ABCA1
Coloration (feathers)
Cholesterol metabolism
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Attie AD; Hamon Y; Brooks-Wilson AR ; et al. (2002)
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of t[...]
GP00001682
Abca1
P41233
Morphology; Physiology
Morphology; Physiology
amino acid substitution at a residue that is conserved in the ABCA1 gene between human; mouse; chicken; and Takifugu rubripes. Generation of a mouse ABCA1 protein with the mutation disrupts protein function. N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
ABCA1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Indel
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000002
ABCA2
A0A0S0G7V0
Physiology
65bp indel in exon16 inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000003
ABCA2
A0A0S0G7V0
Physiology
5bp deletion inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000004
ABCA2
A0A0S0G7V0
Physiology
5bp (GAATA) nucleotide duplication inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Trichoplusia ni
cabbage looper - (species) D
Intraspecific
Linkage Mapping
Yang X; Chen W; Song X ; et al. (2019)
Mutation of ABC transporter ABCA2 confers resistance to Bt toxin Cry2Ab in Trichoplusia ni.
GP00002054
ABCA2
A0A0S0G7V0
Physiology
insertion of a transposon Tntransib (2581 bp) in ABCA2 which changes splicing sites in the transcript and lead to an indel in the coding region: change of 1551VETLAHALGFLRHLDKR1567 into 1551AHWGK- LYGSNTQN1563 N
Trichoplusia ni
cabbage looper - (species)
Trichoplusia ni
cabbage looper - (species) D
ABCA2
Trichoplusia ni
cabbage looper - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Deletion
N
Helicoverpa punctigera
(species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00002056
ABCA2
A0A0S0G7V0
Physiology
14bp deletion resulting in missense mutations. N
Helicoverpa punctigera
(species)
Helicoverpa punctigera
(species) D
ABCA2
Helicoverpa punctigera
(species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Candidate Gene
Mathew LG; Ponnuraj J; Mallappa B ; et al. (2018)
ABC transporter mis-splicing associated with resistance to Bt toxin Cry2Ab in laboratory- and field-[...]
GP00002057
ABCA2
A0A0S0G7V0
Physiology
loss of exon 6 caused by alternative splicing N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
ABCA2
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab)
Coding,
Insertion
N
Trichoplusia ni
cabbage looper - (species) D
Intraspecific
Linkage Mapping
Yang X; Chen W; Song X ; et al. (2019)
Mutation of ABC transporter ABCA2 confers resistance to Bt toxin Cry2Ab in Trichoplusia ni.
GP00002467
ABCA2
Q9BZC7
Physiology
insertion of a 2581-bp transposon Tntransib in ABCA2. This insertion disrupts splicing sites and leads to indels in the protein sequence. CRISPR ABCA2 mutants are highly resistant to Cry2Ab. N
Trichoplusia ni
cabbage looper - (species)
Trichoplusia ni
cabbage looper - (species) D
ABCA2
Trichoplusia ni
cabbage looper - (species)
Published - Accepted by Curator
ABCB1
Plant size (dwarfism)
Coding,
Insertion
N
Sorghum bicolor
sorghum - (species)
Domesticated
Candidate Gene
Multani DS; Briggs SP; Chamberlin MA ; et al. (2003)
Loss of an MDR transporter in compact stalks of maize br2 and sorghum dw3 mutants.
GP00000007
ABCB1
Q9ZR72
Morphology
882bp direct duplication in exon 5 of the dw3 allele driving loss-of-function N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
ABCB1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
ABCB1
Xenobiotic resistance (insecticide; Bt Cry3Aa toxin)
Coding,
Deletion
N
Chrysomela tremula
(species) D
Intraspecific
Candidate Gene
Pauchet Y; Bretschneider A; Augustin S ; et al. (2016)
A P-Glycoprotein Is Linked to Resistance to the Bacillus thuringiensis Cry3Aa Toxin in a Leaf Beetle[...]
GP00002466
ABCB1
P08183
Physiology
a four-base-pair deletion at position 1561 introducing a frame shift with a premature stop codon leading to loss of the TpM1 transporter motif as well as the complete second transmembrane domain N
Chrysomela tremula
(species)
Chrysomela tremula
(species) D
ABCB1
Chrysomela tremula
(species)
Published - Accepted by Curator
Abcb4
Biliary Phospholipid Level (low)
Coding,
Unknown
N
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000008
Abcb4
P21440
Physiology
pseudogenization N
Mammalia
mammals - (class)
Cavia porcellus
domestic guinea pig - (species)
Abcb4
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
Abcb4
Biliary Phospholipid Level (low)
Coding,
Unknown
N
Equus caballus
horse - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000009
Abcb4
P21440
Physiology
pseudogenization N
Mammalia
mammals - (class)
Equus caballus
horse - (species)
Abcb4
Equus caballus
horse - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Gahan LJ; Pauchet Y; Vogel H ; et al. (2010)
An ABC transporter mutation is correlated with insect resistance to Bacillus thuringiensis Cry1Ac to[...]
GP00000012
ABCC2
A0A0E3ZDK3
Physiology
22bp deletion N
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
ABCC2
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Linkage Mapping
Baxter SW; Badenes-Pérez FR; Morrison A ; et al. (2011)
Parallel evolution of Bacillus thuringiensis toxin resistance in lepidoptera.
GP00000013
ABCC2
A0A0E3ZDK3
Physiology
30bp deletion N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
ABCC2
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt toxins)
Coding,
Deletion
N
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Linkage Mapping
Park Y; González-Martínez RM; Navarro-Cerrillo G ; et al. (2014)
ABCC transporters mediate insect resistance to multiple Bt toxins revealed by bulk segregant analysi[...]
GP00001439
Physiology
About 500 nt genomic deletion over 2 exons involving 246 nt coding 82aa N
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
ABCC2
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt toxins)
Coding,
Complex Change
N
Spodoptera frugiperda
fall armyworm - (species) D
Intraspecific
Candidate Gene
Banerjee R; Hasler J; Meagher R ; et al. (2017)
Mechanism and DNA-based detection of field-evolved resistance to transgenic Bt corn in fall armyworm[...]
1 Additional References
GP00002461
MRP1
H8YF43
Physiology
A nine-base deletion (position 39–47) and a two-base insertion (GC at position 2218) lead to a frameshift and the occurrence of a premature stop codon. The truncated protein is 746 amino acids whereas the ABCC2 of the susceptible strain encodes a protein of 1349 amino acids. N
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species) D
ABCC2
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide; Bt toxins)
Coding,
Complex Change
N
Spodoptera frugiperda
fall armyworm - (species) D
Intraspecific
Candidate Gene
Boaventura D; Ulrich J; Lueke B ; et al. (2020)
Molecular characterization of Cry1F resistance in fall armyworm, Spodoptera frugiperda from Brazil.
GP00002462
MRP1
H8YF43
Physiology
two mutations in the extracellular loop 4 (ECL4) of ABCC2: a deletion of two amino acids (GY) at positions 788 and 789 and the change of a proline to either lysine or arginine at position 799. Expression of mutated ABCC2 in insect cells confirmed the role of these mutations in toxin binding. N
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species) D
ABCC2
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Yamamoto F; Hakomori S (1990)
Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...]
1 Additional References
GP00000019
ABO
P16442
Physiology
1bp deletion (258G) resulting in frameshift N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005)
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
1 Additional References
GP00000021
ABO
P16442
Physiology
1bp insertion resulting in premature stop codon N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
SNP
N
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005)
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
1 Additional References
GP00000022
ABO
P16442
Physiology
1bp change resulting in stop codon N
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
Insertion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Cavanagh JA; Tammen I; Windsor PA ; et al. (2007)
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.
GP00002140
ACAN
P16112
Morphology
2266_2267insGGCA mutation introduces a frameshift and a premature termination codon into exon 11; the frameshift occurs at amino acid position 756 ; the termination codon occurs at position 914 compared to the normal aggrecan product of 2327 amino acids N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
aggrecan
Bos taurus
cattle - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
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,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002142
ACAN
P16112
Morphology
g.95257458_95257500del ; p.Phe2017-Asp2023del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Eberth JE; Graves KT; MacLeod JN ; et al. (2018)
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
GP00002145
ACAN
P16112
Morphology
g.95291270del ; p.Lys82fs N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
aggrecan
Equus caballus
horse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Gene Loss,
Deletion
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.
GP00000055
Asip
Q03288
Morphology
125kb deletion including 5' CDS of Agouti N
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
Agouti
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Coding,
SNP
N
Peromyscus polionotus
oldfield mouse - (species)
Intraspecific
Candidate Gene
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00000056
Asip
Q03288
Morphology
Premature stop codon at residue 65 N
Peromyscus polionotus
oldfield mouse - (species)
Peromyscus polionotus
oldfield mouse - (species)
Agouti
Peromyscus polionotus
oldfield mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Intraspecific
Linkage Mapping
Rieder S; Taourit S; Mariat D ; et al. (2001)
Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their associati[...]
1 Additional References
GP00000062
Asip
Q03288
Morphology
11bp deletion in exon 2: g.2174_2184del11 c.191_201del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Agouti
Equus caballus
horse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Eizirik E; Yuhki N; Johnson WE ; et al. (2003)
Molecular genetics and evolution of melanism in the cat family.
GP00000063
Asip
Q03288
Morphology
Deletion of nt 123-124 N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Agouti
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Panthera pardus
leopard - (species) D
Intraspecific
Candidate Gene
Schneider A; David VA; Johnson WE ; et al. (2012)
How the leopard hides its spots: ASIP mutations and melanism in wild cats.
GP00000065
Asip
Q03288
Morphology
nonsense mutation located in exon 4 (C333A) predicted to introduce a stop codon at amino acid position 111 N
Panthera pardus
leopard - (species)
Panthera pardus
leopard - (species) D
Agouti
Panthera pardus
leopard - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
Deletion
N
Vulpes vulpes
red fox - (species) D
Domesticated
Candidate Gene
Våge DI; Lu D; Klungland H ; et al. (1997)
A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes.
GP00000067
Asip
Q03288
Morphology
166 bp deletion in exon 1 N
Vulpes vulpes
red fox - (species)
Vulpes vulpes
red fox - (species) D
Agouti
Vulpes vulpes
red fox - (species)
Published - Accepted by Curator
Agouti
Coloration (feathers)
Coding,
Deletion
N
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Hiragaki T; Inoue-Murayama M; Miwa M ; et al. (2008)
Recessive black is allelic to the yellow plumage locus in Japanese quail and associated with a frame[...]
GP00000068
Asip
Q03288
Morphology
8bp frameshift deletion N
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Agouti
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Leopardus colocolo
Colocolo - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001731
Asip
Q03288
Morphology
Arg to Cys substitution in the C-terminal region of ASIP (p.R120C) lies in the critical RFF loop (e.g. a triplet motif made of one arginine and two phenylalanine residues) required for binding to the MC1R N
Leopardus colocolo
Colocolo - (species)
Leopardus colocolo
Colocolo - (species) D
Agouti
Leopardus colocolo
Colocolo - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Coding,
SNP
N
Leopardus guigna
Kodkod - (species) D
Intraspecific
Candidate Gene
Schneider A; Henegar C; Day K ; et al. (2015)
Recurrent evolution of melanism in South American felids.
GP00001732
Asip
Q03288
Morphology
Cys to Tyr substitution in ASIP (p.C126Y) which affects the key disulfide bond that stabilizes the RFF loop N
Leopardus guigna
Kodkod - (species)
Leopardus guigna
Kodkod - (species) D
Agouti
Leopardus guigna
Kodkod - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Gene Loss,
Deletion
N
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Candidate Gene
Kingsley EP; Manceau M; Wiley CD ; et al. (2009)
Melanism in peromyscus is caused by independent mutations in agouti.
GP00001975
Asip
Q03288
Morphology
125kb deletion ; recessive mutation 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
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 (ASIP)
Coloration (coat)
Lifespan
2 Mutations:
Coding
N
Ovis aries
sheep - (species) D
Intraspecific
Linkage Mapping
Gratten J; Pilkington JG; Brown EA ; et al. (2010)
The genetic basis of recessive self-colour pattern in a wild sheep population.
1 Additional References
GP00001356
Asip
Q03288
Morphology
Physiology
2 mutations
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
Insertion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Forestier L; Allain D ; et al. (2010)
Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic an[...]
1 Additional References
GP00001968
Asip
Q03288
Morphology
an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Agouti (ASIP)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
Deletion
N
D
Intraspecific
Candidate Gene
Miller SM; Guthrie AJ; Harper CK (2016)
Single base-pair deletion in ASIP exon 3 associated with recessive black phenotype in impala (Aepyce[...]
GP00001977
Asip
Q03288
Morphology
recessive c.174delA was found in all black phenotype sequences ; premature stop codon (239–241 bp) N
D
Agouti (ASIP)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Coding,
Deletion
N
Camelus dromedarius
Arabian camel - (species) D
Domesticated
Candidate Gene
Almathen F; Elbir H; Bahbahani H ; et al. (2018)
Polymorphisms in MC1R and ASIP Genes are Associated with Coat Color Variation in the Arabian Camel.
1 Additional References
GP00001978
Asip
Q03288
Morphology
1-bp deletion at position 23 resulting in frameshift N
Camelus dromedarius
Arabian camel - (species)
Camelus dromedarius
Arabian camel - (species) D
Agouti (ASIP)
Camelus dromedarius
Arabian camel - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat; dorso-ventral)
Coding,
Insertion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Letko A; Ammann B; Jagannathan V ; et al. (2020)
A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform i[...]
GP00002373
Asip
Q03288
Morphology
"The structural variant represented an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del; Fig. 2). In rabbit, there are currently two ASIP transcript isoforms annotated (NCBI annotation release 102). The deletion removes the entire first 5′-untranslated exon of one of these transcripts (NM_001122939.1). (...) he deletion removed the transcription start site and the first untranslated exon of the presumably hair cycle-specific transcript isoform, suggesting that this is the most likely causative variant for the black and tan phenotype." N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Agouti (ASIP)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
AHR
Xenobiotic resistance (TCDD)
Coding,
SNP
N
Rattus norvegicus
Norway rat - (species) D
Intraspecific
Linkage Mapping
Tuomisto JT; Viluksela M; Pohjanvirta R ; et al. (1999)
The AH receptor and a novel gene determine acute toxic responses to TCDD: segregation of the resista[...]
2 Additional References
GP00001813
Ahr
P30561
Physiology
point mutation in the exon/intron 10 boundary in AHR genomic structure that leads to use of 3 alternative cryptic splice sites; potentially creating 3 alternative transcripts and 2 protein products. At the protein level the mutation leads to a total loss of either 43 or 38 amino acids (with altered sequence for the last seven amino acids in the latter case) toward the carboxyl-terminal end in the trans-activation domain of the AhR. H/W rats also harbor a point mutation in exon 10 that will cause a Val-to-Ala substitution in codon 497, but this occurs in a variable region of the AhR N
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species) D
AHR
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001806
Ahr
P30561
Physiology
70 kb deletion that removes parts of the two genes AHR1a and AHR2a N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001807
Ahr
P30561
Physiology
45 kb deletion that removes parts of the two genes AHR1a and AHR2a (from exon 5 of AHR2a to exon 4 of AHR1a) N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
1 Additional References
GP00001808
Ahr
P30561
Physiology
83 kb deletion that removes parts of the two genes AHR1a and AHR2a (from exon 11 of AHR2a to exon 6 of AHR1a) N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AHR2
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution; polychlorinated biphenyls; PCBs)
Coding,
Deletion
N
Microgadus tomcod
Atlantic tomcod - (species) D
Intraspecific
Candidate Gene
Wirgin I; Roy NK; Loftus M ; et al. (2011)
Mechanistic basis of resistance to PCBs in Atlantic tomcod from the Hudson River.
GP00001809
Ahr
P30561
Physiology
6-bp deletion - (nts 1314 to 1319 in exon 10; TTCCTC) that resulted in a two-amino acid (Phe-Leu) deletion located 43 amino acids downstream of the amino terminal of the AHR2 ligand binding domain N
Microgadus tomcod
Atlantic tomcod - (species)
Microgadus tomcod
Atlantic tomcod - (species) D
AHR2
Microgadus tomcod
Atlantic tomcod - (species)
Published - Accepted by Curator
AHR2
Xenobiotic resistance (pollution)
Gene Loss,
Deletion
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002669
Ahr
P30561
Physiology
70 kb deletion that removes parts of the two genes AHR1a and AHR2a N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
AHR2
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
AIP
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus heteroclitus
mummichog - (species) D
Intraspecific
Association Mapping
Reid NM; Proestou DA; Clark BW ; et al. (2016)
The genomic landscape of rapid repeated evolutionary adaptation to toxic pollution in wild fish.
GP00001812
Aip
O08915
Physiology
exact mutation(s) unknown - very good candidate gene according to association mapping and knowledge about the physiology N
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species) D
AIP
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
AIP
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002670
Aip
O08915
Physiology
exact mutation(s) unknown - very good candidate gene according to Fst and knowledge about the physiology N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
AIP
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Insertion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Freeth AL; Gibson JB; Wilks AV (1990)
Aberrant splicing of a naturally occurring alcohol dehydrogenase null activity allele in Drosophila [...]
1 Additional References
GP00001990
Adh
P00334
Physiology
eight extra nucleotides (in two groups of four) in the second intron commencing six bases 3' from the 5' splice site. A stop codon was also found in exon 2. S1 nuclease protection experiments have shown that the insertions in intron 2 disrupt the correct splicing of intron 2. The null allele produces a transcript approximately 100 bases longer than the normal mature adult transcript, and the amount of the null allele transcript is only about 10% of the normal level. N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Gibson JB; Wilks AV; Agrotis A (1992)
Molecular relationships between alcohol dehydrogenase null-activity alleles from natural populations[...]
GP00001991
Adh
P00334
Physiology
438-bp deletion which removes most of exon 2. Lys to Thr substitution: ACG at the sites 1489--1491 N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Allantoin permease DAL4
Nitrogen use (growth rate on allantoin)
Coding,
Indel
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Ibstedt S; Stenberg S; Bagés S ; et al. (2015)
Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.
GP00001503
DAL4
Q04895
Physiology
c.1201delA a single nucleotide frameshifting insertion (deletion?) N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Allantoin permease DAL4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ameloblastin (AMBN)
Tooth absence (no enamel production)
Gene Loss,
Deletion
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001934
AMBN
Q9NP70
Physiology
synteny of the corresponding region - the gene has been likely deleted from the chicken genome as a consequence of intrachromosomal rearrangements which have probably occurred in the lineage that led to the last common ancestor of modern birds N
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
ameloblastin (AMBN)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
ameloblastin (AMBN)
Tooth absence (no enamel production)
Coding,
Unknown
N
Mysticeti
baleen whales - (suborder) D
Intergeneric or Higher
Candidate Gene
Deméré TA; McGowen MR; Berta A ; et al. (2008)
Morphological and molecular evidence for a stepwise evolutionary transition from teeth to baleen in [...]
