Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Your research retrieved 93 results.

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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	Main Curator	Edit Gene-GePhe	Taxon B	Status	Date of Sent Email
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 (albinism)	Coding, SNP	Astyanax mexicanus Mexican tetra - (species) D	Intraspecific	Linkage Mapping	Gross JB; Borowsky R; Tabin CJ (2009) A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the [...]	GP00000568	MC1R Q01726	Morphology	Arg164Cys (position 160 in human; so this mutation resembles the human R160W hypomorphic human mutation)	Astyanax mexicanus Mexican tetra - (species)	Astyanax mexicanus Mexican tetra - (species) D		MC1R	Astyanax mexicanus Mexican tetra - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Vulpes lagopus Arctic fox - (species)	Interspecific	Candidate Gene	Våge DI; Fuglei E; Snipstad K ; et al. (2005) Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...] 1 Additional References Liu Z; Gong Y; Feng M (2016) Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox.	GP00000569	MC1R Q01726	Morphology	G5C	Vulpes vulpes red fox - (species)	Vulpes lagopus Arctic fox - (species)		MC1R	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Vulpes lagopus Arctic fox - (species)	Interspecific	Candidate Gene	Våge DI; Fuglei E; Snipstad K ; et al. (2005) Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) [...] 1 Additional References Liu Z; Gong Y; Feng M (2016) Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox.	GP00000569	MC1R Q01726	Morphology	F280C	Vulpes vulpes red fox - (species)	Vulpes lagopus Arctic fox - (species)		MC1R	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion 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 Joerg H; Fries HR; Meijerink E (1996) Red coat color in Holstein cattle is associated with a deletion in the MSHR gene.	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)	Coding, SNP	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.	GP00000572	MC1R Q01726	Morphology	L99P ; presumably constitutively active - g.14757910T>C c.296T>C p.L99P	Bos taurus cattle - (species)	Bos taurus cattle - (species) D		MC1R	Bos taurus cattle - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Newton JM; Wilkie AL; He L ; et al. (2000) Melanocortin 1 receptor variation in the domestic dog. 1 Additional References Everts RE; Rothuizen J; van Oost BA (2000) Identification of a premature stop codon in the melanocyte-stimulating hormone receptor gene (MC1R) [...]	GP00000573	MC1R Q01726	Morphology	R306ter; deletes 12 of 17 a.a. from C-terminus	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	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Schmutz SM; Berryere TG; Ellinwood NM ; et al. (2003 Jan-Feb) MC1R studies in dogs with melanistic mask or brindle patterns.	GP00000574	MC1R Q01726	Morphology	M264V	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		MC1R	Canis lupus familiaris dog - (subspecies)	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, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000576	MC1R Q01726	Morphology	R18C	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D		MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000577	MC1R Q01726	Morphology	R109W	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D		MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000578	MC1R Q01726	Morphology	R160W	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D		MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Chaetodipus intermedius rock pocket mouse - (species) D	Intraspecific	Candidate Gene	Nachman MW; Hoekstra HE; D'Agostino SL (2003) The genetic basis of adaptive melanism in pocket mice.	GP00000579	MC1R Q01726	Morphology	Q233H	Chaetodipus intermedius rock pocket mouse - (species)	Chaetodipus intermedius rock pocket mouse - (species) D		MC1R	Chaetodipus intermedius rock pocket mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Equus caballus horse - (species)	Intraspecific	Candidate Gene	Marklund L; Moller MJ; Sandberg K ; et al. (1996) A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated wit[...] 1 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.	GP00000580	MC1R Q01726	Morphology	S83F	Equus caballus horse - (species)	Equus caballus horse - (species)		MC1R	Equus caballus horse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Puma yagouaroundi jaguarundi - (species) D	Intraspecific	Candidate Gene	Eizirik E; Yuhki N; Johnson WE ; et al. (2003) Molecular genetics and evolution of melanism in the cat family.	