[...]
2 Additional References
GP00000473
HBB
P68871
Physiology
Leu55Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
Coding,
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000474
HBB
P68871
Physiology
Ala86Ser
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB
Hypoxia response
3 Mutations:
Coding
SNP
Chloephaga melanoptera
Andean goose - (species) D
Interspecific
Candidate Gene
Natarajan C; Projecto-Garcia J; Moriyama H ; et al. (2015)
Convergent Evolution of Hemoglobin Function in High-Altitude Andean Waterfowl Involves Limited Paral[...]
GP00000475
HBA1
P69905
Physiology
3 mutations
Neochen jubata
Orinoco goose - (species)
Chloephaga melanoptera
Andean goose - (species) D
hemoglobin; HBB
Chloephaga melanoptera
Andean goose - (species)
Published - Accepted by Curator
hemoglobin; HBB-T1 and T2 paralogues
Hypoxia response
4 Mutations:
Coding
SNP
Peromyscus maniculatus
North American deer mouse - (species) D
Intraspecific
Candidate Gene
Storz JF; Runck AM; Sabatino SJ ; et al. (2009)
Evolutionary and functional insights into the mechanism underlying high-altitude adaptation of deer [...]
1 Additional References
GP00000476
HBB
P68871
Physiology
4 mutations
Peromyscus maniculatus
North American deer mouse - (species)