1 Additional References
GP00001938
AMBN
Q9NP70
Physiology
multiple frameshift mutations N
Cetacea
whales - (order)
Mysticeti
baleen whales - (suborder) D
ameloblastin (AMBN)
Mysticeti
baleen whales - (suborder)
Published - Accepted by Curator
amelogenin (AMEL)
Tooth absence (no enamel production)
3 Mutations:
Coding
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001933
Amelx
P63277
Physiology
3 mutations
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
amelogenin (AMEL)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
amelogenin (AMEL)
Tooth absence (no enamel production)
Coding,
Unknown
N
Mysticeti
baleen whales - (suborder) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Cheng J ; et al. (2011)
Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]
GP00001937
Amelx
P63277
Physiology
J. Gatesy 2010 unpublished data cited in the main reference N
Cetacea
whales - (order)
Mysticeti
baleen whales - (suborder) D
amelogenin (AMEL)
Mysticeti
baleen whales - (suborder)
Published - Accepted by Curator
Aminopeptidase N (APN)
Xenobiotic resistance (insecticide; Bt Cry2Ac toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Experimental Evolution
Candidate Gene
Yang Y; Zhu YC; Ottea J ; et al. (2010)
Molecular characterization and RNA interference of three midgut aminopeptidase N isozymes from Bacil[...]
GP00002463
apn
Q9VFX3
Physiology
deletion removing 22 amino acids. The mutant form failed to bind Cry1Ac unlike the full-length susceptible form. N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Aminopeptidase N (APN)
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Deletion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000089
AN2
A4GRU8
Morphology
1bp deletion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000090
AN2
A4GRU8
Morphology
4bp insertion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000091
AN2
A4GRU8
Morphology
W196* N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Deletion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000092
AN2
A4GRU8
Morphology
1bp deletion; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Interspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000093
AN2
A4GRU8
Morphology
1 aa substitution; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
SNP
N
Petunia axillaris
(species)
Interspecific
Candidate Gene
Hoballah ME; Gübitz T; Stuurman J ; et al. (2007)
Single gene-mediated shift in pollinator attraction in Petunia.
GP00000094
AN2
A4GRU8
Morphology
1 aa substitution; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species)
anthocyanin2 (an2)
Petunia axillaris
(species)
Published - Accepted by Curator
AOP2
Glucosinolate content
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kliebenstein DJ; Lambrix VM; Reichelt M ; et al. (2001)
Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dio[...]
2 Additional References
GP00000095
AOP2
Q945B5
Physiology
5bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AOP2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
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 (AQY1)
Growth rate (environment-dependent)
2 Mutations:
Coding
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001872
AQP1
P29972
Physiology
2 mutations
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY1)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001873
AQP1
P29972
Physiology
aquaporin yeast 1 gene on chromosome 12 - A881 deletion renders AQY1 inactive - size of the deletion not indicated in the paper - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY1)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001874
AQP1
P29972
Physiology
aquaporin yeast 1 gene on chromosome 12 - 955-bp deletion that removes the first 106 bp of AQY1 and its upstream region - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY1)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001875
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - 11-bp deletion that creates a stop codon in the middle of the AQY2 gene - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
1 Additional References
GP00001876
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - deletion of nucleotide G at position 25 (G25) which creates a frameshift the AQY2 gene - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
Aquaporin (AQY2)
Growth rate (environment-dependent)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Candidate Gene
Will JL; Kim HS; Clarke J ; et al. (2010)
Incipient balancing selection through adaptive loss of aquaporins in natural Saccharomyces cerevisia[...]
GP00001877
AQP1
P29972
Physiology
aquaporin yeast 2 gene on chromosome 11 - G528 deletion which creates a frameshift the AQY2 gene - tested in assays - GenBank accession numbers for AQY1 and AQY2: GQ848552-74 and GQ870433-54 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Aquaporin (AQY2)
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
arcp-1
CO2 avoidance
Aggregation behavior
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Beets I; Zhang G; Fenk LA ; et al. (2019)
Natural Variation in a Dendritic Scaffold Protein Remodels Experience-Dependent Plasticity by Alteri[...]
GP00002067
CELE_F34D10.6
C6KRH4
Behavior
Behavior
8 bp deletion (mfP22) in the open reading frame N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
arcp-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
ARHGAP11B
Neocortex development (basal progenitor amplification)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Florio M; Namba T; Pääbo S ; et al. (2016)
A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification.
GP00001442
ARHGAP11B
Q3KRB8
Morphology
c.661C>G new splice site mutation removing 55nt from exon 5 truncating a GAP domain N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ARHGAP11B
Homo sapiens
human - (species)
Published - Accepted by Curator
ARNT-1c
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002672
P27540NULL
Physiology
exact mutation(s) unknown - very good candidate gene according to high differentiation region on chromosome 8 and knowledge about the physiology. ARNT1c is a nuclear dimerization partner of aryl hydrocarbon receptor (AHR) required for activation of the xenobiotic response pathway. N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
ARNT-1c
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
ARNT-L2a
Xenobiotic resistance (pollution)
Unknown,
Unknown
N
Fundulus grandis
Gulf killifish - (species) D
Intraspecific
Association Mapping
Oziolor EM; Reid NM; Yair S ; et al. (2019)
Adaptive introgression enables evolutionary rescue from extreme environmental pollution.
GP00002671
P27540NULL
Physiology
exact mutation(s) unknown - very good candidate gene according to high differentiation region on chromosome 10 and knowledge about the physiology. ARNT-L2a is a nuclear dimerization partner of aryl hydrocarbon receptor (AHR) required for activation of the xenobiotic response pathway. N
Fundulus grandis
Gulf killifish - (species)
Fundulus grandis
Gulf killifish - (species) D
ARNT-L2a
Fundulus grandis
Gulf killifish - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Gene Loss,
Complex Change
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[...]
GP00000106
GA20OX1
Q39110
Morphology
Whole gene deletion 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,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000107
GA20OX1
Q39110
Morphology
-2bp at +297 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000108
GA20OX1
Q39110
Morphology
-1bp "G" at +324 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000109
GA20OX1
Q39110
Morphology
-5bp "G" at +545 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000110
GA20OX1
Q39110
Morphology
-10bp "G" at +784 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000111
GA20OX1
Q39110
Morphology
-29bp at +426 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000112
GA20OX1
Q39110
Morphology
-444bp at +985 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000113
GA20OX1
Q39110
Morphology
+1bp "G" at +256 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000114
GA20OX1
Q39110
Morphology
+7bp "G" at +961 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000115
GA20OX1
Q39110
Morphology
+1bp at +1270 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000116
GA20OX1
Q39110
Morphology
Transposon insertion at +1355 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000117
GA20OX1
Q39110
Morphology
W46* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
1 Additional References
GP00000118
GA20OX1
Q39110
Morphology
W271* -G816A according to Fig.3 of Xu et al. 1995 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000119
GA20OX1
Q39110
Morphology
E312* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Luo Y; Dong X; Yu T ; et al. (2015)
A Single Nucleotide Deletion in Gibberellin20-oxidase1 Causes Alpine Dwarfism in Arabidopsis.
GP00001243
GA20OX1
Q39110
Morphology
-1bp at position 184 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ATP4A
Digestion (absence of stomach)
Gene Loss,
Deletion
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.
GP00001908
ATP4A
P20648
Physiology
Absence of the gene in the genome sequence N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
ATP4A
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
ATP4A
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001920
ATP4A
P20648
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Oreochromis niloticus
Nile tilapia - (species)
Danio rerio
zebrafish - (species) D
ATP4A
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
ATP4A
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001922
ATP4A
P20648
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
ATP4A
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
ATP4A
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001928
ATP4A
P20648
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
ATP4A
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (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
ATP4B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Callorhinchus milii
elephant shark - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001916
ATP4B
P51164
Physiology
Absence of the gene in the genome sequence N
Scyliorhinus canicula
smaller spotted catshark - (species)
Callorhinchus milii
elephant shark - (species) D
ATP4B
Callorhinchus milii
elephant shark - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001921
ATP4B
P51164
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Oreochromis niloticus
Nile tilapia - (species)
Danio rerio
zebrafish - (species) D
ATP4B
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001923
ATP4B
P51164
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
ATP4B
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
ATP4B
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001929
ATP4B
P51164
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
ATP4B
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
B2
Coloration (bulb)
Cis-regulatory,
Insertion
N
Allium cepa
onion - (species) D
Domesticated
Linkage Mapping
Jo C; Kim S (2019)
Transposition of a non-autonomous DNA transposon in the gene coding for a bHLH transcription factor [...]
GP00002058
Morphology
577-bp insertion of a transposable element named AcWHITE in the 5′ upstream region of the white allele of B2. A 8-bp target site duplication (GTTATA AC) and a 7-bp terminal inverted repeat (CAAGGTT) were identified at both ends of this insertion - no SNP detected in the coding region N
Allium cepa
onion - (species)
Allium cepa
onion - (species) D
B2
Allium cepa
onion - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Bradbury LM; Fitzgerald TL; Henry RJ ; et al. (2005)
The gene for fragrance in rice.
1 Additional References
GP00000134
BADH2
Q84LK3
Physiology
8bp deletion resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Shi Weiwei; Yang Yi; Chen Saihua ; et al. (2008
)
Discovery of a new fragrance allele and the development of functional markers for the breeding of fr[...]
1 Additional References
GP00001772
BADH2
Q84LK3
Physiology
7-bp deletion in exon 2 resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001773
BADH2
Q84LK3
Physiology
2-bp deletion in exon 1 resulting in premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001774
BADH2
Q84LK3
Physiology
insertion of 1 bp (T) in exon 10 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001775
BADH2
Q84LK3
Physiology
G>T substitution in exon 10 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001776
BADH2
Q84LK3
Physiology
G>T substitution in exon 14 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001777
BADH2
Q84LK3
Physiology
C>T substitution in exon 13 - need to check the sequence to check if this mutation is nonsense or nonsynonymous N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001778
BADH2
Q84LK3
Physiology
1-bp deletion in exon 10 - causes a frameshift N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001779
BADH2
Q84LK3
Physiology
1-bp insertion (G) in exon 14 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001780
BADH2
Q84LK3
Physiology
3-bp insertion (TAT) in exon 13 - causes a frameshift N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BBS9 (+ BMPER)
Growth rate
Coding,
Deletion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Association Mapping
Derks MFL; Lopes MS; Bosse M ; et al. (2018)
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes[...]
GP00002341
Bbs9
Q811G0
Physiology
212kb deletion resulting in truncated BBS9 protein and recessive loss of neighbor gene expression BMPER N
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
BBS9 (+ BMPER)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow serum)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Berry SD; Davis SR; Beattie EM ; et al. (2009)
Mutation in bovine beta-carotene oxygenase 2 affects milk color.
1 Additional References
GP00000138
BCO2
Q9BYV7
Physiology
c.306G>A ; p.W102* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
BCO2 = beta-carotene oxygenase 2
Bos taurus
cattle - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow fat)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Våge DI; Boman IA (2010)
A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumula[...]
1 Additional References
GP00000140
BCO2
Q9BYV7
Physiology
g.21947481C>T ; c.196C>T ; p.Q66* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BCO2 = beta-carotene oxygenase 2
Ovis aries
sheep - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (bill, legs)
Coding,
SNP
N
Serinus canaria
common canary - (species) D
Domesticated
Association Mapping
Gazda MA; Toomey MB; Araújo PM ; et al. (2020)
GENETIC BASIS OF DE NOVO APPEARANCE OF CAROTENOID ORNAMENTATION IN BARE-PARTS OF CANARIES.
GP00002039
BCO2
Q9BYV7
Morphology
point mutation at nucleotide position 837,806 that is predicted to be a nonsynonymous mutation in the exon 9 of the BCO2 gene. This variant results in the substitution of a histidine for an arginine at residue 413 of the protein (R413H) . In silico analysis suggests that the R413H could cause structural distortion of the protein and lead to a possible loss of activity. In vitro assays with the urucum BCO2 variant show that the enzyme activity is lost. N
Serinus canaria
common canary - (species)
Serinus canaria
common canary - (species) D
BCO2 = beta-carotene oxygenase 2
Serinus canaria
common canary - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow fat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Strychalski J; Brym P; Czarnik U ; et al. (2015)
A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits.
GP00002152
BCO2
Q9BYV7
Physiology
AAT-deletion mutation at Asp codon 248 of the BCO2 gene located at the beginning of exon 6 which results in the removal of an Asp N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
BCO2 = beta-carotene oxygenase 2
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001263
BGLU6
Q682B4
Physiology
T-> A of a splice site at position 168 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001264
BGLU6
Q682B4
Physiology
1-bp deletion of a splice site at position 395 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001265
BGLU6
Q682B4
Physiology
GAG to stop codon TAG at position 913 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001266
BGLU6
Q682B4
Physiology
A deletion of one nucleotide in the seventh exon (BGLU6 CDS position 678) results in a premature stop codon in the accessions Bor-4, Se-0, Uod-1, and Zdr-1. premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Beta-glucosidase6 (BGLU6)
Resistance to UV irradiation (flavonol glycosylation)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ishihara H; Tohge T; Viehöver P ; et al. (2016)
Natural variation in flavonol accumulation in Arabidopsis is determined by the flavonol glucosyltran[...]
1 Additional References
GP00001267
BGLU6
Q682B4
Physiology
GAG to stop codon TAG at position 1138 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Beta-glucosidase6 (BGLU6)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001830
TUB2
P02557
Physiology
A185P - missense_variant_c.553G>C_3539974 – A185P N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001832
TUB2
P02557
Physiology
stop_gained_HIGH_c.1267C>T_3538394 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001833
TUB2
P02557
Physiology
Trans_3538426_3538832 – insertion of a transposable element = a cut and paste DNA transposon Tc5B - which is part of the TcMar-Tc4 transposon superfamily– 406bp of the reference sequence seem to be disrupted- Steffen Hahnel comment : Since we didn't re-amplify the insertion by PCR; we don't know its exact location; sequence and size. Its identification is only based on the illumina reads of genome sequencing of JU3125. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001834
TUB2
P02557
Physiology
missense_variant_MODERATE_c.1210G>A_3538451 – D404N N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001835
TUB2
P02557
Physiology
Del_3539006_3539808 – 802bp deletion of coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001836
TUB2
P02557
Physiology
stop_gained_HIGH_c.1135A>T_3539335 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001837
TUB2
P02557
Physiology
stop_gained_HIGH_c.1112C>A_3539358 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001838
TUB2
P02557
Physiology
Del_3539375_3539378 – 3bp deletion in coding exon 4 predicted to cause a frameshift in the ben-1 open reading frame N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001839
TUB2
P02557
Physiology
Del_3539470_3539471 – 1bp deletion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001840
TUB2
P02557
Physiology
Del_3539507_3539514 – 7bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001841
TUB2
P02557
Physiology
Del_3539559_3539745 – 186 bp deletion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001842
TUB2
P02557
Physiology
Ins_3539575_3539576 – Steffen Hahnel comment: 1 bp insertion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001843
TUB2
P02557
Physiology
missense_variant_MODERATE_c.771G>A_3539699 – M257I N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001844
TUB2
P02557
Physiology
Del_3539746_3539908 – 162 bp deletion in exon3-4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001845
TUB2
P02557
Physiology
stop_gained_HIGH_c.549C>A_3539978 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001846
TUB2
P02557
Physiology
missense_variant_MODERATE_c.434C>T_3540145 – S145F N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001847
TUB2
P02557
Physiology
missense_variant_MODERATE_c.392A>T_3540187 – comment from Steffen Hahnel: The amino acid change is Q131L. This strain was excluded from the original screen because it was slow growing. We re-phenotyped it later (see Sup Fig. 9) N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001848
TUB2
P02557
Physiology
Del_3540300_3540301 – 1bp deletion in coding exon 2 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Inversion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001849
TUB2
P02557
Physiology
Inv_3540316_3543965 – 3649bp inversion – the text indicates that there is “a 1kb inversion that spans exon 1 and the promoter region” but the nucleotide numbers in the supplemental table indicates that 3.6kb are disrupted. Steffen Hahnel comment: we don't know the exact size of this large structural variation. I estimated conservatively from the BAM files that a region of 3649 bp is messed up in this strain compared to wildtype including one or more inversions. The largest inversion is around 1 kb. If one wants to be sure about size and location you would need to amplify this region by PCR N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Unknown
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001850
TUB2
P02557
Physiology
Del_3540369_3540369 and missense_variant_c.206A>G_3540373 E69G - the amino acid substitution (E69G) co-occurs with a deletion in exon 2 that is predicted to cause a frameshift in the ben-1 open reading frame – not sure which mutation or both are responsible for the phenotype N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001851
TUB2
P02557
Physiology
Del_3540407_3540408 – 1bp deletion in coding exon 2 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001852
TUB2
P02557
Physiology
Del_3540970_3544000 – 3030bp deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001853
TUB2
P02557
Physiology
Del_3541317_3541856 – 539 bp deletion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001854
TUB2
P02557
Physiology
splice_donor_variant and intron_variant – first coding exon – c.166+1G>A_3541427 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001855
TUB2
P02557
Physiology
stop_gained_HIGH_c.153T>G_3541441 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001856
TUB2
P02557
Physiology
Del_3541499_3541502 – 3bp deletion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001857
TUB2
P02557
Physiology
Ins_3541547_3541548 – 1 bp insertion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Bh4
Coloration (seed hull)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Zhu BF; Si L; Wang Z ; et al. (2011)
Genetic control of a transition from black to straw-white seed hull in rice domestication.
1 Additional References
GP00000143
Bh4
A0A0H3ZGK8
Morphology
22-bp deletion N
Oryza rufipogon
(species)
Oryza sativa
rice - (species) D
Bh4
Oryza sativa
rice - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002078
BHLH2
Q9CAD0
Morphology
two copies of 3.9-kb Tip100 integrated into bHLH2 exon 7 and intron 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002085
BHLH2
Q9CAD0
Morphology
only one copy of Tip100 in exon 7 and no apparent footprint of Tip100 in intron 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002086
BHLH2
Q9CAD0
Morphology
insertion of 838 bp IpMu1 in exon 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flowers; seeds)
Coding,
Insertion
N
Ipomoea tricolor
(species) D
Domesticated
Candidate Gene
Park KI; Choi JD; Hoshino A ; et al. (2004)
An intragenic tandem duplication in a transcriptional regulatory gene for anthocyanin biosynthesis c[...]