GP00000581	MC1R Q01726	Morphology	Deletion of aa 95-102	Puma yagouaroundi jaguarundi - (species)	Puma yagouaroundi jaguarundi - (species) D		MC1R	Puma yagouaroundi jaguarundi - (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 (coat)	Coding, SNP	Mus poschiavinus (species)	Interspecific	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000583	MC1R Q01726	Morphology	S69L	Mus musculus house mouse - (species)	Mus poschiavinus (species)		MC1R	Mus poschiavinus (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000584	MC1R Q01726	Morphology	E92K	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)		MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Domesticated	Candidate Gene	Robbins LS; Nadeau JH; Johnson KR ; et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MS[...]	GP00000585	MC1R Q01726	Morphology	L98P	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)		MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Mus musculus house mouse - (species)	Intraspecific	Candidate Gene	Wada A; Kunieda T; Nishimura M ; et al. (2005 Mar-Apr) A nucleotide substitution responsible for the tawny coat color mutation carried by the MSKR inbred s[...]	GP00000586	MC1R Q01726	Morphology	W252C	Mus musculus house mouse - (species)	Mus musculus house mouse - (species)		MC1R	Mus musculus house mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, Deletion	Numida meleagris helmeted guineafowl - (species) D	Domesticated	Candidate Gene	Vidal O; Araguas RM; Fernández E ; et al. (2010) Melanism in guinea fowl (Numida meleagris) is associated with a deletion of Phenylalanine-256 in the[...]	GP00000587	MC1R Q01726	Morphology	Phe256del	Numida meleagris helmeted guineafowl - (species)	Numida meleagris helmeted guineafowl - (species) D		MC1R	Numida meleagris helmeted guineafowl - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Tazzoli M; Beretti F ; et al. (2006) Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]	GP00000588	MC1R Q01726	Morphology	6bp in-frame del of 94-95	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Tazzoli M; Beretti F ; et al. (2006) Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domesti[...]	GP00000589	MC1R Q01726	Morphology	30bp in-frame del of 102-111	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Fontanesi L; Scotti E; Colombo M ; et al. (2010) A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with t[...]	GP00000590	MC1R Q01726	Morphology	6bp in frame deletion c.[124G>A;125_130del6] + L44T (homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits )	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D		MC1R	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Klungland H; Lu D ; et al. (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00000591	MC1R Q01726	Morphology	D121N	Ovis aries sheep - (species)	Ovis aries sheep - (species)		MC1R	Ovis aries sheep - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ovis aries sheep - (species)	Domesticated	Candidate Gene	Våge DI; Klungland H; Lu D ; et al. (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. 1 Additional References Hepp D; Gonçalves GL; Moreira GR (2016) Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wo[...]	GP00000592	MC1R Q01726	Morphology	M73K	Ovis aries sheep - (species)	Ovis aries sheep - (species)		MC1R	Ovis aries sheep - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Panthera onca jaguar - (species) D	Intraspecific	Candidate Gene	Eizirik E; Yuhki N; Johnson WE ; et al. (2003) Molecular genetics and evolution of melanism in the cat family.	GP00000593	MC1R Q01726	Morphology	Deletion of aa 101-105 and L106T	Panthera onca jaguar - (species)	Panthera onca jaguar - (species) D		MC1R	Panthera onca jaguar - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Peromyscus polionotus oldfield mouse - (species)	Intraspecific	Linkage Mapping	Hoekstra HE; Hirschmann RJ; Bundey RA ; et al. (2006) A single amino acid mutation contributes to adaptive beach mouse color pattern.	GP00000594	MC1R Q01726	Morphology	R65C	Peromyscus polionotus oldfield mouse - (species)	Peromyscus polionotus oldfield mouse - (species)		MC1R	Peromyscus polionotus oldfield mouse - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Rattus rattus black rat - (species)	Interspecific	Candidate Gene	Kambe Y; Tanikawa T; Matsumoto Y ; et al. (2011) Origin of agouti-melanistic polymorphism in Wild Black Rats (Rattus rattus) inferred from Mc1r gene [...]	GP00000595	MC1R Q01726	Morphology	Glu93Lys	Rattus tanezumi Oriental house rat - (species)	Rattus rattus black rat - (species)		MC1R	Rattus rattus black rat - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Sciurus carolinensis gray squirrel - (species) D Sciurus niger fox squirrel - (species) D	Intraspecific	Candidate Gene	McRobie H; Thomas A; Kelly J (2009 Nov-Dec) The genetic basis of melanism in the gray squirrel (Sciurus carolinensis). 