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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
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 Bilandžija H; Abraham L; Ma L (2018) Behavioural changes controlled by catecholaminergic systems explain recurrent loss of pigmentation i[...] Klaassen H; Wang Y; Adamski K (2018) CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus.	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 Bilandžija H; Abraham L; Ma L (2018) Behavioural changes controlled by catecholaminergic systems explain recurrent loss of pigmentation i[...] Klaassen H; Wang Y; Adamski K (2018) CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus.	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 (eyes; skin, hair)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Eiberg H; Troelsen J; Nielsen M ; et al. (2008) Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory el[...] 5 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...] Visser M; Kayser M; Palstra RJ (2012) HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long[...] Beleza S; Johnson NA; Candille SI (2013) Genetic architecture of skin and eye color in an African-European admixed population. Crawford NG; Kelly DE; Hansen MEB (2017) Loci associated with skin pigmentation identified in African populations. Lona-Durazo F; Hernandez-Pacheco N; Fan S (2019) Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation [...]	GP00000747	Oca2 Q62052	Morphology	Causative SNP in enhancer localized in intron of neighbor gene HERC2 : likely rs12913832 within HERC2 which influences on OCA2 expression in eye hair and skin pigmentation	Homo sapiens human - (species)	Homo sapiens human - (species)	Oca2	Homo sapiens human - (species)	Published - Accepted by Curator
Oca2	Coloration (skin)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Edwards M; Bigham A; Tan J ; et al. (2010) Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...] 1 Additional References Yang Z; Zhong H; Chen J (2016) A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.	GP00000748	Oca2 Q62052	Morphology	His615Arg	Homo sapiens human - (species)	Homo sapiens human - (species) D	Oca2	Homo sapiens human - (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

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