GP00002091
BHLH2
Q9CAD0
Morphology
intragenic tandem duplication of 3.3 kbp of the bHLH2 gene. Each of the tandem repeats is flanked by a 3-bp sequence AAT; indicating that the 3-bp microhomology is used to generate the tandem duplication. The transcripts in the pale-blue flower buds of the mutant contain an internal 583-bp tandem duplication that results in the production of a truncated polypeptide lacking the bHLH domain. The mRNA accumulation of most of the structural genes encoding enzymes for anthocyanin biosynthesis in the flower buds of the mutant was significantly reduced. The transcripts identical to the wild-type mRNAs for the transcriptional activator were present abundantly in blue spots of the variegated flowers whereas the transcripts containing the 583-bp tandem duplication were predominant in the pale-blue background of the same flowers. The flower and seed variegations studied here are likely to be caused by somatic homologous recombination between an intragenic tandem duplication in the gene encoding a bHLH transcriptional activator for anthocyanin biosynthesis. N
Ipomoea tricolor
(species)
Ipomoea tricolor
(species) D
bHLH2
Ipomoea tricolor
(species)
Published - Accepted by Curator
bHLH2
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Domesticated
Candidate Gene
Spelt C; Quattrocchio F; Mol J ; et al. (2002)
ANTHOCYANIN1 of petunia controls pigment synthesis, vacuolar pH, and seed coat development by geneti[...]
GP00002092
BHLH2
Q9CAD0
Morphology
insertion of a dTph1 transposon in the AN1 gene N
Petunia axillaris
(species)
Petunia axillaris
(species) D
bHLH2
Petunia axillaris
(species)
Published - Accepted by Curator
Bm-iAANAT
Coloration (larva)
Coding,
Deletion
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Zhan S; Guo Q; Li M ; et al. (2010)
Disruption of an N-acetyltransferase gene in the silkworm reveals a novel role in pigmentation.
1 Additional References
GP00000145
Aanat
D6MKR2
Morphology
126-bp deletion overlapping with end of exon 4 and resulting in misplicing. Linkage analysis and genomic studies have shown that Bombyx arylalkamine-N-acetyl transferase, the homologous gene (Dat) that converts dopamine into N-acetyl dopamine, encodes a precursor of N-acetyl dopamine, sclerotin in Drosophila and it is the gene responsible for mln. N
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Bm-iAANAT
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001488
BMH1
P29311
Physiology
C>G p.Y216* heterozygous. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001489
BMH1
P29311
Physiology
G>T p.E214*. Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Spor A; Kvitek DJ; Nidelet T ; et al. (2014)
Phenotypic and genotypic convergences are influenced by historical contingency and environment in ye[...]
GP00001490
BMH1
P29311
Physiology
A>T p.K217* (2 times independently). Truncated protein will lack the final helix of the C-terminus as well as a glutamine repeat known to be involved in protein/protein interactions N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
BMH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
BMH1
Growth rate (time to diauxic shift)
Coding,
SNP
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
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
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
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,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Martinez-Royo A; Jurado JJ; Smulders JP ; et al. (2008)
A deletion in the bone morphogenetic protein 15 gene causes sterility and increased prolificacy in R[...]
1 Additional References
GP00002158
Bmp15
Q9Z0L4
Physiology
c.525_541del17 p.Pro45Asnfs*54 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
Insertion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Lassoued N; Benkhlil Z; Woloszyn F ; et al. (2017)
FecX a Novel BMP15 mutation responsible for prolificacy and female sterility in Tunisian Barbarine [...]
GP00002159
Bmp15
Q9Z0L4
Physiology
C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BNA1
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001878
BNA1
P47096
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA1
[Candida] glabrata
(species)
Published - Accepted by Curator
BNA2
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001879
P47125NULL
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA2
[Candida] glabrata
(species)
Published - Accepted by Curator
BNA4
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001880
BNA4
P38169
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA4
[Candida] glabrata
(species)
Published - Accepted by Curator
BNA5
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001881
BNA5
Q05979
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA5
[Candida] glabrata
(species)
Published - Accepted by Curator
BNA6
Nicotinid acid metabolism
Gene Loss,
Deletion
N
[Candida] glabrata
(species) D
Interspecific
Candidate Gene
Domergue R; Castaño I; De Las Peñas A ; et al. (2005)
Nicotinic acid limitation regulates silencing of Candida adhesins during UTI.
GP00001882
BNA6
P43619
Physiology
Size of the deletion not mentioned in the paper N
Candida albicans
(species)
[Candida] glabrata
(species) D
BNA6
[Candida] glabrata
(species)
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
btr1
Seed shattering (grain dispersal ; retention)
Coding,
Deletion
N
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
Domesticated
Linkage Mapping
Pourkheirandish M; Hensel G; Kilian B ; et al. (2015)
Evolution of the Grain Dispersal System in Barley.
GP00001445
BTR1
A0A0K1RJT0
Physiology
1bp deletion at position 202 inducing a frameshift N
Hordeum vulgare
(species)
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
btr1
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies)
Published - Accepted by Curator
btr2
Seed shattering (grain dispersal ; retention)
Coding,
Deletion
N
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
Domesticated
Linkage Mapping
Pourkheirandish M; Hensel G; Kilian B ; et al. (2015)
Evolution of the Grain Dispersal System in Barley.
GP00001446
BTR2
A0A0K1RKV9
Physiology
11bp deletion at position 254-264 creating a frameshift N
Hordeum vulgare
(species)
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies) D
btr2
Hordeum vulgare subsp. vulgare
domesticated barley - (subspecies)
Published - Accepted by Curator
BvCPSF73-Ia
Bolting time
Coding,
Deletion
N
Beta vulgaris
(species) D
Intraspecific
Linkage Mapping
Tränkner C; Lemnian IM; Emrani N ; et al. (2016)
A Detailed Analysis of the BR Locus Suggests a New Mechanism for Bolting after Winter in Sugar Beet [...]
GP00001411
CPSF73-I
Q9C952
Physiology
2bp deletion causing a frameshift resulting in a two third truncated protein N
Beta vulgaris
(species)
Beta vulgaris
(species) D
BvCPSF73-Ia
Beta vulgaris
(species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry1Ac)
Coding,
Unknown
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Linkage Mapping
Xu X; Yu L; Wu Y (2005)
Disruption of a cadherin gene associated with resistance to Cry1Ac {delta}-endotoxin of Bacillus thu[...]
GP00000160
BtR
Q19KJ3
Physiology
premature stop codon in exon 4; truncated protein missing approximately two-thirds of the C terminus N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
cadherin
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Insertion
N
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Gahan LJ; Gould F; Heckel DG (2001)
Identification of a gene associated with Bt resistance in Heliothis virescens.
GP00000161
BtR
Q19KJ3
Physiology
Insertion of retrotransposon N
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
cadherin
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000162
BtR
Q19KJ3
Physiology
126bp in-frame deletion N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Linkage Mapping
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00000163
BtR
Q19KJ3
Physiology
202bp deletion N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
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 Cry2Ab toxin)
Coding,
Insertion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00002449
A0A1B0RHM4
Physiology
insertion into PgCad1 of an active chicken repeat (CR1) retrotransposon designated CR1-1_Pg. Unlike most other CR1 elements CR1-1_Pg is intact and transcribed by a flanking promoter. It contains target site duplications and has a relatively low number of copies. Examination of transcripts from the PgCad1 locus revealed that CR1-1_Pg disrupts both the cadherin protein and a long noncoding RNA of unknown function. N
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 Cry2Ab toxin)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
GP00002450
A0A1B0RHM4
Physiology
24-bp deletion in putative exon 21 causing the loss of eight amino acid residues N
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 Cry2Ab toxin)
Coding,
Deletion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
GP00002451
A0A1B0RHM4
Physiology
126-bp deletion spanning a putative intron 15/exon 16 splice site that introduces a premature stop codon and causes loss of the final 929 amino acid residues. N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
Insertion
N
Tribolium castaneum
red flour beetle - (species) D
Domesticated
Candidate Gene
Shirai Y; Daimon T (2020)
Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]
GP00002665
cd
Q9VCW2
Morphology
A fragment of a transposable element (about 5 kb - 99% identical in amino acids to a putative retrotransposon (XP_015838217)) is inserted into exon 6. This insertion introduced a premature stop codon just after the insertion site. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species) D
cardinal
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
Deletion
N
Tribolium castaneum
red flour beetle - (species) D
Domesticated
Candidate Gene
Shirai Y; Daimon T (2020)
Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]
GP00002666
cd
Q9VCW2
Morphology
1-bp deletion in exon 6 that causes a frameshift mutation. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species) D
cardinal
Tribolium castaneum
red flour beetle - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
SNP
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Candidate Gene
Osanai-Futahashi M; Tatematsu KI; Futahashi R ; et al. (2016)
Positional cloning of a Bombyx pink-eyed white egg locus reveals the major role of cardinal in ommoc[...]
GP00002667
cd
Q9VCW2
Morphology
Missense mutation in a conserved motif in exon 9. The tryptophan residue which is converted to arginine in the two pe strains is widely conserved in holometabolous insects. N
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
cardinal
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
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
Cf-2.1 and Cf-2.2
Pathogen resistance (leaf mold fungus ; root parasitic nematode)
Gene Loss,
Deletion
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Dixon MS; Jones DA; Keddie JS ; et al. (1996)
The tomato Cf-2 disease resistance locus comprises two functional genes encoding leucine-rich repeat[...]
2 Additional References
GP00000180
Q41398
Physiology
loss of the two genes Cf-2.1 and Cf-2.2 (see Dixon et al. 1998) in cultivated tomato - resistance re-acquired from related species N
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species) D
Cf-2.1 and Cf-2.2
Solanum lycopersicum
tomato - (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
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
3 Mutations:
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Amrad A; Moser M; Mandel T ; et al. (2016)
Gain and Loss of Floral Scent Production through Changes in Structural Genes during Pollinator-Media[...]
GP00001391
CNL
A0A172W603
Physiology
3 mutations
Petunia axillaris
(species)
Petunia exserta
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Petunia exserta
(species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
Coding,
SNP
N
Capsella rubella
(species) D
Interspecific
Linkage Mapping
Sas C; Müller F; Kappel C ; et al. (2016)
Repeated Inactivation of the First Committed Enzyme Underlies the Loss of Benzaldehyde Emission afte[...]
GP00001767
CNL
A0A172W603
Physiology
serine-to-arginine exchange at position 453 (T-to-A nucleotide exchange at genomic position 7 539 424) - this mutation is located immediately next to highly conserved amino acids predicted to be involved in adenosine monophosphate and coenzyme A binding; it involves two biochemically very dissimilar amino acids; and the serine at this position is conserved N
Capsella grandiflora
(species)
Capsella rubella
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Capsella rubella
(species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
Coding,
Deletion
N
Capsella rubella
(species) D
Interspecific
Linkage Mapping
Sas C; Müller F; Kappel C ; et al. (2016)
Repeated Inactivation of the First Committed Enzyme Underlies the Loss of Benzaldehyde Emission afte[...]
GP00001768
CNL
A0A172W603
Physiology
a 4 bp deletion resulting in a frameshift 795 bp downstream of the start codon and causing a premature stop codon N
Capsella grandiflora
(species)
Capsella rubella
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Capsella rubella
(species)
Published - Accepted by Curator
CINNAMOYL CO-A REDUCTASE 1
Fiber content
Coding,
Unknown
N
Brassica napus
rape - (species)
Domesticated
Linkage Mapping
Liu L; Stein A; Wittkop B ; et al. (2012)
A knockout mutation in the lignin biosynthesis gene CCR1 explains a major QTL for acid detergent lig[...]
GP00000186
CCR1
Q9S9N9
Physiology
Frameshift mutation in exon1 N
Brassica napus
rape - (species)
Brassica napus
rape - (species)
CINNAMOYL CO-A REDUCTASE 1
Brassica napus
rape - (species)
Published - Accepted by Curator
CMAH
Blood type (feline ABC)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Intraspecific
Candidate Gene
Omi T; Nakazawa S; Udagawa C ; et al. (2016)
Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) [...]
2 Additional References
GP00002165
Cmah
Q61419
Physiology
c.1322delT p.Leu441* N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
CMAH
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
SNP
N
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Darboux I; Charles JF; Pauchet Y ; et al. (2007)
Transposon-mediated resistance to Bacillus sphaericus in a field-evolved population of Culex pipiens[...]
GP00002102
Q95WY5
Physiology
Gln396Stop - nonsense mutation which causes the loss of the C-terminal domain required for a proper anchoring of the receptor to the cell surface and thus disrupts a crucial step in the toxic properties of B. sphaericus toxin. N
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Cpm1
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
Insertion
N
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Darboux I; Charles JF; Pauchet Y ; et al. (2007)
Transposon-mediated resistance to Bacillus sphaericus in a field-evolved population of Culex pipiens[...]
GP00002103
Q95WY5
Physiology
Insertion of a 451-bpTE into the exon 2 of the toxin receptor gene. The insertion induces a new mRNA splicing event that creates a shorter transcript. This new transcript encodes an altered receptor unable to interact with the toxin resulting in resistance to this insecticide. The missing portion includes GPI-anchoring signals N
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Cpm1
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
Deletion
N
Culex quinquefasciatus
southern house mosquito - (species) D
Intraspecific
Candidate Gene
Guo QY; Cai QX; Yan JP ; et al. (2013)
Single nucleotide deletion of cqm1 gene results in the development of resistance to Bacillus sphaeri[...]
1 Additional References
GP00002552
Q95WY5
Physiology
one-nucleotide deletion which results in a premature stop codon and leads to production of a truncated protein. N
Culex quinquefasciatus
southern house mosquito - (species)
Culex quinquefasciatus
southern house mosquito - (species) D
Cpm1
Culex quinquefasciatus
southern house mosquito - (species)
Published - Accepted by Curator
CS
Plant secondary metabolite (pungency)
Cis-regulatory,
Deletion
N
Capsicum annuum
(species) D
Domesticated
Candidate Gene
Kim S; Park M; Yeom SI ; et al. (2014)
Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum speci[...]
1 Additional References
GP00001447
csy1
Q09UW1
Physiology
Large 2.5 kb deletion spanning 1.8 kb of the putative promoter and 0.7 kb of the first exon was observed in the C. annuum Bellpeppers N
Capsicum frutescens
(species)
Capsicum annuum
(species) D
CS
Capsicum annuum
(species)
Published - Accepted by Curator
CYC8
Salt tolerance (experimental evolution)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Anderson JB; Funt J; Thompson DA ; et al. (2010)
Determinants of divergent adaptation and Dobzhansky-Muller interaction in experimental yeast populat[...]
1 Additional References
GP00000195
CYC8
P14922
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
CYC8
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
CYP(T)
Flower morphology (style length)
Coding,
Insertion
N
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001394
CYP734A1
O48786
Morphology
single base insertion in exon 2 introduces a disruptive premature stop codon N
Primula vulgaris
(species)
Primula vulgaris
(species) D
CYP(T)
Primula vulgaris
(species)
Published - Accepted by Curator
CYP2J19
Coloration (red vs yellow beak)
Gene Loss,
Deletion
N
Taeniopygia guttata
zebra finch - (species) D
Domesticated
Linkage Mapping
Mundy NI; Stapley J; Bennison C ; et al. (2016)
Red Carotenoid Coloration in the Zebra Finch Is Controlled by a Cytochrome P450 Gene Cluster.
GP00000202
CYP2J2
P51589
Morphology
13kb deletion including complete loss of the CYP2J19A copy and cis-regulatory effects on CYP2J19B N
Taeniopygia guttata
zebra finch - (species)
Taeniopygia guttata
zebra finch - (species) D
CYP2J19
Taeniopygia guttata
zebra finch - (species)
Published - Accepted by Curator
CYP76AD1
Coloration
Coding,
Insertion
N
Beta vulgaris
(species) D
Domesticated
Linkage Mapping
Hatlestad GJ; Sunnadeniya RM; Akhavan NA ; et al. (2012)
The beet R locus encodes a new cytochrome P450 required for red betalain production.
GP00000210
CYP76AD1
I3PFJ5
Morphology
5bp insertion resulting in frameshift N
Beta vulgaris
(species)
Beta vulgaris
(species) D
CYP76AD1
Beta vulgaris
(species)
Published - Accepted by Curator
CYP79D15
Toxicity levels (cyanogenic glucoside)
Gene Loss,
Deletion
N
Trifolium repens
white clover - (species) D
Intraspecific
Linkage Mapping
Olsen KM; Hsu SC; Small LL (2008)
Evidence on the molecular basis of the Ac/ac adaptive cyanogenesis polymorphism in white clover (Tri[...]
1 Additional References
GP00000211
CYP79D15
B2Y2T9
Physiology
Gene deletion N
Trifolium repens
white clover - (species)
Trifolium repens
white clover - (species) D
CYP79D15
Trifolium repens
white clover - (species)
Published - Accepted by Curator
DCAR-032551
Carotenoid content
Coding,
Insertion
N
Daucus carota
carrot - (species) D
Domesticated
Linkage Mapping
Iorizzo M; Ellison S; Senalik D ; et al. (2016)
A high-quality carrot genome assembly provides new insights into carotenoid accumulation and asterid[...]
GP00001568
DCAR_032551
A0A162A3G8
Morphology
A 212-nt insertion in exon 2 that creates a frameshift mutation N
Daucus carota
carrot - (species)
Daucus carota
carrot - (species) D
DCAR-032551
Daucus carota
carrot - (species)
Published - Accepted by Curator
DEEPER ROOTING 1
Drought tolerance
Root growth
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Uga Y; Sugimoto K; Ogawa S ; et al. (2013)
Control of root system architecture by DEEPER ROOTING 1 increases rice yield under drought condition[...]
GP00000215
Dro1
Q69P88
Physiology
Morphology
1bp deletion within exon 4 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
DEEPER ROOTING 1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Delta-1-pyrroline-5-carboxylate synthase A
Drought response (drought-induced proline accumulation)
2 Mutations:
Coding
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kesari R; Lasky JR; Villamor JG ; et al. (2012)
Intron-mediated alternative splicing of Arabidopsis P5CS1 and its association with natural variation[...]
GP00001280
P5CSA
P54887
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Delta-1-pyrroline-5-carboxylate synthase A
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
dentin sialophosphoprotein (DSPP)
Tooth absence (no enamel production)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001936
DSPP
Q9NZW4
Physiology
synteny of the corresponding region - only the N-terminal region of DSPP is present in the genome - 1-bp deletion in exon one leading to a reading frame shift were this sequence to be translated N
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
dentin sialophosphoprotein (DSPP)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
DEP1
Grain yield
Coding,
Indel
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Huang X; Qian Q; Liu Z ; et al. (2009)
Natural variation at the DEP1 locus enhances grain yield in rice.