1 Additional References McRobie HR; Moncrief ND; Mundy NI (2019) Multiple origins of melanism in two species of North American tree squirrel (Sciurus).	GP00000596	MC1R Q01726	Morphology	Deletion of 8 a.a.	Sciurus carolinensis gray squirrel - (species) Sciurus niger fox squirrel - (species)	Sciurus carolinensis gray squirrel - (species) D Sciurus niger fox squirrel - (species) D		MC1R	Sciurus carolinensis gray squirrel - (species) Sciurus niger fox squirrel - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Ursus americanus American black bear - (species)	Intraspecific	Candidate Gene	Ritland K; Newton C; Marshall HD (2001) Inheritance and population structure of the white-phased "Kermode" black bear.	GP00000597	MC1R Q01726	Morphology	Y298C	Ursus americanus American black bear - (species)	Ursus americanus American black bear - (species)		MC1R	Ursus americanus American black bear - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Vulpes vulpes red fox - (species)	Domesticated	Candidate Gene	Våge DI; Lu D; Klungland H ; et al. (1997) A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes. 1 Additional References Liu Z; Gong Y; Feng M (2016) Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox.	GP00000598	MC1R Q01726	Morphology	C125R; constitutively active receptor	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species)		MC1R	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Anser caerulescens snow goose - (species)	Intraspecific	Candidate Gene	Mundy NI; Badcock NS; Hart T ; et al. (2004) Conserved genetic basis of a quantitative plumage trait involved in mate choice.	GP00000599	MC1R Q01726	Morphology	V85M	Anser caerulescens snow goose - (species)	Anser caerulescens snow goose - (species)		MC1R	Anser caerulescens snow goose - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Coereba flaveola Bananaquit - (species) D	Intraspecific	Candidate Gene	Theron E; Hawkins K; Bermingham E ; et al. (2001) The molecular basis of an avian plumage polymorphism in the wild: a melanocortin-1-receptor point mu[...]	GP00000600	MC1R Q01726	Morphology	E92K	Coereba flaveola Bananaquit - (species)	Coereba flaveola Bananaquit - (species) D		MC1R	Coereba flaveola Bananaquit - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Columba livia rock pigeon - (species)	Domesticated	Candidate Gene	Guernsey MW; Ritscher L; Miller MA ; et al. (2013) A Val85Met mutation in melanocortin-1 receptor is associated with reductions in eumelanic pigmentati[...]	GP00000601	MC1R Q01726	Morphology	Val85Met (G253A)	Columba livia rock pigeon - (species)	Columba livia rock pigeon - (species)		MC1R	Columba livia rock pigeon - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Coturnix japonica Japanese quail - (species)	Domesticated	Linkage Mapping	Nadeau NJ; Minvielle F; Mundy NI (2006) Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japon[...]	GP00000602	MC1R Q01726	Morphology	E92K	Coturnix japonica Japanese quail - (species)	Coturnix japonica Japanese quail - (species)		MC1R	Coturnix japonica Japanese quail - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, Deletion	Falco eleonorae (species) D	Intraspecific	Candidate Gene	Gangoso L; Grande JM; Ducrest AL ; et al. (2011) MC1R-dependent, melanin-based colour polymorphism is associated with cell-mediated response in the E[...]	GP00000603	MC1R Q01726	Morphology	Deletion of 3 a.a.	Falco eleonorae (species)	Falco eleonorae (species) D		MC1R	Falco eleonorae (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Falco rusticolus gyrfalcon - (species)	Intraspecific	Candidate Gene	Johnson JA; Ambers AD; Burnham KK (2012 May-Jun) Genetics of plumage color in the Gyrfalcon (Falco rusticolus): analysis of the melanocortin-1 recept[...]	GP00000604	MC1R Q01726	Morphology	Val128Ile	Falco rusticolus gyrfalcon - (species)	Falco rusticolus gyrfalcon - (species)		MC1R	Falco rusticolus gyrfalcon - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers; eyes)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Linkage Mapping	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...] 2 Additional References Kerje S; Lind J; Schütz K (2003) Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken. Dávila SG; Gil MG; Resino-Talaván P (2014) Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color pheno[...]	GP00000605	MC1R Q01726	Morphology	E92K; constitutive activation	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)		MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000606	MC1R Q01726	Morphology	C33W	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)		MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000607	MC1R Q01726	Morphology	D37G	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)		MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Takeuchi S; Suzuki H; Yabuuchi M ; et al. (1996) A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the ch[...]	