GP00000218
P0046G12.12-1
Q67UU9
Morphology
replacement of a 637bp stretch of the middle of exon5 by a 12-bp sequence creating a premature stop codon and consequently a loss of 230 residues from the C-terminus N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
DEP1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Dihydroflavonol 4 reductase (MlDfr)
Coloration (flower)
Coding,
Insertion
N
Erythranthe lewisii
(species) D
Intraspecific
Candidate Gene
Wu CA; Streisfeld MA; Nutter LI ; et al. (2013)
The genetic basis of a rare flower color polymorphism in Mimulus lewisii provides insight into the r[...]
GP00001457
DFRA
P51102
Morphology
A 2 nt (TG) insertion at position 265 causing a frameshift and a greatly truncated protein of 106 aa only about one-fourth of its functional length N
Erythranthe lewisii
(species)
Erythranthe lewisii
(species) D
Dihydroflavonol 4 reductase (MlDfr)
Erythranthe lewisii
(species)
Published - Accepted by Curator
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
Dvl2
Organ size (tail)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Mansour TA; Lucot K; Konopelski SE ; et al. (2018)
Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 [...]
GP00002110
DVL2
O14641
Morphology
single base deletion found on CFA 5(g.32195043_32195044del) that is homozygous in the three screw tail breeds - predicted to lead to a frameshift mutation and cause a premature stop codon that truncates the translated protein by 23 amino acids (p.Pro684LeufsX26) - 26 altered amino acids are predicted to be present in the highly conserved C-terminus of the mutant protein. N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
Dvl2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
dwarf-8 (d8)
Plant size (dwarfism)
Coding,
Deletion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Peng J; Richards DE; Hartley NM ; et al. (1999)
'Green revolution' genes encode mutant gibberellin response modulators.
2 Additional References
GP00000241
D8
Q9ST48
Morphology
330bp deletion to V84 N
Zea mays
(species)
Zea mays
(species) D
dwarf-8 (d8)
Zea mays
(species)
Published - Accepted by Curator
EARLY FLOWERING 3 (here = Mat-a)
Flowering time
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Zakhrabekova S; Gough SP; Braumann I ; et al. (2012)
Induced mutations in circadian clock regulator Mat-a facilitated short-season adaptation and range e[...]
GP00000243
ELF3
O82804
Physiology
4bp deletion resulting in truncated protein ; this deletion seem to have evolved multiple times (fragile site?) N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
EARLY FLOWERING 3 (here = Mat-a)
Hordeum vulgare
(species)
Published - Accepted by Curator
EARLY FLOWERING 3(ELF3)
Flowering time (latitudinal adaptation)
Coding,
Deletion
N
Glycine max
soybean - (species) D
Domesticated
Linkage Mapping
Lu S; Zhao X; Hu Y ; et al. (2017)
Natural variation at the soybean J locus improves adaptation to the tropics and enhances yield.
GP00001683
CYP75B1
Q9SD85
Physiology
recessive allele responsible for the LJ trait - 10-bp deletion predicted to cause a frameshift resulting in premature termination of translation after 195 amino acids in the 714-amino-acid protein N
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
EARLY FLOWERING 3(ELF3)
Glycine max
soybean - (species)
Published - Accepted by Curator
EARLY FLOWERING 3/ EARLY MATURITY 8
Flowering time
Coding,
SNP
N
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Faure S; Turner AS; Gruszka D ; et al. (2012)
Mutation at the circadian clock gene EARLY MATURITY 8 adapts domesticated barley (Hordeum vulgare) t[...]
GP00000245
ELF3
O82804
Physiology
Premature stop codon; C-to-T point mutation in exon 2 N
Hordeum vulgare
(species)
Hordeum vulgare
(species)
EARLY FLOWERING 3/ EARLY MATURITY 8
Hordeum vulgare
(species)
Published - Accepted by Curator
EARLY FLOWERING 3/ EARLYMATURITY8
Flowering time
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Faure S; Turner AS; Gruszka D ; et al. (2012)
Mutation at the circadian clock gene EARLY MATURITY 8 adapts domesticated barley (Hordeum vulgare) t[...]
GP00000246
ELF3
O82804
Physiology
4bp deletion resulting in truncated protein ; this deletion seem to have evolved multiple times (fragile site?) N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
EARLY FLOWERING 3/ EARLYMATURITY8
Hordeum vulgare
(species)
Published - Accepted by Curator
EDAR
Scales (reduced)
Coding,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002359
EDAR
Q9UNE0
Morphology
Several deletions in the EDAR1 coding region. N
Danio rerio
zebrafish - (species)
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
EDAR
Sinocyclocheilus anshuiensis
(species)
Sinocyclocheilus grahami
(species)
Sinocyclocheilus rhinocerous
(species)
Published - Accepted by Curator
EDAR
Scales (reduced)
Coding,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002360
EDAR
Q9UNE0
Morphology; Physiology
Deletion of a large part of the EDAR2 coding region. N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
EDAR
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth absence (no enamel production)
Gene Loss,
Deletion
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001935
ENAM
Q9NRM1
Physiology
synteny of the corresponding region - the gene has been likely deleted from the chicken genome as a consequence of intrachromosomal rearrangements which have probably occurred in the lineage that led to the last common ancestor of modern birds N
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
enamelin (ENAM)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth absence (no enamel production)
Coding,
Deletion
N
Eubalaena glacialis
North Atlantic right whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Eschrichtius robustus
grey whale - (species) D
Caperea marginata
pygmy right whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
1 Additional References
GP00001939
ENAM
Q9NRM1
Physiology
1-bp deletion. Various frameshift mutations were found in the distinct species. N
Cetacea
whales - (order)
Eubalaena glacialis
North Atlantic right whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Eschrichtius robustus
grey whale - (species) D
Caperea marginata
pygmy right whale - (species) D
enamelin (ENAM)
Eubalaena glacialis
North Atlantic right whale - (species)
Megaptera novaeangliae
humpback whale - (species)
Eschrichtius robustus
grey whale - (species)
Caperea marginata
pygmy right whale - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
2 Mutations:
Coding
Deletion
N
Kogia sima
dwarf sperm whale - (species) D
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
1 Additional References
GP00001942
ENAM
Q9NRM1
Physiology
2 mutations
Physeter catodon
sperm whale - (species)
Kogia sima
dwarf sperm whale - (species) D
Kogia breviceps
pygmy sperm whale - (species) D
enamelin (ENAM)
Kogia sima
dwarf sperm whale - (species)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
3 Mutations:
Coding
N
Orycteropus afer
aardvark - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
GP00001943
ENAM
Q9NRM1
Physiology
3 mutations
Elephantulus rufescens
East African long-eared elephant shrew - (species)
Orycteropus afer
aardvark - (species) D
enamelin (ENAM)
Orycteropus afer
aardvark - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
Coding,
Unknown
N
Manis pentadactyla
Chinese pangolin - (species) D
Manis tricuspis
Tree pangolin - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
GP00001944
ENAM
Q9NRM1
Physiology
multiple deletions and insertions less than 9bp causing frameshift N
Canis lupus familiaris
dog - (subspecies)
Manis pentadactyla
Chinese pangolin - (species) D
Manis tricuspis
Tree pangolin - (species) D
enamelin (ENAM)
Manis pentadactyla
Chinese pangolin - (species)
Manis tricuspis
Tree pangolin - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
Coding,
Unknown
N
Bradypus tridactylus
Pale-throated sloth - (species) D
Tamandua tetradactyla
southern tamandua - (species) D
Dasypus novemcinctus
nine-banded armadillo - (species) D
Euphractus sexcinctus
(species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
GP00001945
ENAM
Q9NRM1
Physiology
multiple frameshift insertions and deletions N
Canis lupus familiaris
dog - (subspecies)
Bradypus tridactylus
Pale-throated sloth - (species) D
Tamandua tetradactyla
southern tamandua - (species) D
Dasypus novemcinctus
nine-banded armadillo - (species) D
Euphractus sexcinctus
(species) D
enamelin (ENAM)
Bradypus tridactylus
Pale-throated sloth - (species)
Tamandua tetradactyla
southern tamandua - (species)
Dasypus novemcinctus
nine-banded armadillo - (species)
Euphractus sexcinctus
(species)
Published - Accepted by Curator
enamelysin (MMP20)
Tooth absence (no enamel production)
Coding,
Insertion
N
Balaenoptera physalus
Fin whale - (species) D
Balaena mysticetus
bowhead whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Cheng J ; et al. (2011)
Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]
GP00001940
MMP20
O60882
Physiology
insertion of a CHR-2 SINE retroposon in exon 2 of MMP20 which would result in premature truncation of the MMP20 protein owing to stop codons in all possible reading frames of the CHR-2 SINE. The length of the MMP20 SINE ranges from 302 bp (B. musculus) to 318 bp (B. physalus). This mutation is found in eight investigated species of baleen whales. Other inactivating mutations (nonsense and frameshift mutations) are found in various species N
Physeter catodon
sperm whale - (species)
Balaenoptera physalus
Fin whale - (species) D
Balaena mysticetus
bowhead whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
enamelysin (MMP20)
Balaenoptera physalus
Fin whale - (species)
Balaena mysticetus
bowhead whale - (species)
Megaptera novaeangliae
humpback whale - (species)
Published - Accepted by Curator
enamelysin (MMP20)
Tooth composition (no enamel production)
Coding,
SNP
N
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Cheng J ; et al. (2011)
Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]
GP00001941
MMP20
O60882
Physiology
opal stop codon (TGA) in the propeptide-coding region of MMP20 exon 2 in a single individual of the pygmy sperm whale Kogia breviceps N
Kogia sima
dwarf sperm whale - (species)
Kogia breviceps
pygmy sperm whale - (species) D
enamelysin (MMP20)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
Epithiospecifier protein (ESP)
Plant secondary metabolite (glucosinolate)
Herbivore resistance
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Lambrix V; Reichelt M; Mitchell-Olds T ; et al. (2001)
The Arabidopsis epithiospecifier protein promotes the hydrolysis of glucosinolates to nitriles and i[...]
GP00000279
ESP
Q8RY71
Physiology
Physiology
deletion of 124 bases that eliminates a splice site and 100 nucleotides of the ORF N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Epithiospecifier protein (ESP)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000286
ERG3
P32353
Physiology
Arg63Stop A187T in line 21 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001744
ERG3
P32353
Physiology
Ser76Stop C227A in line 22 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001745
ERG3
P32353
Physiology
Ser95Stop C284A in line 23 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001746
ERG3
P32353
Physiology
Trp205Stop G615A in line 24 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001747
ERG3
P32353
Physiology
Trp205Stop G615A in line 25 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001748
ERG3
P32353
Physiology
Trp205Stop G615A in line 26 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001749
ERG3
P32353
Physiology
Trp205Stop G615A in line 27 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001750
ERG3
P32353
Physiology
29-bp duplication in line 28 at nucleotide position 641 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001751
ERG3
P32353
Physiology
Trp219Stop G656A in line 29 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001752
ERG3
P32353
Physiology
Gly235Ser G703A in line 30 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001753
ERG3
P32353
Physiology
Tyr299Stop C897A in line 31 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001754
ERG3
P32353
Physiology
Gly300Arg G898C in line 32 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
SNP
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001755
ERG3
P32353
Physiology
Asp307Ala A920C in line 33 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001756
ERG3
P32353
Physiology
1-bp deletion in line 34
A980- N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001757
ERG3
P32353
Physiology
60-bp deletion at position 253 in line 35 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
ERG5
Xenobiotic resistance (drug)
Coding,
Deletion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00000287
ERG5
P54781
Physiology
60bp deletion N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG5
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
FAD2 (BnaA.FAD2.a)
Oil composition
Oil yield
Coding,
Insertion
N
Brassica napus
rape - (species) D
Domesticated
Linkage Mapping
Yang Q; Fan C; Guo Z ; et al. (2012)
Identification of FAD2 and FAD3 genes in Brassica napus genome and development of allele-specific ma[...]
GP00000302
FAD2
P46313
Physiology
Physiology
4bp insertion resulting in frameshift and premature stop codon N
Brassica napus
rape - (species)
Brassica napus
rape - (species) D
FAD2 (BnaA.FAD2.a)
Brassica napus
rape - (species)
Published - Accepted by Curator
FAD2A
Oil composition (oleate levels)
Coding,
SNP
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Jung S; Powell G; Moore K ; et al. (2000)
The high oleate trait in the cultivated peanut [Arachis hypogaea L]. II. Molecular basis and genetic[...]
GP00002075
FAD2A
E2GJC1
Physiology
D150N in a residue that is absolutely conserved among other desaturases N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2A
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
FAD2B
Oil composition (oleate levels)
Coding,
Insertion
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Patel M; Jung S; Moore K ; et al. (2004)
High-oleate peanut mutants result from a MITE insertion into the FAD2 gene.
GP00002073
FAD2B
Q9LKK6
Physiology
insertion of 205-bp miniature inverted-repeat transposable element (MITE) called ahMITE1 at position 665 near the center of the coding region in the case of MF; which causes a frameshift N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2B
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
FAD2B
Oil composition (oleate levels)
Coding,
Insertion
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Patel M; Jung S; Moore K ; et al. (2004)
High-oleate peanut mutants result from a MITE insertion into the FAD2 gene.
GP00002074
FAD2B
Q9LKK6
Physiology
insertion of 205-bp miniature inverted-repeat transposable element (MITE) called ahMITE1 at position 997 of the coding region; which causes a frameshift N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2B
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
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 (length)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007)
Mutations within the FGF5 gene are associated with hair length in cats.
1 Additional References
GP00000311
Fgf5
P15656
Morphology
c.474delT resulting in frameshift N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
FGF5
Felis catus
domestic cat - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
N
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Legrand R; Tiret L; Abitbol M (2014)
Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.
GP00001369
Fgf5
P15656
Morphology
c.433_434delAT frameshift deletion leading to a stop codon at position 159 N
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
FGF5
Equus asinus
ass - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Equus asinus
ass - (species) D
Domesticated
Candidate Gene
Legrand R; Tiret L; Abitbol M (2014)
Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.
GP00001370
Fgf5
P15656
Morphology
c.245G>A p.W82* nonsense mutation leading to stop codon at position 82 N
Equus asinus
ass - (species)
Equus asinus
ass - (species) D
FGF5
Equus asinus
ass - (species)
Published - Accepted by Curator
FGF5
Hair length (length)
Coding,
Insertion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007)
Mutations within the FGF5 gene are associated with hair length in cats.
1 Additional References
GP00002172
Fgf5
P15656
Morphology
c.ins356T resulting in frameshift N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
FGF5
Felis catus
domestic cat - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
N
Mesocricetus auratus
golden hamster - (species) D
Domesticated
Candidate Gene
Yoshizawa Y; Wada K; Shimoi G ; et al. (2015)
A 1-bp deletion in Fgf5 causes male-dominant long hair in the Syrian hamster.
GP00002173
Fgf5
P15656
Morphology
c.546delG p.Arg184GlyfsX6 N
Mesocricetus auratus
golden hamster - (species)
Mesocricetus auratus
golden hamster - (species) D
FGF5
Mesocricetus auratus
golden hamster - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Cavia porcellus
domestic guinea pig - (species) D
Domesticated
Candidate Gene
Yu F; Liu Z; Jiao S ; et al. (2018)
A nonsense mutation in the FGF5 gene is associated with the long-haired phenotype in domestic guinea[...]
GP00002178
Fgf5
P15656
Morphology
c.403C>T p.Arg135* N
Cavia porcellus
domestic guinea pig - (species)
Cavia porcellus
domestic guinea pig - (species) D
FGF5
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Indel
N
Lama glama
llama - (species) D
Domesticated
Candidate Gene
Daverio MS; Vidal-Rioja L; Frank EN ; et al. (2017)
Molecular characterization of the llama FGF5 gene and identification of putative loss of function mu[...]
GP00002179
Fgf5
P15656
Morphology
a single base deletion (c.348delA) + a 12-bp insertion (c.351_352insCATATAACATAG) N
Lama guanicoe
guanaco - (species)
Lama glama
llama - (species) D
FGF5
Lama glama
llama - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
SNP
N
Lama glama
llama - (species) D
Vicugna pacos
alpaca - (species) D
Domesticated
Candidate Gene
Daverio MS; Vidal-Rioja L; Frank EN ; et al. (2017)
Molecular characterization of the llama FGF5 gene and identification of putative loss of function mu[...]
2 Additional References
GP00002180
Fgf5
P15656
Morphology
transition C>T at position 499 downstream of the ATG codon with transcriptional readthrough ; difference in post-transcriptional readthrough may underlie the different fleece types of the alpaca suri and huacaya breeds ; derived allele was introgressed from lamas to alpacas N
Lama guanicoe
guanaco - (species)
Lama glama
llama - (species) D
Vicugna pacos
alpaca - (species) D
FGF5
Lama glama
llama - (species)
Vicugna pacos
alpaca - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
N
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Hébert JM; Rosenquist T; Götz J ; et al. (1994)
FGF5 as a regulator of the hair growth cycle: evidence from targeted and spontaneous mutations.
1 Additional References
GP00002441
Fgf5
P15656
Morphology
Deletion which extends at least 2kb upstream of the Fgf5 translational start site and terminates at the end of the first exon or beginning of the first intron. N
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
FGF5
Mus musculus
house mouse - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Deletion
N
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Mizuno S; Iijima S; Okano T ; et al. (2011)
Retrotransposon-mediated Fgf5(go-Utr) mutant mice with long pelage hair.
GP00002442
Fgf5
P15656
Morphology
Deletion of a 9.3-kb region in the Fgf5 gene including exon 3 and its 5' and 3' flanking sequences. The genomic deletion site also shows insertion of a 498-bp early transposon element long terminal repeat. N
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
FGF5
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Fgfr1a1
Scales (loss)
Coding,
Deletion
N
Cyprinus carpio
common carp - (species) D
Domesticated
Candidate Gene
Rohner N; Bercsényi M; Orbán L ; et al. (2009)
Duplication of fgfr1 permits Fgf signaling to serve as a target for selection during domestication.
GP00000312
fgfr1a
Q90Z00
Morphology
deletion of 310 bp N
Cyprinus carpio
common carp - (species)
Cyprinus carpio
common carp - (species) D
Fgfr1a1
Cyprinus carpio
common carp - (species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Deletion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000315
CYP75B1
Q9SD85
Morphology
-1bp at +973 resulting in premature stop codon N
Glycine max
soybean - (species)
Glycine soja
(species) D
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
Flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers; pubescence; seeds)
Coding,
Deletion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000316
CYP75B1
Q9SD85
Morphology
-1bp at +1164 resulting in premature stop codon N
Glycine max
soybean - (species)
Glycine soja
(species) D
Flavonoid 3'-hydroxylase (F3'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Zufall RA; Rausher MD (2003 Nov-Dec)
The genetic basis of a flower color polymorphism in the common morning glory (Ipomoea purpurea).
3 Additional References
GP00000319
CYP75B1
Q9SD85
Morphology
insertion of the 0.55-kb DNA transposable element Tip201 belonging to the Ac/Ds superfamily. No excision of Tip201 from the F3'H gene could be detected. Both splicing and polyadenylation patterns of the F3'H transcripts were affected by the Tip201 integration. N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
flavonoid 3'-hydroxylase (F3'H)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (seed; pods)
Coding,
Deletion
N
Glycine max
soybean - (species) D
Domesticated
Linkage Mapping
Toda K; Yang D; Yamanaka N ; et al. (2002)
A single-base deletion in soybean flavonoid 3'-hydroxylase gene is associated with gray pubescence c[...]
1 Additional References
GP00000321
CYP75B1
Q9SD85
Morphology
1bp deletion resulting in frameshift N
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
flavonoid 3'-hydroxylase (F3'H)
Glycine max
soybean - (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'-hydroxylase (F3'H)
Coloration (flowers)
Coding,
Insertion
N
Ipomoea tricolor
(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[...]
GP00002088
CYP75B1
Q9SD85
Morphology
a single T insertion generating the stop codon TAG. The accumulation of the F3'H transcripts is drastically reduced by the nonsense-mediated RNA decay. N
Ipomoea tricolor
(species)
Ipomoea tricolor
(species) D
flavonoid 3'-hydroxylase (F3'H)
Ipomoea tricolor
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers; pubescence; seeds)
Coding,
Insertion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000322
CYP75A2
P37120
Morphology
53bp insertion at +1352 N
Glycine max
soybean - (species)
Glycine soja
(species) D
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Gene Loss,
Complex Change
N
Iochroma cyaneum
(species)
Interspecific
Linkage Mapping
Smith SD; Rausher MD (2011)
Gene loss and parallel evolution contribute to species difference in flower color.
GP00000324
CYP75A2
P37120
Morphology
Large deletion N
Iochroma cyaneum
(species)
Iochroma cyaneum
(species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Iochroma cyaneum
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Coding,
Deletion
N
Pisum sativum
pea - (species) D
Domesticated
Linkage Mapping
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.
GP00000327
CYP75A2
P37120
Morphology
23bp deletion reuslting in frameshift and truncated protein N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species) D
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-2
Flowering time
Coding,
Deletion
N
Brassica oleracea
wild cabbage - (species) D
Domesticated
Linkage Mapping
Okazaki K; Sakamoto K; Kikuchi R ; et al. (2007)
Mapping and characterization of FLC homologs and QTL analysis of flowering time in Brassica oleracea[...]
GP00000339
FLC
Q9S7Q7
Physiology
1bp deletion resulting in frameshift N
Brassica oleracea
wild cabbage - (species)
Brassica oleracea
wild cabbage - (species) D
FLC-2
Brassica oleracea
wild cabbage - (species)
Published - Accepted by Curator
FLM (MAF1)
Flowering time
Gene Loss,
Complex Change
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Warthmann N ; et al. (2005)
Quantitative trait locus mapping and DNA array hybridization identify an FLM deletion as a cause for[...]
GP00000341
AGL27
Q9AT76
Physiology
Deletion of entire gene N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLM (MAF1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Flowering locus T (FT1)
Flowering time
Coding,
Deletion
N
Helianthus annuus
common sunflower - (species) D
Domesticated
Linkage Mapping
Blackman BK; Strasburg JL; Raduski AR ; et al. (2010)
The role of recently derived FT paralogs in sunflower domestication.
GP00000346
FT
Q9SXZ2
Physiology
1bp deletion; frameshift N
Helianthus annuus
common sunflower - (species)
Helianthus annuus
common sunflower - (species) D
Flowering locus T (FT1)
Helianthus annuus
common sunflower - (species)
Published - Accepted by Curator
FOXI3
Hair (hypotrichosis)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Drögemüller C; Karlsson EK; Hytönen MK ; et al. (2008)
A mutation in hairless dogs implicates FOXI3 in ectodermal development.
GP00000351
FOXI3
B5RHS5
Morphology
Frameshift; 7-bp duplication within exon 1 N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FOXI3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FPN2
Metal tolerance
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Morrissey J; Baxter IR; Lee J ; et al. (2009)
The ferroportin metal efflux proteins function in iron and cobalt homeostasis in Arabidopsis.
GP00000354
IREG2
F4KGN5
Physiology
1bp insertion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FPN2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Johanson U; West J; Lister C ; et al. (2000)
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering tim[...]
GP00000357
FRI
P0DH90
Physiology
16bp deletion aa313-318 in exon 2 and premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Indel
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Johanson U; West J; Lister C ; et al. (2000)
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering tim[...]
1 Additional References
GP00000358
FRI
P0DH90
Physiology
376 bp deletion and 31 bp insertion that delete amino acid 1-15 and at best produce a 45-aa protein N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Indel
N
Arabidopsis thaliana
thale cress - (species) D
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[...]
GP00000359
FRI
P0DH90
Physiology
Del 2257-2355 in exon 3; deletion of 99 bp combined with an insertion of 61 bp N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
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[...]
GP00000360
FRI
P0DH90
Physiology
1bp deletion at 1487 in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
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[...]
GP00000361
FRI
P0DH90
Physiology
1bp insertion at 766 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
1 Additional References
GP00000362
FRI
P0DH90
Physiology
Insertion 1 bp at 1454 in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
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,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000366
FRI
P0DH90
Physiology
deletion; E430* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000369
FRI
P0DH90
Physiology
deletion resulting in S121* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000370
FRI
P0DH90
Physiology
deletion; AF375-6* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000371
FRI
P0DH90
Physiology
insertion; I490* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000372
FRI
P0DH90
Physiology
insertion; T258* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
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
FUT2
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
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
GP00000379
FUT2
Q10981
Physiology
9.3 kb deletion mediated by recombination between Alu sequences N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
FUT2
Homo sapiens
human - (species)
Published - Accepted by Curator
FUT2
ABO antigen blood type
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Kelly RJ; Rouquier S; Giorgi D ; et al. (1995)
Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...]
2 Additional References
GP00000380
FUT2
Q10981
Physiology
10 kb deletion mediated by recombination between Alu sequences N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
FUT2
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
gastrin
Digestion (absence of stomach)
Gene Loss,
Deletion
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.
GP00001914
GAST
P01350
Physiology
Absence of the gene in the genome sequence - high synteny N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
gastrin
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Gene Loss,
Deletion
N
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
GP00001238
GL1
P27900
Morphology
gene loss: -4.7KB at position -948bp N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
Insertion
N
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
GP00001240
GL1
P27900
Morphology
+1bp at position 352 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLABROUS1
Trichome density (leaf)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
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
GP00001241
GL1
P27900
Morphology
-1bp at position 203 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
glb-5
CO2 avoidance
Aggregation behavior
Coding,
Indel
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
McGrath PT; Rockman MV; Zimmer M ; et al. (2009)
Quantitative mapping of a digenic behavioral trait implicates globin variation in C. elegans sensory[...]
2 Additional References
GP00000399
glb-5
A3RMS5
Behavior
Behavior
765bp insertion/duplication resulting in a truncation of the last 179 amino acids of the protein and the inclusion of 40 different residues N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
glb-5
Caenorhabditis elegans
(species)
Published - Accepted by Curator
GLC-1
Xenobiotic resistance (antihelmintics)
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Ghosh R; Andersen EC; Shapiro JA ; et al. (2012)
Natural variation in a chloride channel subunit confers avermectin resistance in C. elegans.
GP00000400
glc-1
G5EBR3
Physiology
4aa deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
GLC-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
GLO(T)
Flower morphology (anther elevation)
Coding,
Insertion
N
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001393
GLO
Q03378
Morphology
A 2.5 kb retrotransposon in exon 2 severely truncates the protein N
Primula vulgaris
(species)
Primula vulgaris
(species) D
GLO(T)
Primula vulgaris
(species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Deletion
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[...]
GP00001671
GPRC6A
Q5T6X5
Physiology
KGRKLP>KGK--Y in the third intracellular loop (ICL3) responsible for the intracellular retention and lack of function N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
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
Green-sensitive opsin (RH2)
Color vision
Gene Loss,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002354
opn1mw1
Q9W6A5
Physiology
Rh2-1 coding sequence absent from the full genome sequence of the three Sinocyclocheilus species N
Danio rerio
zebrafish - (species)
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Green-sensitive opsin (RH2)
Sinocyclocheilus anshuiensis
(species)
Sinocyclocheilus grahami
(species)
Sinocyclocheilus rhinocerous
(species)
Published - Accepted by Curator
Green-sensitive opsin (RH2)
Color vision
Gene Loss,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002355
opn1mw4
Q9W6A6
Physiology
Rh2-4 coding sequence absent from the full genome sequence of S. anshuiensis but present in the genome of Sinocyclocheilus rhinocerous and S. grahami N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
Green-sensitive opsin (RH2)
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
Green-sensitive opsin (RH2)
Color vision
Gene Loss,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002356
opn1mw2
Q8AYM8
Physiology
Rh2-2 coding sequence absent from the full genome sequence of the three Sinocyclocheilus species N
Danio rerio
zebrafish - (species)
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Green-sensitive opsin (RH2)
Sinocyclocheilus anshuiensis
(species)
Sinocyclocheilus grahami
(species)
Sinocyclocheilus rhinocerous
(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 (dwarfism)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Agarwal SK; Cogburn LA; Burnside J (1994)
Dysfunctional growth hormone receptor in a strain of sex-linked dwarf chicken: evidence for a mutati[...]
GP00002189
GHR
P10912
Morphology
deletion of 1773 bp in the 3' end of the coding region N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Growth Hormone Receptor (GHR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
GS3
Grain size
Coding,
SNP
N
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Fan C; Xing Y; Mao H ; et al. (2006)
GS3, a major QTL for grain length and weight and minor QTL for grain width and thickness in rice, en[...]
1 Additional References
GP00000417
GS3
C6L686
Morphology
C55*;TGC>TGA causing a 178-aa truncation in the C-terminus of the predicted protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GS3
Oryza sativa
rice - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Cavia porcellus
domestic guinea pig - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000420
Gulo
P58710
Physiology
pseudogenization involving invalidating mutations at most exons N
Mammalia
mammals - (class)
Cavia porcellus
domestic guinea pig - (species)
Gulo
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Myotis lucifugus
little brown bat - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000421
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Myotis lucifugus
little brown bat - (species)
Gulo
Myotis lucifugus
little brown bat - (species)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Primates
(order)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000422
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Primates
(order)
Gulo
Primates
(order)
Published - Accepted by Curator
Gulo
Vitamin-C synthesis (loss)
Coding,
Complex Change
N
Pteropus vampyrus
large flying fox - (species)
Intergeneric or Higher
Association Mapping
Hiller M; Schaar BT; Indjeian VB ; et al. (2012)
A "forward genomics" approach links genotype to phenotype using independent phenotypic losses among [...]
GP00000423
Gulo
P58710
Physiology
pseudogenization N
Mammalia
mammals - (class)
Pteropus vampyrus
large flying fox - (species)
Gulo
Pteropus vampyrus
large flying fox - (species)
Published - Accepted by Curator
GW2
Grain size
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Song XJ; Huang W; Shi M ; et al. (2007)
A QTL for rice grain width and weight encodes a previously unknown RING-type E3 ubiquitin ligase.
GP00000424
GW2
A4GWX9
Morphology
1bp deletion resulting in a premature stop codon in exon 4; the premature stop codon led to truncation of 310 amino acid residues N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
GW2
Oryza sativa
rice - (species)
Published - Accepted by Curator
GW2
Grain size
Coding,
Insertion
N
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Yang Z; Bai Z; Li X ; et al. (2012)
SNP identification and allelic-specific PCR markers development for TaGW2, a gene linked to wheat ke[...]
GP00000425
GW2
A4GWX9
Morphology
1bp insertion resulting in premature stop codon N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
GW2
Triticum aestivum
bread wheat - (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
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Deletion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Xu X; Yu L; Wu Y (2005)
Disruption of a cadherin gene associated with resistance to Cry1Ac {delta}-endotoxin of Bacillus thu[...]
2 Additional References
GP00000427
ABCA2
A0A0S0G7V0
Physiology
10kb deletion N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Yang Y; Chen H; Wu S ; et al. (2006)
Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]
1 Additional References
GP00000428
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Yang Y; Chen H; Wu S ; et al. (2006)
Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]
1 Additional References
GP00000429
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000430
ABCA2
A0A0S0G7V0
Physiology
Insertion of an incomplete RNA transposon (1498bp) N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000431
ABCA2
A0A0S0G7V0
Physiology
Insertion of a DNA transposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000432
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000433
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
HAC1 (=ATQ1)
Xenobiotic resistance (soil contamination; arsenate)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Chen Y; Chen J ; et al. (2014)
Genome-wide association mapping identifies a new arsenate reductase enzyme critical for limiting ars[...]
GP00000435
HAC1
Q9C5X9
Physiology
1bp deletion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HAC1 (=ATQ1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
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-[...]
GP00000439
HD1
Q9FDX8
Physiology
Retro-element-like inserted in exon 2 N
Oryza glaberrima
African rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Yano M; Katayose Y; Ashikari M ; et al. (2000)
Hd1, a major photoperiod sensitivity quantitative trait locus in rice, is closely related to the Ara[...]
1 Additional References
GP00000441
HD1
Q9FDX8
Physiology
2bp deletion in the putative exon 2 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
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[...]
GP00001722
HD1
Q9FDX8
Physiology
1bp deletion at position 606 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
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[...]
GP00001723
HD1
Q9FDX8
Physiology
1bp deletion at position 321 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Deletion
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[...]
GP00001724
HD1
Q9FDX8
Physiology
4bp deletion at position 1089 ; presumptive protein truncated N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (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
Flowering time (latitudinal adaptation)
Cis-regulatory,
Insertion
N
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Candidate Gene
Goretti D; Martignago D; Landini M ; et al. (2017)
Transcriptional and Post-transcriptional Mechanisms Limit Heading Date 1 (Hd1) Function to Adapt Ric[...]
GP00001674
HD1
Q9FDX8
Physiology
Hd1(EH) allele with a 4.4 kb mobile element inserted at position -166pb that suppressed gene transcription N
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
HEADING DATE 1
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
Deletion
N
Sorghum virgatum
(species) D
Domesticated
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001408
CO
Q39057
Physiology
5bp deletion in the coding sequence leading to gene frameshift N
Sorghum bicolor
sorghum - (species)
Sorghum virgatum
(species) D
Heading Date 1 (HD1)
Sorghum virgatum
(species)
Published - Accepted by Curator
Heading Date 1 (HD1)
Flowering time
Coding,
Deletion
N
Sorghum
(genus) D
Interspecific
Association Mapping
Liu H; Liu H; Zhou L ; et al. (2015)
Parallel Domestication of the Heading Date 1 Gene in Cereals.
GP00001409
CO
Q39057
Physiology
80bp deletion in first exon leading to gene frameshift N
Sorghum
(genus)
Sorghum
(genus) D
Heading Date 1 (HD1)
Sorghum
(genus)
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
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Chao DY; Silva A; Baxter I ; et al. (2012)
Genome-wide association studies identify heavy metal ATPase3 as the primary determinant of natural v[...]
GP00000444
HMA3
P0CW78
Physiology
1-bp deletion resulting in a premature stop codon resulting in hypofunctional transporter. This is a high-frequency allele; suggesting the hyper-functional alleles are only selected in Cd-rich soils N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
heavy metal atpase3 (HMA3)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HM1 = HC toxin reductase (HCTR) [possible pseudo-replicate from other Maize entry]
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Johal GS; Briggs SP (1992)
Reductase activity encoded by the HM1 disease resistance gene in maize.
1 Additional References
GP00000481
hm1
O49163
Physiology
256-bp transposable element insertion in exon 4 N
Zea mays
(species)
Zea mays
(species) D
HM1 = HC toxin reductase (HCTR) [possible pseudo-replicate from other Maize entry]
Zea mays
(species)
Published - Accepted by Curator
HM2 = HC toxin reductase (HCTR)
Pathogen resistance
Coding,
Deletion
N
Zea mays
(species) D
Domesticated
Candidate Gene
Chintamanani S; Multani DS; Ruess H ; et al. (2008)
Distinct mechanisms govern the dosage-dependent and developmentally regulated resistance conferred b[...]
GP00000482
hm2
B8QWA3
Physiology
deletion from exon 2 (nucleotide 420) to beyond the confines of the hm2 gene into an unknown genomic region. N
Zea mays
(species)
Zea mays
(species) D
HM2 = HC toxin reductase (HCTR)
Zea mays
(species)
Published - Accepted by Curator
HM2 = HC toxin reductase (HCTR)
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Candidate Gene
Chintamanani S; Multani DS; Ruess H ; et al. (2008)
Distinct mechanisms govern the dosage-dependent and developmentally regulated resistance conferred b[...]
GP00000483
hm2
B8QWA3
Physiology
8-bp insertion in exon 1 that disrupt the reading frame and introduces a stop codon shortly after the beginning of the gene N
Zea mays
(species)
Zea mays
(species) D
HM2 = HC toxin reductase (HCTR)
Zea mays
(species)
Published - Accepted by Curator
HMGA2
Body size (dwarfism)
Cranio-facial morphology
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Association Mapping
Carneiro M; Hu D; Archer J ; et al. (2017)
Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA[...]
GP00001675
HMGA2
P52926
Morphology
Morphology
deletion of 12.1 kb overlapping the promoter region and first three exons leading to inactivation of the gene. The 5'-end of this deletion overlaps a CSINE2 element N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
HMGA2
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
Hox gene cluster
Body plan (number of segments)
Gene Loss,
Deletion
N
Hypsibius dujardini
(species) D
Paramacrobiotus richtersi
(species) D
Milnesium tardigradum
(species) D
Intergeneric or Higher
Candidate Gene
Smith FW; Boothby TC; Giovannini I ; et al. (2016)
The Compact Body Plan of Tardigrades Evolved by the Loss of a Large Body Region.
GP00001946
Antp
P02833
Morphology
The three genes Antp Ubx AbdA are missing in the genome sequences of the three tardigrades. This loss is ancient so difficult to evaluate whether the three genes were lost due to a single mutational event or due to successive mutations. The Hox cluster is disorganized in the H. dujardini genome. N
Drosophila melanogaster
fruit fly - (species)
Hypsibius dujardini
(species) D
Paramacrobiotus richtersi
(species) D
Milnesium tardigradum
(species) D
Hox gene cluster
Hypsibius dujardini
(species)
Paramacrobiotus richtersi
(species)
Milnesium tardigradum
(species)
Published - Accepted by Curator
HP1D2
Sex determination (sex ratio distortion)
Coding,
Deletion
N
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Helleu Q; Gérard PR; Dubruille R ; et al. (2016)
Rapid evolution of a Y-chromosome heterochromatin protein underlies sex chromosome meiotic drive.