GP00000608	MC1R Q01726	Morphology	L244P	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)		MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Kerje S; Lind J; Schütz K ; et al. (2003) Melanocortin 1-receptor (MC1R) mutations are associated with plumage colour in chicken. 1 Additional References Dávila SG; Gil MG; Resino-Talaván P (2014) Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color pheno[...]	GP00000609	MC1R Q01726	Morphology	H215P	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)		MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Malurus leucopterus white-winged fairy-wren - (species)	Intraspecific	Candidate Gene	Doucet SM; Shawkey MD; Rathburn MK ; et al. (2004) Concordant evolution of plumage colour, feather microstructure and a melanocortin receptor gene betw[...]	GP00000610	MC1R Q01726	Morphology	A16T caused by guanine-to-adenine (G_A) transition at site 46; and/or I38N cause by a tyrosine-to-adenine (T_A) transition at site 113; and/or V11N caused by a G_A transition at site 331; and/or Q157R caused by an A_G substitution at site 470; Val166Ileu - exact causing amino acid change(s) unknown	Malurus leucopterus white-winged fairy-wren - (species)	Malurus leucopterus white-winged fairy-wren - (species)		MC1R	Malurus leucopterus white-winged fairy-wren - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Stercorarius parasiticus (species)	Intraspecific	Candidate Gene	Mundy NI; Badcock NS; Hart T ; et al. (2004) Conserved genetic basis of a quantitative plumage trait involved in mate choice.	GP00000611	MC1R Q01726	Morphology	R230H	Stercorarius parasiticus (species)	Stercorarius parasiticus (species)		MC1R	Stercorarius parasiticus (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Sula leucogaster (species)	Intraspecific	Candidate Gene	Baião PC; Parker PG (2012 May-Jun) Evolution of the melanocortin-1 receptor (MC1R) in Boobies and Gannets (Aves, Suliformes).	GP00000612	MC1R Q01726	Morphology	R112H	Sula leucogaster (species)	Sula leucogaster (species)		MC1R	Sula leucogaster (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Sula sula red-footed booby - (species)	Intraspecific	Candidate Gene	Baião PC; Schreiber E; Parker PG (2007 Jul-Aug) The genetic basis of the plumage polymorphism in red-footed boobies (Sula sula): a melanocortin-1 re[...]	GP00000613	MC1R Q01726	Morphology	V85M and/or H207R; current data cannot determine which one or if both these substitutions are underlying the phenotypic variation	Sula sula red-footed booby - (species)	Sula sula red-footed booby - (species)		MC1R	Sula sula red-footed booby - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Smith R; Healy E; Siddiqui S (1998) Melanocortin 1 receptor variants in an Irish population.	GP00000615	MC1R Q01726	Morphology	R151C	Homo sapiens human - (species)	Homo sapiens human - (species) D		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Box NF; Wyeth JR; O'Gorman LE (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	GP00000616	MC1R Q01726	Morphology	D294H	Homo sapiens human - (species)	Homo sapiens human - (species) D		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Smith R; Healy E; Siddiqui S ; et al. (1998) Melanocortin 1 receptor variants in an Irish population. 1 Additional References Box NF; Wyeth JR; O'Gorman LE (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	GP00000617	MC1R Q01726	Morphology	R160W	Homo sapiens human - (species)	Homo sapiens human - (species) D		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Box NF; Wyeth JR; O'Gorman LE ; et al. (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. 3 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Harding RM; Healy E; Ray AJ (2000) Evidence for variable selective pressures at MC1R. Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000618	MC1R Q01726	Morphology	Val60Leu	Homo sapiens human - (species)	Homo sapiens human - (species) D		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000619	MC1R Q01726	Morphology	Asp84Glu	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000620	MC1R Q01726	Morphology	Val92Met	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000621	MC1R Q01726	Morphology	Arg142His	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000622	MC1R Q01726	Morphology	Arg151Cys	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000623	MC1R Q01726	Morphology	Ile155Thr	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000624	MC1R Q01726	Morphology	Arg160Trp	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000625	MC1R Q01726	Morphology	Arg163Gln	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (red hair)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Sulem P; Gudbjartsson DF; Stacey SN ; et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. 