GP00001467
HP1D2
B4R6K0
Physiology
deletion of 371bp that removes one-half (371bp) of the HP1D2 coding sequence resulting in a frameshift that prevents the translation of the C-terminal chromo shadow domain (CSD) mediating protein N
Drosophila simulans
(species)
Drosophila simulans
(species) D
HP1D2
Drosophila simulans
(species)
Published - Accepted by Curator
Hps4
Coloration (albinism)
Coding,
Deletion
N
Ictalurus punctatus
channel catfish - (species) D
Intraspecific
Association Mapping
Li Y; Geng X; Bao L ; et al. (2017)
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in [...]
GP00002122
Hps4
Q99KG7
Morphology
A 99‐bp deletion was identified spanning intron 2 and exon 3 junction of the Hps4 gene N
Ictalurus punctatus
channel catfish - (species)
Ictalurus punctatus
channel catfish - (species) D
Hps4
Ictalurus punctatus
channel catfish - (species)
Published - Accepted by Curator
Hs1 = pro-1
Pathogen resistance (parasite, nematodes) (nematodes)
Gene Loss,
Complex Change
N
Beta vulgaris
(species)
Domesticated
Linkage Mapping
Cai D; Kleine M; Kifle S ; et al. (1997)
Positional cloning of a gene for nematode resistance in sugar beet.
GP00000490
HSPRO1
Q9LY61
Physiology
cDNA sequence lacking in genomic DNA N
Patellifolia
(genus)
Beta vulgaris
(species)
Hs1 = pro-1
Beta vulgaris
(species)
Published - Accepted by Curator
HUA2
Flowering time
Shoot morphology
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Wang Q; Sajja U; Rosloski S ; et al. (2007)
HUA2 caused natural variation in shoot morphology of A. thaliana.
GP00000491
HUA2
Q9XER9
Physiology
Morphology
K525E N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
HUA2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HUA2
Flowering time
Coloration (temperature-dependent)
Coding,
Unknown
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Ilk N; Ding J; Ihnatowicz A ; et al. (2015)
Natural variation for anthocyanin accumulation under high-light and low-temperature stress is attrib[...]
1 Additional References
GP00001230
HUA2
Q9XER9
Physiology
Morphology
Premature stop codon resulting in truncation of 290 C-terminal amino-acids (hua-2-5 Ler allele) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
HUA2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
HvbHLH1
Coloration
Coding,
Deletion
N
Hordeum vulgare
(species) D
Domesticated
Association Mapping
Cockram J; White J; Zuluaga DL ; et al. (2010)
Genome-wide association mapping to candidate polymorphism resolution in the unsequenced barley genom[...]
GP00000493
bHLH1
E5FCX3
Morphology
16bp deletion resulting in premature stop codon N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
HvbHLH1
Hordeum vulgare
(species)
Published - Accepted by Curator
ICARUS1
Plant growth (leaf morphology ; temperature-dependent)
Hypersensitive to DNA damage
2 Mutations:
Coding
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Zhu W; Ausin I; Seleznev A ; et al. (2015)
Natural Variation Identifies ICARUS1, a Universal Gene Required for Cell Proliferation and Growth at[...]
GP00002066
ICA1
A0A0F7PXK5
Physiology
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
ICARUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Indian hedgehog (IHH)
Limb size (legs)
Gene Loss,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Jin S; Zhu F; Wang Y ; et al. (2016)
Deletion of Indian hedgehog gene causes dominant semi-lethal Creeper trait in chicken.
GP00002194
IHH
Q98938
Morphology
11,896 bp large deletion region (chr7: 21,798,705-21,810,600) covering the entire Indian hedgehog (IHH) gene N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Indian hedgehog (IHH)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
KCS18
Oil composition
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Jasinski S; Lécureuil A; Miquel M ; et al. (2012)
Natural variation in seed very long chain fatty acid content is controlled by a new isoform of KCS18[...]
GP00000512
FAE1
Q38860
Physiology
L407V N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
KCS18
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Kit
Coloration (coat ; white-spotting)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Wong AK; Ruhe AL; Robertson KR ; et al. (2013)
A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs.
GP00002228
Kit
P05532
Morphology
a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2 resulting in frameshift N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Kit
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
N
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00000516
Kit
P05532
Morphology
c.2151C>G pY717* N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
SNP
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Schlumbaum A ; et al. (2007)
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
GP00002198
Kit
P05532
Morphology
c.706A>T p.K236* N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002202
Kit
P05532
Morphology
c.1126_1129delGAAC p.E376FfsX3 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Brooks SA; Tozaki T ; et al. (2009)
Seven novel KIT mutations in horses with white coat colour phenotypes.
GP00002205
Kit
P05532
Morphology
c.2193delG p.T732QfsX9 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Rieder S; Tozaki T ; et al. (2011)
Five novel KIT mutations in horses with white coat colour phenotypes.
GP00002212
Kit
P05532
Morphology
c.2392_2445del p.H798_N815del N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Haase B; Jagannathan V; Rieder S ; et al. (2015)
A novel KIT variant in an Icelandic horse with white-spotted coat colour.
GP00002216
Kit
P05532
Morphology
c.2369delC p.Ala790Glufs*20 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Dürig N; Jude R; Holl H ; et al. (2017)
Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotte[...]
GP00002219
Kit
P05532
Morphology
g.77;740;239_77;742;136del1898insTATAT ~1.9-kb deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hug P; Jude R; Henkel J ; et al. (2019)
A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.
GP00002223
Kit
P05532
Morphology
g.79;579;925-79;581;197del 1273bp deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat ; white-spotting)
Coding,
Deletion
N
Camelus dromedarius
Arabian camel - (species) D
Domesticated
Candidate Gene
Holl H; Isaza R; Mohamoud Y ; et al. (2017)
A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel.
GP00002229
Kit
P05532
Morphology
c.1842delG p.M614IfsX5 N
Camelus dromedarius
Arabian camel - (species)
Camelus dromedarius
Arabian camel - (species) D
Kit (type III receptor protein-tyrosine kinase)
Camelus dromedarius
Arabian camel - (species)
Published - Accepted by Curator
Kit ligand
Coloration (coat)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Seitz JJ; Schmutz SM; Thue TD ; et al. (1999)
A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and[...]
1 Additional References
GP00000101
KITLG
P21583
Morphology
Ala193Asp ; missense mutation at position 654 - according to OMIA: c.572C>A p.A191N N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Kit ligand
Bos taurus
cattle - (species)
Published - Accepted by Curator
KRT71
Hair type (curly and hairless)
Coding,
Deletion
N
Rattus norvegicus
Norway rat - (species) D
Domesticated
Linkage Mapping
Kuramoto T; Hirano R; Kuwamura M ; et al. (2010)
Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gen[...]
GP00001729
Krt71
Q9R0H5
Morphology
a 7-bp deletion at the splicing acceptor site of intron 1. The deletion provoked a 6-amino acid in-frame deletion (p.Val149_Gln154del) in the alpha-helical rod domain of KRT71 protein N
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species) D
KRT71
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
KRT71
Hair type (curly and hairless)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010)
The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.
GP00001730
Krt71
Q9R0H5
Morphology
eight base pair deletion mutation in exon one of the keratin 71 (KRT71) c.334delTGTGCCCA p.Met93AsnfsX14 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
KRT71
Bos taurus
cattle - (species)
Published - Accepted by Curator
KRT71
Hair type (curly)
Coding,
SNP
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Gandolfi B; Alhaddad H; Joslin SE ; et al. (2013)
A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.
GP00002232
Krt71
Q9R0H5
Morphology
c.445-1G>C in splice site likely disrupts the highly conserved acceptor splicing site of intron one. Sequence of the complete RNA transcript revealed that an alternative downstream acceptor was employed N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
KRT71
Felis catus
domestic cat - (species)
Published - Accepted by Curator
L6
Pathogen resistance
Coding,
Insertion
N
Linum usitatissimum
flax - (species)
Intraspecific
Linkage Mapping
Lawrence GJ; Finnegan EJ; Ayliffe MA ; et al. (1995)
The L6 gene for flax rust resistance is related to the Arabidopsis bacterial resistance gene RPS2 an[...]
GP00000528
L6
Q40253
Physiology
Truncated protein due to insertion of a transposable element. Reversion to resistance among descendants of mutant X75 was associated with excision of the newly transposable element Ac. N
Linum usitatissimum
flax - (species)
Linum usitatissimum
flax - (species)
L6
Linum usitatissimum
flax - (species)
Published - Accepted by Curator
lanosterol c14 demethylase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species) D
Intergeneric or Higher
Candidate Gene
Vinci G; Xia X; Veitia RA (2008)
Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.
GP00001951
CYP51A1
Q16850
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Caenorhabditis elegans
(species) D
lanosterol c14 demethylase
Caenorhabditis elegans
(species)
Published - Accepted by Curator
lanosterol c14 demethylase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intergeneric or Higher
Candidate Gene
Vinci G; Xia X; Veitia RA (2008)
Preservation of genes involved in sterol metabolism in cholesterol auxotrophs: facts and hypotheses.
GP00001952
CYP51A1
Q16850
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Drosophila melanogaster
fruit fly - (species) D
lanosterol c14 demethylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
lanosterol synthase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intergeneric or Higher
Candidate Gene
Kurzchalia TV; Ward S (2003)
Why do worms need cholesterol?
1 Additional References
GP00001949
LSS
P48449
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Drosophila melanogaster
fruit fly - (species) D
lanosterol synthase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
lanosterol synthase
Cholesterol metabolism (cholesterol biosynthesis)
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species) D
Intergeneric or Higher
Candidate Gene
Kurzchalia TV; Ward S (2003)
Why do worms need cholesterol?
1 Additional References
GP00001950
LSS
P48449
Physiology
gene absent in the genome N
Homo sapiens
human - (species)
Caenorhabditis elegans
(species) D
lanosterol synthase
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Ldia2 - Diaphanous-related formin
Shell chirality (coiling)
Coding,
Deletion
N
Lymnaea stagnalis
great pond snail - (species) D
Intraspecific
Association Mapping
Davison A; McDowell GS; Holden JM ; et al. (2016)
Formin Is Associated with Left-Right Asymmetry in the Pond Snail and the Frog.
GP00000538
DIAPH1
O60610
Morphology
1bp deletion resulting in frame-shift (pseudogenization) N
Lymnaea stagnalis
great pond snail - (species)
Lymnaea stagnalis
great pond snail - (species) D
Ldia2 - Diaphanous-related formin
Lymnaea stagnalis
great pond snail - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002656
lectin-24A
Q9VQU4
Physiology
a 165bp deletion in the protein coding sequence that results in a shift in the reading frame and a premature stop codon (p.Phe217_Glu273del*) N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
SNP
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002657
Physiology
L81 >STOP - point mutation that introduces a premature stop codon N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
SNP
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002658
lectin-24A
Q9VQU4
Physiology
Q254 >STOP - point mutation that introduces a premature stop codon N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Coding,
SNP
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002659
lectin-24A
Q9VQU4
Physiology
F217 >STOP - point mutation that introduces a premature stop codon N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
LEU2
Xenobiotic resistance
Gene Loss,
Complex Change
N
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Perlstein EO; Ruderfer DM; Roberts DC ; et al. (2007)
Genetic basis of individual differences in the response to small-molecule drugs in yeast.
GP00000542
LEU2
P04173
Physiology
Deletion N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
LEU2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
LIMONENE-MYRCENE SYNTHASE (LMS)
Fragrance (floral terpenoid volatiles; D -limonene and beta-myrcene)
Coding,
SNP
N
Erythranthe cardinalis
(species) D
Interspecific
Linkage Mapping
Byers KJ; Vela JP; Peng F ; et al. (2014)
Floral volatile alleles can contribute to pollinator-mediated reproductive isolation in monkeyflower[...]
GP00001761
LMS
W6A2K5
Physiology
G66T transversion mutation in exon 3 of McLMS (KM659024) that results in a nonsense mutation in the McLMS protein (G201X) N
Erythranthe lewisii
(species)
Erythranthe cardinalis
(species) D
LIMONENE-MYRCENE SYNTHASE (LMS)
Erythranthe cardinalis
(species)
Published - Accepted by Curator
Linamarase
Toxicity levels (cyanogenic glucoside)
Gene Loss,
Deletion
N
Trifolium repens
white clover - (species) D
Intraspecific
Linkage Mapping
Olsen KM; Hsu SC; Small LL (2008)
Evidence on the molecular basis of the Ac/ac adaptive cyanogenesis polymorphism in white clover (Tri[...]
1 Additional References
GP00000549
LI
P26205
Physiology
Gene deletion N
Trifolium repens
white clover - (species)
Trifolium repens
white clover - (species) D
Linamarase
Trifolium repens
white clover - (species)
Published - Accepted by Curator
LIPH
Hair length
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Linkage Mapping
Diribarne M; Mata X; Chantry-Darmon C ; et al. (2011)
A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Ory[...]
GP00000550
Liph
Q8CIV3
Morphology
1bp deletion resulting in frameshift N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
LIPH
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
Low-density lipoprotein receptor-related protein 2
Organ size (eye; enlarged)
3 Mutations:
Coding
N
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002349
LRP2
P98164
Morphology
3 mutations
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Low-density lipoprotein receptor-related protein 2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Lysine histidine transporter 1
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Zhao Y; Lu X; Liu C ; et al. (2012)
Identification and fine mapping of rhm1 locus for resistance to Southern corn leaf blight in maize.
GP00000555
LHT1
Q9FKS8
Physiology
354bp insertioin resulting in premature stop codon N
Zea mays
(species)
Zea mays
(species) D
Lysine histidine transporter 1
Zea mays
(species)
Published - Accepted by Curator
mab-23
Male genitalia
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Lints R; Emmons SW (2002)
Regulation of sex-specific differentiation and mating behavior in C. elegans by a new member of the [...]
1 Additional References
GP00001323
mab-23
G5ECK3
Morphology
TGC>TTC - cysteine of the DM motif transformed into phenylalanine; so is likely to disrupt DNA-binding function N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
mab-23
Caenorhabditis elegans
(species)
Published - Accepted by Curator
MC1R
Coloration (albinism)
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Gross JB; Borowsky R; Tabin CJ (2009)
A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]
GP00000567
MC1R
Q01726
Morphology
2bp deletion resulting in frameshift N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
MC1R
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Klungland H; Våge DI; Gomez-Raya L ; et al. (1995)
The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.
1 Additional References
GP00000571
MC1R
Q01726
Morphology
1 bp deletion at 104: frameshift and premature stop at amino acid 156 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MC1R
Bos taurus
cattle - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Gene Loss,
Complex Change
N
Cavia porcellus
domestic guinea pig - (species) D
Domesticated
Candidate Gene
Cone RD; Lu D; Koppula S ; et al. (1996)
The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation.
GP00000575
MC1R
Q01726
Morphology
Deletion of part or all of gene N
Cavia porcellus
domestic guinea pig - (species)
Cavia porcellus
domestic guinea pig - (species) D
MC1R
Cavia porcellus
domestic guinea pig - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
N
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Robbins LS; Nadeau JH; Johnson KR ; et al. (1993)
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]
GP00000582
MC1R
Q01726
Morphology
1bp deletion at 183; frameshift & premature stop N
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
MC1R
Mus musculus
house mouse - (species)
Published - Accepted by Curator
MC1R
Coloration (skin)
Coding,
Insertion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Kijas JM; Moller M; Plastow G ; et al. (2001)
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pig[...]
1 Additional References
GP00000631
MC1R
Q01726
Morphology
2bp insertion at 23 generates early stop @ 56 & D"121"N ? N
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
N
Bos grunniens
domestic yak - (species) D
Domesticated
Candidate Gene
Zhang MQ; Xu X; Luo SJ (2014)
The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).
GP00001354
Mc1r
Q01727
Morphology
p.Gln34* and p.Met73Leu and p.Arg142Pro - p.Met73Leu and p.Arg142Pro were only found in heterozygous and their association with phenotype is supposed but not sure N
Bos grunniens
domestic yak - (species)
Bos grunniens
domestic yak - (species) D
MC1R
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
MC1R
Coloration (feathers)
2 Mutations:
Coding
SNP
Meleagris gallopavo mexicana
(subspecies) D
Domesticated
Candidate Gene
Vidal O; Viñas J; Pla C (2010)
Variability of the melanocortin 1 receptor (MC1R) gene explains the segregation of the bronze locus [...]
GP00002300
MC1R
Q01726
Morphology
2 mutations
Meleagris gallopavo mexicana
(subspecies)
Meleagris gallopavo mexicana
(subspecies) D
MC1R
Meleagris gallopavo mexicana
(subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dürig N; Letko A; Lepori V ; et al. (2018)
Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.
GP00002301
MC1R
Q01726
Morphology
2-bp deletion in the coding sequence c.816_817delCT N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dreger DL; Schmutz SM (2010 Sep-Oct)
A new mutation in MC1R explains a coat color phenotype in 2 "old" breeds: Saluki and Afghan hound.
GP00002303
MC1R
Q01726
Morphology
c.233G>T p.G78V N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Li W; Sartelet A; Tamma N ; et al. (2016)
Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melan[...]
GP00000642
Mlph
Q91V27
Morphology
10bp deletion in exon1 ; c.87_96del p.Glu32Aspfs*1 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Melanophilin (MLPH)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Felis catus
domestic cat - (species) D
Domesticated
Linkage Mapping
Ishida Y; David VA; Eizirik E ; et al. (2006)
A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat[...]
GP00000644
Mlph
Q91V27
Morphology
1bp deletion resulting in frameshift c.83delT N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Melanophilin (MLPH)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Christensen K ; et al. (2013)
New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink.
GP00000646
Mlph
Q91V27
Morphology
deletion including intron 7 and exon 8 N
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
Melanophilin (MLPH)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus
(genus) D
Domesticated
Candidate Gene
Fontanesi L; Scotti E; Allain D ; et al. (2014)
A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus [...]
GP00000648
Mlph
Q91V27
Morphology
1bp deletion resulting in frameshift N
Oryctolagus
(genus)
Oryctolagus
(genus) D
Melanophilin (MLPH)
Oryctolagus
(genus)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Van Buren SL; Minor KM; Grahn RA ; et al. (2020)
A Third MLPH Variant Causing Coat Color Dilution in Dogs.
GP00002331
Mlph
Q91V27
Morphology
c.667_668insC p.(His223Profs*41) N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Deletion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Lehner S; Gähle M; Dierks C ; et al. (2013)
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
GP00002332
Mlph
Q91V27
Morphology
c.585delG p.L195LfsX123* N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Melanophilin (MLPH)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
Insertion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Tanaka J; Leeb T; Rushton J ; et al. (2019)
Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.
GP00002243
MFSD12
Q6NUT3
Morphology
p.(Asp201fs) due to c.600Cins N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
MFSD12
Equus caballus
horse - (species)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Hédan B; Cadieu E; Botherel N ; et al. (2019)
Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White[...]
GP00002244
MFSD12
Q6NUT3
Morphology
c.151C>T p.Arg51Cys N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
MFSD12
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MFSD12
Coloration (skin)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Adhikari K; Mendoza-Revilla J; Sohail A ; et al. (2019)
A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasi[...]
1 Additional References
GP00002245
MFSD12
Q6NUT3
Morphology
Y182H N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MFSD12
Homo sapiens
human - (species)
Published - Accepted by Curator
MFSD12
Coloration (skin)
Cis-regulatory,
Complex Change
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Crawford NG; Kelly DE; Hansen MEB ; et al. (2017)
Loci associated with skin pigmentation identified in African populations.
GP00002246
MFSD12
Q6NUT3
Morphology
eight potentially causal SNPs cluster in two regions: one within MFSD12 (intronic SNP and synonymous SNP in exon 9) and the other ~7600 to 9000 base pairs (bp) upstream of MFSD12 ; many SNPs are in predicted regulatory regions active in melanocytes and/or keratinocytes show enhancer activity in luciferase expression assays N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MFSD12
Homo sapiens
human - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (feathers)
Coding,
Deletion
N
Coturnix japonica
Japanese quail - (species) D
Domesticated
Candidate Gene
Minvielle F; Bed'hom B; Coville JL ; et al. (2010)
The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with [...]
1 Additional References
GP00000660
Mitf
Q08874
Morphology
2bp deletion N
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Microphtalmia-associated transcription factor
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00002322
Mitf
Q08874
Morphology
c.519_523delGTGTC p.C174Sfs*20 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Henkel J; Lafayette C; Brooks SA ; et al. (2019)
Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat [...]
GP00002324
Mitf
Q08874
Morphology
~63-kb deletion spanning exons 6-9 N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
Deletion
N
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Magdesian KG; Tanaka J; Bellone RR (2020)
A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse.
GP00002325
Mitf
Q08874
Morphology
8.7 kb deletion N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
N
Bubalus bubalis
water buffalo - (species) D
Domesticated
Candidate Gene
Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015)
Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]
GP00002327
Mitf
Q08874
Morphology
c.328C>T p.R110* N
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Microphtalmia-associated transcription factor
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Coding,
SNP
N
Bubalus bubalis
water buffalo - (species) D
Domesticated
Candidate Gene
Yusnizar Y; Wilbe M; Herlino AO ; et al. (2015)
Microphthalmia-associated transcription factor mutations are associated with white-spotted coat colo[...]
GP00002328
Mitf
Q08874
Morphology
donor splice-site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of MITF N
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Microphtalmia-associated transcription factor
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
miR-15a-16
Body size (weight)
Cis-regulatory,
Insertion
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Jia X; Lin H; Nie Q ; et al. (2016)
A short insertion mutation disrupts genesis of miR-16 and causes increased body weight in domesticat[...]
GP00002247
Morphology
54-bp insertion introducing splicing site that affect the mature transcript N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
miR-15a-16
Gallus gallus
chicken - (species)
Published - Accepted by Curator
MLO1
Pathogen resistance
Coding,
SNP
N
Pisum sativum
pea - (species)
Domesticated
Linkage Mapping
Pavan S; Schiavulli A; Appiano M ; et al. (2011)
Pea powdery mildew er1 resistance is associated to loss-of-function mutations at a MLO homologous lo[...]
GP00000673
MLO
P93766
Physiology
1bp substitution resulting in premature stop codon N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species)
MLO1
Pisum sativum
pea - (species)
Published - Accepted by Curator
MLO1
Pathogen resistance
Coding,
Deletion
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Bai Y; Pavan S; Zheng Z ; et al. (2008)
Naturally occurring broad-spectrum powdery mildew resistance in a Central American tomato accession [...]
GP00000674
MLO
P93766
Physiology
19bp deletion resulting in frameshift N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
MLO1
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Mpv17
Coloration (albinism; iridophores)
Coding,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002358
mpv17
Q5TZ51
Morphology; Physiology
Deletion which removes 16 amino acids in a conserved region. The Mpv17 mutant in zebrafish displays a strong reduction of iridophores throughout larval and adult stages. N
Sinocyclocheilus grahami
(species)
Sinocyclocheilus anshuiensis
(species) D
Mpv17
Sinocyclocheilus anshuiensis
(species)
Published - Accepted by Curator
MRC2
Muscular mass
Tail shape (crooked ; defect)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Fasquelle C; Sartelet A; Li W ; et al. (2009)
Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...]
2 Additional References
GP00002264
MRC2
Q9UBG0
Physiology
Morphology
c.2904-2905delAG p.Gly934X N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
MRC2
Bos taurus
cattle - (species)
Published - Accepted by Curator
MTH1
Low-glucose adaptation (experimental evolution)
Coding,
SNP
N
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
GP00000679
CUP1-1
P0CX80
Physiology
1bp substitution resulting in premature stop codon N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MTH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
MTH1
Low-glucose adaptation (experimental evolution)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000680
CUP1-1
P0CX80
Physiology
Ty retrotranposition resulting in a coding frameshift N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MTH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Macquet A; Ralet MC; Loudet O ; et al. (2007)
A naturally occurring mutation in an Arabidopsis accession affects a beta-D-galactosidase that incre[...]
GP00000681
BGAL6
Q9FFN4
Physiology
44bp deletion in exon 15; from Leu-662 onwards. This deletion causes a frame-shift mutation changing the next 23 amino acids followed by the introduction of a stop codon. N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001274
BGAL6
Q9FFN4
Physiology
C->T @position 2223 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001275
BGAL6
Q9FFN4
Physiology
G->C @position 2240 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001276
BGAL6
Q9FFN4
Physiology
G->T @position 3425 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001277
BGAL6
Q9FFN4
Physiology
TACA insertion @position 4906 causing frame shift + Stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MYB-FL
Coloration (flower ; UV absorbance)
Coding,
Deletion
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Sheehan H; Moser M; Klahre U ; et al. (2016)
MYB-FL controls gain and loss of floral UV absorbance, a key trait affecting pollinator preference a[...]
GP00001590
MYB-FL
A0A0S3CVC7
Morphology
A 1-bp deletion in exon 3 causing a frameshift resulting in a truncated protein N
Petunia axillaris
(species)
Petunia exserta
(species) D
MYB-FL
Petunia exserta
(species)
Published - Accepted by Curator
MYB1
Coloration (flower)
Coding,
Deletion
N
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Chang SM; Lu Y; Rausher MD (2005)
Neutral evolution of the nonbinding region of the anthocyanin regulatory gene Ipmyb1 in Ipomoea.
GP00001458
myb1
Q4QS21
Morphology
2 deletions; 6-bp and 19-bp long; the larger produces a frameshift and a premature stop N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
MYB1
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
MYB1
Coloration (flowers; seeds; stems)
Coding,
Deletion
N
Ipomoea nil
Japanese morning glory - (species) D
Domesticated
Candidate Gene
Morita Y; Saitoh M; Hoshino A ; et al. (2006)
Isolation of cDNAs for R2R3-MYB, bHLH and WDR transcriptional regulators and identification of c and[...]
GP00002089
myb1
Q4QS21
Morphology
frameshift mutation caused by a 2 bp deletion N
Ipomoea nil
Japanese morning glory - (species)
Ipomoea nil
Japanese morning glory - (species) D
MYB1
Ipomoea nil
Japanese morning glory - (species)
Published - Accepted by Curator
myosin heavy chain 16 (MYH16)
Masticatory muscles
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intergeneric or Higher
Candidate Gene
Stedman HH; Kozyak BW; Nelson A ; et al. (2004)
Myosin gene mutation correlates with anatomical changes in the human lineage.
GP00000683
MYH16
Q9H6N6
Morphology
2bp deletion at codon 660 N
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
myosin heavy chain 16 (MYH16)
Homo sapiens
human - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Deletion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Grobet L; Martin LJ; Poncelet D ; et al. (1997)
A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle.
2 Additional References
GP00000685
MSTN
O14793
Morphology
nt821 11bp deletion c.821-831delTGAACACTCCA p.Glu275ArgfsX14 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Indel
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000686
MSTN
O14793
Morphology
nt419 7bp deletion and 10bp insertion; leading to a premature stop codon at position 140 c.419_425del7, c418_426ins10 N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000687
MSTN
O14793
Morphology
c.610C>T p.Q204* N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Grobet L; Poncelet D; Royo LJ ; et al. (1998)
Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]
GP00000688
MSTN
O14793
Morphology
E226* caused by G676T N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Marchitelli C; Savarese MC; Crisà A ; et al. (2003)
Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin g[...]
GP00000690
MSTN
O14793
Morphology
E291* caused by G>T N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Myostatin (MSTN = GDF8)
Bos taurus
cattle - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Boman IA; Klemetsdal G; Blichfeldt T ; et al. (2009)
A frameshift mutation in the coding region of the myostatin gene (MSTN) affects carcass conformation[...]
GP00000693
MSTN
O14793
Morphology
1bp deletion resulting in a premature stop codon at position 320 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Insertion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Boman IA; Våge DI (2009)
An insertion in the coding region of the myostatin (MSTN) gene affects carcass conformation and fatn[...]
GP00000694
MSTN
O14793
Morphology
1bp insertion resulting in premature stop codon at position 49 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Racing performance
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Mosher DS; Quignon P; Bustamante CD ; et al. (2007)
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygo[...]
GP00000697
MSTN
O14793
Morphology; Physiology
2bp deletion in the third exon c.939_940delTG p.C313* N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Myostatin (MSTN = GDF8)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Unknown
N
Bactrocera dorsalis
oriental fruit fly - (species) D
Intraspecific
Candidate Gene
Hsu JC; Feng HT; Wu WJ ; et al. (2012)
Truncated transcripts of nicotinic acetylcholine subunit gene Bdα6 are associated with spinosad resi[...]
GP00002650
CHRNA6
Q15825
Physiology
Mutation in Bdα6 intron 2 (A change to T) just before the truncated/mis-splicing region and in same location with a mutation previously reported in the Pxylα6 gene. Small deletions and insertions leading to premature stop codons in exon 7. N
Bactrocera dorsalis
oriental fruit fly - (species)
Bactrocera dorsalis
oriental fruit fly - (species) D
nAChR
Bactrocera dorsalis
oriental fruit fly - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
SNP
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Linkage Mapping
Baxter SW; Chen M; Dawson A ; et al. (2010)
Mis-spliced transcripts of nicotinic acetylcholine receptor alpha6 are associated with field evolved[...]
GP00002651
CHRNA6
Q15825
Physiology
A mutation within the ninth intron splice junction of Pxalpha6 results in mis-splicing of transcripts and produce a predicted protein truncated between the third and fourth transmembrane domains. N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
nAChR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Rinkevich FD; Chen M; Shelton AM ; et al. (2010)
Transcripts of the nicotinic acetylcholine receptor subunit gene Pxylα6 with premature stop codons a[...]
GP00002652
CHRNA6
Q15825
Physiology
transcripts with premature stop codons N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
nAChR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Plutella xylostella
diamondback moth - (species) D
Experimental Evolution
Candidate Gene
Wang J; Wang X; Lansdell SJ ; et al. (2016)
A three amino acid deletion in the transmembrane domain of the nicotinic acetylcholine receptor α6 s[...]
GP00002653
CHRNA6
Q15825
Physiology
a three amino acid (3-aa) deletion in the fourth transmembrane domain (TM4) of the nAChR α6 subunit N
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
nAChR
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
nAChR
Xenobiotic resistance (insecticide; spinosad)
Coding,
Deletion
N
Rhyzopertha dominica
lesser grain borer - (species) D
Intraspecific
Candidate Gene
Wang HT; Tsai CL; Chen ME (2018)
Nicotinic acetylcholine receptor subunit α6 associated with spinosad resistance in Rhyzopertha domin[...]
GP00002654
CHRNA6
Q15825
Physiology
Three mutations were found in the resistant strain compared with the susceptible one: (1) a 181-bp fragment truncated at the N-terminus resulting in the appearance of a premature stop codon - (2) one missing bp at the position 997 causing a frame-shift mutation and (3) an 87-bp fragment truncated in the TM2 region. N
Rhyzopertha dominica
lesser grain borer - (species)
Rhyzopertha dominica
lesser grain borer - (species) D
nAChR
Rhyzopertha dominica
lesser grain borer - (species)
Published - Accepted by Curator
NAM-B1 (=Gpc-B1)
Grain content
Senescence (grain)
Coding,
Insertion
N
Triticum turgidum
(species) D
Domesticated
Linkage Mapping
Uauy C; Distelfeld A; Fahima T ; et al. (2006)
A NAC Gene regulating senescence improves grain protein, zinc, and iron content in wheat.
GP00000717
NAM-B1
A0SPJ4
Physiology
Physiology
1bp insertion resulting in frameshift N
Triticum turgidum
(species)
Triticum turgidum
(species) D
NAM-B1 (=Gpc-B1)
Triticum turgidum
(species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Coding,
SNP
N
Columba livia
rock pigeon - (species) D
Domesticated
Association Mapping
Vickrey AI; Bruders R; Kronenberg Z ; et al. (2018)
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity i[...]
GP00002250
Ndp
P48744
Morphology
Start-codon change predicted to truncate the amino terminus of the NDP protein by 11 amino acids thereby disrupting the 24-amino acid signal peptide sequence N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
ndp (norrin)
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Cis-regulatory,
Insertion
N
Columba livia
rock pigeon - (species) D
Columba guinea
speckled pigeon - (species) D
Intraspecific
Association Mapping
Vickrey AI; Bruders R; Kronenberg Z ; et al. (2018)
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity i[...]
GP00002251
Ndp
P48744
Morphology
CNV driven by tandem repeats with one (bar) two (checker) or four (T-checker) copies per chromosome between approximative positions 1790000 and 1805600 N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Columba guinea
speckled pigeon - (species) D
ndp (norrin)
Columba livia
rock pigeon - (species)
Columba guinea
speckled pigeon - (species)
Published - Accepted by Curator
neurogenin 3
Digestion (absence of stomach)
Gene Loss,
Deletion
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.
GP00001915
NEUROG3
Q9Y4Z2
Physiology
Absence of the gene in the genome sequence - Neurogenin-3 is a transcription factor whose activity is required for the specification of gastric epithelial cell identity - Deficiency of this factor results in considerably smaller stomachs and absence of gastrin-secreting G cells: somatostatin-secreting D cells and glucagon-secreting A cells N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
neurogenin 3
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Catecholamine metabolism
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Protas ME; Hersey C; Kochanek D ; et al. (2006)
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
2 Additional References
GP00000745
Oca2
Q62052
Morphology
Physiology
Deletion of exon 21 N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
Oca2
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Catecholamine metabolism
Coding,
Deletion
N
Astyanax mexicanus
Mexican tetra - (species) D
Intraspecific
Linkage Mapping
Protas ME; Hersey C; Kochanek D ; et al. (2006)
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.
2 Additional References
GP00000746
Oca2
Q62052
Morphology
Physiology
Almost complete deletion of exon 24; + 2 a.a subsitutions at conserved positions - the two point mutations do not drastically affect the function of OCA2 in cell lines suggesting that the exon 24 deletion is the mutation that causes albinism in the Pachón population N
Astyanax mexicanus
Mexican tetra - (species)
Astyanax mexicanus
Mexican tetra - (species) D
Oca2
Astyanax mexicanus
Mexican tetra - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Insertion
N
Pantherophis guttatus
(species) D
Intraspecific
Linkage Mapping
Saenko SV; Lamichhaney S; Martinez Barrio A ; et al. (2015)
Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 g[...]
GP00001619
OCA2
Q04671
Morphology
insertion of an LTR-retrotransposon (5832-bp) in the 11th intron resulting after splicing in an additional 397-bp fragment constituted of 3 new exons inserted between exons 11 and 12. Generates truncated protein with two stop codons N
Pantherophis guttatus
(species)
Pantherophis guttatus
(species) D
Oca2
Pantherophis guttatus
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Deletion
N
Melanochromis auratus
(species) D
Intraspecific
Candidate Gene
Kratochwil CF; Urban S; Meyer A (2019)
Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an ame[...]
GP00001955
Oca2
Q62052
Morphology
deletion covering a total of 5.4kb including exon 2 and parts of the flanking introns 1 and 2 N
Melanochromis auratus
(species)
Melanochromis auratus
(species) D
Oca2
Melanochromis auratus
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Insertion
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002351
Oca2
Q62052
Morphology
1-bp insert creating a frameshift and a truncated protein (470 amino acids instead of 805). In oca2L ohnolog on chromosome LG6. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Oca2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Deletion
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002352
Oca2
Q62052
Morphology
1-bp deletion creating a frameshift and a truncated protein (519 amino acids instead of 805). In oca2S ohnolog on chromosome LG31. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Oca2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
OCYMENE SYNTHASE (OS)
Fragrance (floral terpenoid volatiles; E- beta-ocimene)
Coding,
SNP
N
Erythranthe cardinalis
(species) D
Interspecific
Linkage Mapping
Byers KJ; Vela JP; Peng F ; et al. (2014)
Floral volatile alleles can contribute to pollinator-mediated reproductive isolation in monkeyflower[...]
1 Additional References
GP00001760
TPS02
P0CJ43
Physiology
multiple candidate coding sequence differences - together they eliminate the ability of the enzyme to produce E-beta-ocimene - effect of individual mutations not tested N
Erythranthe lewisii
(species)
Erythranthe cardinalis
(species) D
OCYMENE SYNTHASE (OS)
Erythranthe cardinalis
(species)
Published - Accepted by Curator
OCYMENE SYNTHASE (OS)
Fragrance (floral terpenoid volatiles; E- beta-ocimene)
Coding,
Deletion
N
Erythranthe verbenacea
(species) D
Interspecific
Candidate Gene
Peng F; Byers KJRP; Bradshaw HD (2017)
Less is more: Independent loss-of-function OCIMENE SYNTHASE alleles parallel pollination syndrome di[...]