1 Additional References Han J; Kraft P; Nan H (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigment[...]	GP00000626	MC1R Q01726	Morphology	Asp294His	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Aspidoscelis inornatus Little striped whiptail - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Hoekstra HE; Nachman MW (2004) Adaptive reptile color variation and the evolution of the Mc1r gene. 1 Additional References Rosenblum EB; Römpler H; Schöneberg T (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000627	MC1R Q01726	Morphology	I170T	Aspidoscelis inornatus Little striped whiptail - (species)	Aspidoscelis inornatus Little striped whiptail - (species)		MC1R	Aspidoscelis inornatus Little striped whiptail - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Holbrookia maculata lesser earless lizard - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Hoekstra HE; Nachman MW (2004) Adaptive reptile color variation and the evolution of the Mc1r gene. 1 Additional References Rosenblum EB; Römpler H; Schöneberg T (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000628	MC1R Q01726	Morphology	V168I; but failed functional validation in Rosenblum et al. 2010	Holbrookia maculata lesser earless lizard - (species)	Holbrookia maculata lesser earless lizard - (species)		MC1R	Holbrookia maculata lesser earless lizard - (species)	Published - Accepted by Curator
MC1R	Coloration (scales)	Coding, SNP	Sceloporus undulatus fence lizard - (species)	Intraspecific	Candidate Gene	Rosenblum EB; Römpler H; Schöneberg T ; et al. (2010) Molecular and functional basis of phenotypic convergence in white lizards at White Sands.	GP00000629	MC1R Q01726	Morphology	H208Y	Sceloporus undulatus fence lizard - (species)	Sceloporus undulatus fence lizard - (species)		MC1R	Sceloporus undulatus fence lizard - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007) A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.	GP00000630	MC1R Q01726	Morphology	Arg307Gly	Homo sapiens human - (species)	Homo sapiens human - (species)		MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, 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 Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000631	MC1R Q01726	Morphology	2bp insertion at 23 generates early stop @ 56 & D"121"N ? N	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D		MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000632	MC1R Q01726	Morphology	V"92"M actually at 95	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)		MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000633	MC1R Q01726	Morphology	D"121"N Actually 124	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)		MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000634	MC1R Q01726	Morphology	A"161"V actually 164	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)		MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000635	MC1R Q01726	Morphology	L"99" P Actually 102	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)		MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000636	MC1R Q01726	Morphology	A"240"T actually 243	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)		MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Gustafson NA; Gandolfi B; Lyons LA (2017) Not another type of potato: MC1R and the russet coloration of Burmese cats.	GP00001330	MC1R Q01726	Morphology	3bp deletion at c.439-441del (p.Phe146del)	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D		MC1R	Felis catus domestic cat - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Monarcha castaneiventris Makira monarch - (species) D	Intraspecific	Association Mapping	Uy JA; Cooper EA; Cutie S ; et al. (2016) Mutations in different pigmentation genes are associated with parallel melanism in island flycatcher[...]	GP00001333	MC1R Q01726	Morphology	Asp119Asn	Monarcha castaneiventris Makira monarch - (species)	Monarcha castaneiventris Makira monarch - (species) D		MC1R	Monarcha castaneiventris Makira monarch - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00001337	MC1R Q01726	Morphology	c.G>A p.Asp124Asn	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D		MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Arctocephalus gazella antarctic fur seal - (species) D	Intraspecific	Candidate Gene	Norris BJ; Whan VA (2008) A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]	GP00001338	MC1R Q01726	Morphology	c.C>T p.Ser291Phe	Arctocephalus gazella antarctic fur seal - (species)	Arctocephalus gazella antarctic fur seal - (species) D		MC1R	Arctocephalus gazella antarctic fur seal - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Tyto alba Barn owl - (species) D	Intraspecific	Candidate Gene	San-Jose LM; Ducrest AL; Ducret V ; et al. (2015) Effect of the MC1R gene on sexual dimorphism in melanin-based colorations. 