GP00001762
TPS02
P0CJ43
Physiology
large deletion from the third exon to the last exon N
Erythranthe lewisii
(species)
Erythranthe verbenacea
(species) D
OCYMENE SYNTHASE (OS)
Erythranthe verbenacea
(species)
Published - Accepted by Curator
OCYMENE SYNTHASE (OS)
Fragrance (floral terpenoid volatiles; E- beta-ocimene)
Coding,
Insertion
N
Erythranthe bicolor
(species) D
Interspecific
Candidate Gene
Peng F; Byers KJRP; Bradshaw HD (2017)
Less is more: Independent loss-of-function OCIMENE SYNTHASE alleles parallel pollination syndrome di[...]
GP00001763
TPS02
P0CJ43
Physiology
2-bp insertion in the second exon, producing a frameshift mutation and premature termination N
Erythranthe lewisii
(species)
Erythranthe bicolor
(species) D
OCYMENE SYNTHASE (OS)
Erythranthe bicolor
(species)
Published - Accepted by Curator
opaque2 (O2)
Lysine content (endosperm)
Coding,
Deletion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Schmidt RJ; Burr FA; Burr B (1987)
Transposon tagging and molecular analysis of the maize regulatory locus opaque-2.
1 Additional References
GP00000753
O2
P12959
Physiology
1bp deletion predicted to cause premature termination of translation N
Zea mays
(species)
Zea mays
(species) D
opaque2 (O2)
Zea mays
(species)
Published - Accepted by Curator
opsin - (SWS1)
Color vision
Coding,
Deletion
N
Mysticeti
baleen whales - (suborder) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000756
OPN1SW
P03999
Physiology
4bp frameshift deletion in exon 1 of SWS1 that results in a premature stop codon N
Cetacea
whales - (order)
Mysticeti
baleen whales - (suborder) D
opsin - (SWS1)
Mysticeti
baleen whales - (suborder)
Published - Accepted by Curator
opsin - (SWS1)
Color vision (loss of violet-range sensitivity)
Coding,
Deletion
N
Sciurus carolinensis
gray squirrel - (species) D
Intergeneric or Higher
Candidate Gene
Carvalho Ldos S; Cowing JA; Wilkie SE ; et al. (2006)
Shortwave visual sensitivity in tree and flying squirrels reflects changes in lifestyle.
GP00000758
OPN1SW
P03999
Physiology
6bp deletion (residues 77-78) + 1bp frameshift deletion N
Sciurus carolinensis
gray squirrel - (species)
Sciurus carolinensis
gray squirrel - (species) D
opsin - (SWS1)
Sciurus carolinensis
gray squirrel - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Balaenopteridae
rorquals - (family) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000771
OPN1LW
P04000
Physiology
22bp deletion including transciption start N
Cetacea
whales - (order)
Balaenopteridae
rorquals - (family) D
opsin - rhodopsin (LWS)
Balaenopteridae
rorquals - (family)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Kogia breviceps
pygmy sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000772
OPN1LW
P04000
Physiology
44bp frameshift deletion 9 + possibly GT to CT splice site mutation N
Cetacea
whales - (order)
Kogia breviceps
pygmy sperm whale - (species) D
opsin - rhodopsin (LWS)
Kogia breviceps
pygmy sperm whale - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Deletion
N
Physeter catodon
sperm whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000773
OPN1LW
P04000
Physiology
1bp + 28bp frameshift deletions N
Cetacea
whales - (order)
Physeter catodon
sperm whale - (species) D
opsin - rhodopsin (LWS)
Physeter catodon
sperm whale - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Coding,
Insertion
N
Mesoplodon bidens
Sowerby's beaked whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000774
OPN1LW
P04000
Physiology
4bp frameshift insertion in exon 2 of LWS N
Cetacea
whales - (order)
Mesoplodon bidens
Sowerby's beaked whale - (species) D
opsin - rhodopsin (LWS)
Mesoplodon bidens
Sowerby's beaked whale - (species)
Published - Accepted by Curator
opsin - rhodopsin (LWS)
Color vision
Gene Loss,
Deletion
N
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
Interspecific
Candidate Gene
Yang J; Chen X; Bai J ; et al. (2016)
The Sinocyclocheilus cavefish genome provides insights into cave adaptation.
GP00002353
OPN1LW
P04000
Physiology
Lws2 coding sequence absent from the full genome sequence N
Danio rerio
zebrafish - (species)
Sinocyclocheilus anshuiensis
(species) D
Sinocyclocheilus grahami
(species) D
Sinocyclocheilus rhinocerous
(species) D
opsin - rhodopsin (LWS)
Sinocyclocheilus anshuiensis
(species)
Sinocyclocheilus grahami
(species)
Sinocyclocheilus rhinocerous
(species)
Published - Accepted by Curator
Os07g0603400
Grain size
Grain quality
2 Mutations:
Coding
SNP
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Wang Y; Xiong G; Hu J ; et al. (2015)
Copy number variation at the GL7 locus contributes to grain size diversity in rice.
GP00001542
Os07g0603400
A3BLY4
Morphology
Physiology
2 mutations
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Os07g0603400
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsC1
Coloration (loss of apiculus color)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Saitoh K; Onishi K; Mikami I ; et al. (2004)
Allelic diversification at the C (OsC1) locus of wild and cultivated rice: nucleotide changes associ[...]
2 Additional References
GP00000805
C
Q76B79
Morphology
10bp deletion N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsC1
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsC1
Coloration (loss of apiculus color)
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Saitoh K; Onishi K; Mikami I ; et al. (2004)
Allelic diversification at the C (OsC1) locus of wild and cultivated rice: nucleotide changes associ[...]
2 Additional References
GP00000806
C
Q76B79
Morphology
2bp deletion N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsC1
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsCKX2=Gn1a
Grain yield
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Ashikari M; Sakakibara H; Lin S ; et al. (2005)
Cytokinin oxidase regulates rice grain production.
GP00000807
CKX2
Q4ADV8
Morphology
11bp deletion causing premature stop codon N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
OsCKX2=Gn1a
Oryza sativa
rice - (species)
Published - Accepted by Curator
OVATE
Fruit shape
Coding,
SNP
N
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Liu J; Van Eck J; Cong B ; et al. (2002)
A new class of regulatory genes underlying the cause of pear-shaped tomato fruit.
GP00000815
Q8GSM4
Morphology
V164* caused by G>T; which leads to a 75-aa truncation in the C terminus of the predicted protein N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species)
OVATE
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00000817
LPAR6
P43657
Morphology
at position 69 insertion of 4bp CATG - causes frameshift at codon 24 (PTC +29) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001734
LPAR6
P43657
Morphology
2 deletions - one at position 172-175 delAACT and one at position 177 delG - cause frameshift at codon 58 (PTC +31) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001735
LPAR6
P43657
Morphology
188A>T which causes D63V N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001736
LPAR6
P43657
Morphology
562A>T which causes I188F N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001737
LPAR6
P43657
Morphology
565G>A which causes E189K N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
PAP1
Coloration (anthocyanin accumulation under high-light and low-temperature stress)
Gene Loss,
Deletion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Ilk N; Ding J; Ihnatowicz A ; et al. (2015)
Natural variation for anthocyanin accumulation under high-light and low-temperature stress is attrib[...]
1 Additional References
GP00001232
MYB75
Q9FE25
Physiology
several deletions in the promoter; first intron; second exon and 3' UTR region (putative loss of function) N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
PAP1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
peel-1
Hybrid incompatibility
Coding,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Seidel HS; Ailion M; Li J ; et al. (2011)
A novel sperm-delivered toxin causes late-stage embryo lethality and transmission ratio distortion i[...]
1 Additional References
GP00001321
peel-1
G5EGC6
Physiology
1bp deletion creating a frameshift starting at amino acid position 43. Total length of wild-type protein is 174 amino acids. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
peel-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
peel-1
Hybrid incompatibility
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Seidel HS; Ailion M; Li J ; et al. (2011)
A novel sperm-delivered toxin causes late-stage embryo lethality and transmission ratio distortion i[...]
1 Additional References
GP00001322
peel-1
G5EGC6
Physiology
G>T - glycine to stop codon at position 57. Total length of wild-type protein is 174 amino acids. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
peel-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
peel-1/zeel-1
Hybrid incompatibility
Gene Loss,
Deletion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Seidel HS; Rockman MV; Kruglyak L (2008)
Widespread genetic incompatibility in C. elegans maintained by balancing selection.
1 Additional References
GP00001320
peel-1
G5EGC6
Physiology
19kb deletion N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
peel-1/zeel-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
pepsinogen A
Digestion (absence of stomach)
Gene Loss,
Deletion
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.
GP00001911
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
pepsinogen A
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
pepsinogen A1
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001917
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Oreochromis niloticus
Nile tilapia - (species)
Danio rerio
zebrafish - (species) D
pepsinogen A1
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
pepsinogen A1
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001924
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
pepsinogen A1
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
pepsinogen A1
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001930
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
pepsinogen A1
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
pepsinogen A2
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001918
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Oreochromis niloticus
Nile tilapia - (species)
Danio rerio
zebrafish - (species) D
pepsinogen A2
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
pepsinogen A2
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001925
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
pepsinogen A2
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
pepsinogen A2
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001931
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
pepsinogen A2
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
pepsinogen A3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Danio rerio
zebrafish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001919
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Gadus morhua
Atlantic cod - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Danio rerio
zebrafish - (species) D
pepsinogen A3
Danio rerio
zebrafish - (species)
Published - Accepted by Curator
pepsinogen A3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001926
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
pepsinogen A3
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
pepsinogen A3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001927
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Oryzias latipes
Japanese medaka - (species) D
Xiphophorus maculatus
southern platyfish - (species) D
pepsinogen A3
Oryzias latipes
Japanese medaka - (species)
Xiphophorus maculatus
southern platyfish - (species)
Published - Accepted by Curator
pepsinogen A3
Digestion (absence of stomach)
Gene Loss,
Deletion
N
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
Intergeneric or Higher
Candidate Gene
Castro LF; Gonçalves O; Mazan S ; et al. (2014)
Recurrent gene loss correlates with the evolution of stomach phenotypes in gnathostome history.
GP00001932
PGA4
P0DJD7
Physiology
Absence of the gene in the genome sequence - high synteny N
Oreochromis niloticus
Nile tilapia - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Takifugu rubripes
torafugu - (species) D
Tetraodon nigroviridis
spotted green pufferfish - (species) D
pepsinogen A3
Takifugu rubripes
torafugu - (species)
Tetraodon nigroviridis
spotted green pufferfish - (species)
Published - Accepted by Curator
pepsinogen B
Digestion (absence of stomach)
Gene Loss,
Deletion
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.
GP00001913
PGB
Q8SQ41
Physiology
Absence of the gene in the genome sequence - high synteny N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
pepsinogen B
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
pepsinogen C
Digestion (absence of stomach)
Gene Loss,
Deletion
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.
GP00001912
PGC
P20142
Physiology
Absence of the gene in the genome sequence - high synteny N
Monodelphis domestica
gray short-tailed opossum - (species)
Ornithorhynchus anatinus
platypus - (species) D
pepsinogen C
Ornithorhynchus anatinus
platypus - (species)
Published - Accepted by Curator
PER36
Mucilage (seeds)
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Macquet A; Ralet MC; Loudet O ; et al. (2007)
A naturally occurring mutation in an Arabidopsis accession affects a beta-D-galactosidase that incre[...]
1 Additional References
GP00001273
PER36
Q9SD46
Physiology
Tyrosine @position 262bp to a stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
PER36
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
PG
Fruit ripening
Coding,
Deletion
N
Capsicum annuum
(species) D
Domesticated
Candidate Gene
Kim S; Park M; Yeom SI ; et al. (2014)
Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum speci[...]
GP00001448
PG
B9VRK6
Physiology
a partial deletion of about 90aa in the C-terminal region N
Solanum lycopersicum
tomato - (species)
Capsicum annuum
(species) D
PG
Capsicum annuum
(species)
Published - Accepted by Curator
PG
Fruit ripening
Coding,
SNP
N
Capsicum chinense
(species) D
Domesticated
Candidate Gene
Kim S; Park M; Yeom SI ; et al. (2014)
Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum speci[...]
GP00001449
PG
B9VRK6
Physiology
a point mutation in the 3' splice acceptor site of intron VIII generates a premature stop codon N
Solanum lycopersicum
tomato - (species)
Capsicum chinense
(species) D
PG
Capsicum chinense
(species)
Published - Accepted by Curator
PH4/GmMYB-G20-1
Coloration (flowers)
Coding,
SNP
N
Glycine max
soybean - (species)
Domesticated
Linkage Mapping
Takahashi R; Benitez ER; Oyoo ME ; et al. (2011 Jul-Aug)
Nonsense mutation of an MYB transcription factor is associated with purple-blue flower color in soyb[...]
GP00000862
PH4
Q2TCH0
Morphology
Substitution creating premature Stop (codon 158) N
Glycine max
soybean - (species)
Glycine max
soybean - (species)
PH4/GmMYB-G20-1
Glycine max
soybean - (species)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
2 Mutations:
Coding
SNP
N
Flaveria trinervia
(species)
Interspecific
Candidate Gene
Bläsing OE; Westhoff P; Svensson P (2000)
Evolution of C4 phosphoenolpyruvate carboxylase in Flaveria, a conserved serine residue in the carbo[...]
1 Additional References
GP00000867
PPCA
P30694
Physiology
2 mutations
Flaveria pringlei
(species)
Flaveria trinervia
(species)
phosphoenolpyruvate carboxylase (PEPC)
Flaveria trinervia
(species)
Published - Accepted by Curator
phytochrome A (PHYA)
Light sensitivity
High-altitude adaptation
Coding,
Insertion
N
Glycine max
soybean - (species) D
Domesticated
Candidate Gene
Liu B; Kanazawa A; Matsumura H ; et al. (2008)
Genetic redundancy in soybean photoresponses associated with duplication of the phytochrome A gene.
1 Additional References
GP00002104
PHYA
P14712
Physiology
Physiology
insertion of a retrotransposon in exon 1 - The transposable element is SORE-1 = a novel Ty1/copia-like retrotransposon in soybean N
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
phytochrome A (PHYA)
Glycine max
soybean - (species)
Published - Accepted by Curator
phytochrome C (PHYC)
Light sensitivity
Coding,
SNP
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Balasubramanian S; Sureshkumar S; Agrawal M ; et al. (2006)
The PHYTOCHROME C photoreceptor gene mediates natural variation in flowering and growth responses of[...]
GP00000873
PHYC
P14714
Physiology
K299*; the predicted Fr-2 PHYC protein therefore lacks half of the GAF domain; and the entire PHY; PAS and histidine kinase domains; all of which are typically required for phytochrome function N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
phytochrome C (PHYC)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytochrome D (PHYD)
Leaf morphology (increased petiole length)
Cotyledon morphology (reduced cotyledon area)
Coloration (anthocyanin accumulation in seedling stems)
Plant size (diminished effect of end-of-day pulse of far red light on hypocotyl elongation)
Plant architecture (decrease in number of rosette leaves at onset of flowering)
Coding,
Deletion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Aukerman MJ; Hirschfeld M; Wester L ; et al. (1997)
A deletion in the PHYD gene of the Arabidopsis Wassilewskija ecotype defines a role for phytochrome [...]
GP00000874
PHYD
P42497
Morphology
Morphology
Morphology
Physiology
Morphology
14bp deletion causing premature stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
phytochrome D (PHYD)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
phytoene synthase
Carotenoid content (fruit)
Coding,
Insertion
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Fray RG; Grierson D (1993)
Identification and genetic analysis of normal and mutant phytoene synthase genes of tomato by sequen[...]
1 Additional References
GP00001718
PSY1
P49085
Physiology
insertion of a Rider transposable element within the coding region N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
phytoene synthase
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
phytoene synthase
Carotenoid content (fruit)
Coding,
Indel
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Fray RG; Grierson D (1993)
Identification and genetic analysis of normal and mutant phytoene synthase genes of tomato by sequen[...]
1 Additional References
GP00001719
PSY1
P49085
Physiology
r y cDNA was found to be mutated at its 3' end, lacking the last 237 bases of PSY1 coding sequence and containing 185 nucleotides of an unrelated sequence in its place N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
phytoene synthase
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Pid3
Pathogen resistance
Coding,
Deletion
N
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Chen J; Shi Y; Liu W ; et al. (2011)
A Pid3 allele from rice cultivar Gumei2 confers resistance to Magnaporthe oryzae.
GP00000883
Pid3
C0LMX9
Physiology
1bp deletion resulting in truncated protein N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Pid3
Oryza sativa
rice - (species)
Published - Accepted by Curator
plg-1
Copulatory plug
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Palopoli MF; Rockman MV; TinMaung A ; et al. (2008)
Molecular basis of the copulatory plug polymorphism in Caenorhabditis elegans.
GP00000898
Physiology
insertion of transposable element in an exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
plg-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
PMEI6
Mucilage (seeds)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
1 Additional References
GP00001272
AXX17_At2g45450
A0A178VVA1
Physiology
frameshift mutation due to a 1-bp insertion 581 bp after the ATG codon that changed amino acids 194 to 205 followed by the introduction of a stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
PMEI6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
poils au dos (pad)
Bristle number (thorax)
Coding,
Deletion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Gibert JM; Marcellini S; David JR ; et al. (2005)
A major bristle QTL from a selected population of Drosophila uncovers the zinc-finger transcription [...]
GP00000915
pad
Q9VEW6
Morphology
29bp deletion N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
poils au dos (pad)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Pore-forming toxin-like (PFT)
Pathogen resistance (Fusarium)
Gene Loss,
Indel
N
Triticum aestivum
bread wheat - (species)
Intraspecific
Linkage Mapping
Rawat N; Pumphrey MO; Liu S ; et al. (2016)
Wheat Fhb1 encodes a chimeric lectin with agglutinin domains and a pore-forming toxin-like domain co[...]
GP00001563
Q4JEV5
Physiology
PFT gene is present and constitutively expressed in resistant line and absent in susceptible line N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
Pore-forming toxin-like (PFT)
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
pot-2
Telomere length
Coding,
SNP
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Cook DE; Zdraljevic S; Tanny RE ; et al. (2016)
The Genetic Basis of Natural Variation in Caenorhabditis elegans Telomere Length.
GP00001317
pot-2
O45595
Physiology
Phenylalanine-to-isoleucine (F68I) N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
pot-2
Caenorhabditis elegans
(species)
Published - Accepted by Curator
Potassium channel subfamily K
Fin morphology (skeleton; dorsal fin; caudal fin; tail; paired fin)
Coding,
SNP
N
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002348
KCNK5
O95279
Morphology
Substitution of a hydrophobic amino acid (valine) with a hydrophilic amino acid (glutamic acid) appears to cause a critical alteration of channel gating. In total there are five amino acid substitutions or deletions in kcnk5bS in goldfish with the long-tail phenotype. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Potassium channel subfamily K
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
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