3 Additional References San-Jose LM; Ducret V; Ducrest AL (2017) Beyond mean allelic effects: A locus at the major color gene MC1R associates also with differing lev[...] Burri R; Antoniazza S; Gaigher A (2016) The genetic basis of color-related local adaptation in a ring-like colonization around the Mediterra[...] San-Jose LM; Ducrest AL; Ducret V (2017) MC1R variants affect the expression of melanocortin and melanogenic genes and the association betwee[...]	GP00001339	MC1R Q01726	Morphology	p.Val126Ile	Tyto alba Barn owl - (species)	Tyto alba Barn owl - (species) D	R	MC1R	Tyto alba Barn owl - (species)	Reviewed	September 26, 2019 17:00
MC1R	Coloration (coat)	Coding, SNP	Rangifer tarandus reindeer - (species) D	Domesticated	Candidate Gene	Våge DI; Nieminen M; Anderson DG ; et al. (2014) Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral c[...]	GP00001350	Mc1r Q01727	Morphology	c.218T>C p.Met73Thr and c.839T>G p.Phe280Cys	Rangifer tarandus reindeer - (species)	Rangifer tarandus reindeer - (species) D		MC1R	Rangifer tarandus reindeer - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Rangifer tarandus reindeer - (species) D	Domesticated	Candidate Gene	Våge DI; Nieminen M; Anderson DG ; et al. (2014) Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral c[...]	GP00001350	Mc1r Q01727	Morphology	c.218T>C p.Met73Thr and c.839T>G p.Phe280Cys	Rangifer tarandus reindeer - (species)	Rangifer tarandus reindeer - (species) D		MC1R	Rangifer tarandus reindeer - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Abitbol M; Legrand R; Tiret L (2014) A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys.	GP00001351	Mc1r Q01727	Morphology	c.629T>C p.Met210Thr	Equus asinus ass - (species)	Equus asinus ass - (species) D		MC1R	Equus asinus ass - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Anas platyrhynchos mallard - (species) D	Domesticated	Candidate Gene	Yu W; Wang C; Xin Q ; et al. (2013) Non-synonymous SNPs in MC1R gene are associated with the extended black variant in domestic ducks (A[...]	GP00001352	Mc1r Q01727	Morphology	c.52G>A p.Glu18Lys	Anas platyrhynchos mallard - (species)	Anas platyrhynchos mallard - (species) D		MC1R	Anas platyrhynchos mallard - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Capra hircus goat - (species) D	Domesticated	Candidate Gene	Fontanesi L; Beretti F; Riggio V ; et al. (2009) Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: ass[...]	GP00001353	Mc1r Q01727	Morphology	c.801C>G p.Cys267Trp	Capra hircus goat - (species)	Capra hircus goat - (species) D		MC1R	Capra hircus goat - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP N	Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Zhang MQ; Xu X; Luo SJ (2014) The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).	GP00001354	Mc1r Q01727	Morphology	p.Gln34* and p.Met73Leu and p.Arg142Pro - p.Met73Leu and p.Arg142Pro were only found in heterozygous and their association with phenotype is supposed but not sure N	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D		MC1R	Bos grunniens domestic yak - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Stercorarius parasiticus (species)	Intraspecific	Candidate Gene	Janssen K; Mundy NI (2013) Molecular population genetics of the melanic plumage polymorphism in Arctic skuas (Stercorarius para[...]	GP00001355	Mc1r Q01727	Morphology	Melanic and nonmelanic haplotypes in the Arctic skua are defined by three amino acid changes: nonmelanic: His8-Glu12-Arg230; melanic: Arg8-Lys12-His230. The effect of each single amino acid change has not been tested	Stercorarius parasiticus (species)	Stercorarius parasiticus (species)		MC1R	Stercorarius parasiticus (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Ramphastos dicolorus (species) D Ramphastos vitellinus (species) D Ramphastos tucanus (species) D Ramphastos toco (species) D	Interspecific	Candidate Gene	Corso J; Mundy NI; Fagundes NJ ; et al. (2016) Evolution of dark colour in toucans (Ramphastidae): a case of molecular adaptation?	GP00001367	Mc1r Q01727	Morphology	R112H	Ramphastidae (family)	Ramphastos dicolorus (species) D Ramphastos vitellinus (species) D Ramphastos tucanus (species) D Ramphastos toco (species) D		MC1R	Ramphastos dicolorus (species) Ramphastos vitellinus (species) Ramphastos tucanus (species) Ramphastos toco (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Ramphastos dicolorus (species) D Ramphastos vitellinus (species) D Ramphastos tucanus (species) D Ramphastos toco (species) D	Interspecific	Candidate Gene	Corso J; Mundy NI; Fagundes NJ ; et al. (2016) Evolution of dark colour in toucans (Ramphastidae): a case of molecular adaptation?	GP00001367	Mc1r Q01727	Morphology	R230C	Ramphastidae (family)	Ramphastos dicolorus (species) D Ramphastos vitellinus (species) D Ramphastos tucanus (species) D Ramphastos toco (species) D		MC1R	Ramphastos dicolorus (species) Ramphastos vitellinus (species) Ramphastos tucanus (species) Ramphastos toco (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Ramphastos dicolorus (species) D Ramphastos vitellinus (species) D Ramphastos tucanus (species) D Ramphastos toco (species) D	Interspecific	Candidate Gene	Corso J; Mundy NI; Fagundes NJ ; et al. (2016) Evolution of dark colour in toucans (Ramphastidae): a case of molecular adaptation?	GP00001367	Mc1r Q01727	Morphology	H257R	Ramphastidae (family)	Ramphastos dicolorus (species) D Ramphastos vitellinus (species) D Ramphastos tucanus (species) D Ramphastos toco (species) D		MC1R	Ramphastos dicolorus (species) Ramphastos vitellinus (species) Ramphastos tucanus (species) Ramphastos toco (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP	Calidris pugnax ruff - (species) D	Intraspecific	Association Mapping	Lamichhaney S; Fan G; Widemo F ; et al. (2016) Structural genomic changes underlie alternative reproductive strategies in the ruff (Philomachus pug[...] 1 Additional References Küpper C; Stocks M; Risse JE (2016) A supergene determines highly divergent male reproductive morphs in the ruff.	GP00001466	MC1R Q01726	Morphology	Several amino acid changes. The His207Arg substitution most likely has functional consequences because the same variant is associated with light color in the red-footed booby.	Calidris pugnax ruff - (species)	Calidris pugnax ruff - (species) D		MC1R	Calidris pugnax ruff - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Leopardus geoffroyi Geoffroy's cat - (species) D	Intraspecific	Candidate Gene	Schneider A; Henegar C; Day K ; et al. (2015) Recurrent evolution of melanism in South American felids.	GP00001733	MC1R Q01726	Morphology	All melanistic individuals were heterozygous for four variants that predicted three nonsynonymous substitutions, p.C125R, p.T177I, and p.G194S - In the laboratory mouse a Cys to Arg substitution at the site homologous to felid residue 125 causes constitutive activation of the receptor and the exact same change is thought to be responsible for melanism in the Alaska silver fox - therefore C125R is considered to be the likely causative alteration in the Geoffroy’s cat.	Leopardus geoffroyi Geoffroy's cat - (species)	Leopardus geoffroyi Geoffroy's cat - (species) D		MC1R	Leopardus geoffroyi Geoffroy's cat - (species)	Published - Accepted by Curator
MC1R	Coloration (feathers)	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 [...]	GP00002299	MC1R Q01726	Morphology	c.364A>T p.I122F	Meleagris gallopavo mexicana (subspecies)	Meleagris gallopavo mexicana (subspecies) D		MC1R	Meleagris gallopavo mexicana (subspecies)	Published - Accepted by Curator
MC1R	Coloration (feathers)	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	c.887C>T p.A296V	Meleagris gallopavo mexicana (subspecies)	Meleagris gallopavo mexicana (subspecies) D		MC1R	Meleagris gallopavo mexicana (subspecies)	Published - Accepted by Curator
MC1R	Coloration (feathers)	Coding, SNP N	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	c.96G>A p.Trp32* stop-gain N	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)	Cis-regulatory, SNP	Canis lupus familiaris dog - (subspecies) D	Domesticated	Association Mapping	Dürig N; Letko A; Lepori V ; et al. (2018) Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.	GP00002302	MC1R Q01726	Morphology	single nucleotide variant within the MITF binding site of the canine MC1R promoter	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D		MC1R	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (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
MC1R	Coloration (feathers; eyes)	Coding, SNP	Gallus gallus chicken - (species)	Domesticated	Candidate Gene	Dávila SG; Gil MG; Resino-Talaván P ; et al. (2014) Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color pheno[...]	GP00002390	MC1R Q01726	Morphology	the Arg213Cys mutation may be the cause of the loss or the decrease of function of the receptor to produce eumelanin	Gallus gallus chicken - (species)	Gallus gallus chicken - (species)		MC1R	Gallus gallus chicken - (species)	Published - Accepted by Curator