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 20 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	Edit Gene-GePhe	Taxon B	Status
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Felis catus domestic cat - (species) D	Domesticated	Linkage Mapping	Lyons LA; Imes DL; Rah HC ; et al. (2005) Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). 1 Additional References Schmidt-Küntzel A; Eizirik E; O'Brien SJ (2005 Jul-Aug) Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...]	GP00001142	Tyr P11344	Morphology	c.679G>T p.G227W	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	tyrosinase (TYR)	Felis catus domestic cat - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Felis catus domestic cat - (species) D	Domesticated	Linkage Mapping	Lyons LA; Imes DL; Rah HC ; et al. (2005) Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). 1 Additional References Schmidt-Küntzel A; Eizirik E; O'Brien SJ (2005 Jul-Aug) Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of th[...]	GP00001143	Tyr P11344	Morphology	c. 940G>A p.G302R	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	tyrosinase (TYR)	Felis catus domestic cat - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (eyes; hair; skin)	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. 2 Additional References Sulem P; Gudbjartsson DF; Stacey SN (2008) Two newly identified genetic determinants of pigmentation in Europeans. Gudbjartsson DF; Sulem P; Stacey SN (2008) ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.	GP00001144	Tyr P11344	Morphology	R402Q	Homo sapiens human - (species)	Homo sapiens human - (species)	tyrosinase (TYR)	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Panthera leo lion - (species) D	Intraspecific	Association Mapping	Cho YS; Hu L; Hou H ; et al. (2013) The tiger genome and comparative analysis with lion and snow leopard genomes.	GP00001346	Tyr P11344	Morphology	c.260G>A p.Arg87Gln	Panthera leo lion - (species)	Panthera leo lion - (species) D	tyrosinase (TYR)	Panthera leo lion - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (skin; coat)	Coding, SNP	Equus asinus ass - (species) D	Intraspecific	Candidate Gene	Utzeri VJ; Bertolini F; Ribani A ; et al. (2016) The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation [...]	GP00001347	Tyr P11344	Morphology	c.604C>G p.His202Asp	Equus asinus ass - (species)	Equus asinus ass - (species) D	tyrosinase (TYR)	Equus asinus ass - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (skin; eye; freckles)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Wilde S; Timpson A; Kirsanow K ; et al. (2014) Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the l[...]	GP00001348	Tyr P11344	Morphology	c. C>A p.Ser192Tyr	Homo sapiens human - (species)	Homo sapiens human - (species) D	tyrosinase (TYR)	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (feathers)	Coding, Deletion	Gallus gallus chicken - (species) D	Domesticated	Candidate Gene	Tobita-Teramoto T; Jang GY; Kino K ; et al. (2000) Autosomal albino chicken mutation (ca/ca) deletes hexanucleotide (-deltaGACTGG817) at a copper-bindi[...]	GP00002308	Tyr P11344	Morphology	c.817_822del6 p.237-238delDW	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	tyrosinase (TYR)	Gallus gallus chicken - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (feathers)	Coding, Insertion	Gallus gallus chicken - (species) D	Domesticated	Candidate Gene	Chang CM; Coville JL; Coquerelle G ; et al. (2006) Complete association between a retroviral insertion in the tyrosinase gene and the recessive white m[...]	GP00002309	Tyr P11344	Morphology	insertion of a complete avian retroviral sequence in intron 4 causes aberrant transcripts lacking exon 5	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	tyrosinase (TYR)	Gallus gallus chicken - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, Deletion	Mustela putorius furo domestic ferret - (subspecies) D	Domesticated	Linkage Mapping	Blaszczyk WM; Distler C; Dekomien G ; et al. (2007) Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo).	GP00002310	Tyr P11344	Morphology	Deletion of exon 4 as detected by Southern Blot	Mustela putorius furo domestic ferret - (subspecies)	Mustela putorius furo domestic ferret - (subspecies) D	tyrosinase (TYR)	Mustela putorius furo domestic ferret - (subspecies)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, Indel	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Yu Y; Grahn RA; Lyons LA (2019) Mocha tyrosinase variant: a new flavour of cat coat coloration.	GP00002311	Tyr P11344	Morphology	c.820_936delinsAATCTC p.I274_L312delinsNL	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	tyrosinase (TYR)	Felis catus domestic cat - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, Deletion N	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Imes DL; Geary LA; Grahn RA ; et al. (2006) Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.	GP00002312	Tyr P11344	Morphology	a cytosine deletion in TYR at position 975 in exon 2 N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	tyrosinase (TYR)	Felis catus domestic cat - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP N	Felis catus domestic cat - (species) D	Domesticated	Candidate Gene	Abitbol M; Bossé P; Grimard B ; et al. (2017) Allelic heterogeneity of albinism in the domestic cat.	GP00002313	Tyr P11344	Morphology	c.1204C>T p.R402* N	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	tyrosinase (TYR)	Felis catus domestic cat - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (skin)	Coding, Deletion	Megaptera novaeangliae humpback whale - (species) D	Intraspecific	Candidate Gene	Polanowski AM; Robinson-Laverick SM; Paton D ; et al. (2012 Jan-Feb) Variation in the tyrosinase gene associated with a white humpback whale (Megaptera novaeangliae).	GP00002314	Tyr P11344	Morphology	(264 del C) at codon 88	Megaptera novaeangliae humpback whale - (species)	Megaptera novaeangliae humpback whale - (species) D	tyrosinase (TYR)	Megaptera novaeangliae humpback whale - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, Insertion N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Schmutz SM; Berryere TG; Ciobanu DC ; et al. (2004) A form of albinism in cattle is caused by a tyrosinase frameshift mutation.	GP00002315	Tyr P11344	Morphology	c.925_926insC N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	tyrosinase (TYR)	Bos taurus cattle - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Candidate Gene	Aigner B; Besenfelder U; Müller M ; et al. (2000) Tyrosinase gene variants in different rabbit strains.	GP00002316	Tyr P11344	Morphology	c.1118C>A p.T373K (also causes albinism in humans)	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	tyrosinase (TYR)	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Cavia porcellus domestic guinea pig - (species) D	Domesticated	Candidate Gene	Yu F; Jiao S; Lai W ; et al. (2018) Conserved aspartate-to-glycine mutation in tyrosinase is associated with albino phenotype in domesti[...]	GP00002317	Tyr P11344	Morphology	c.710A>G p.Asp237Gly	Cavia porcellus domestic guinea pig - (species)	Cavia porcellus domestic guinea pig - (species) D	tyrosinase (TYR)	Cavia porcellus domestic guinea pig - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Bubalus bubalis water buffalo - (species) D	Domesticated	Candidate Gene	Damé MC; Xavier GM; Oliveira-Filho JP ; et al. (2012) A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.	GP00002318	Tyr P11344	Morphology	c.1431G>A p.W477*	Bubalus bubalis water buffalo - (species)	Bubalus bubalis water buffalo - (species) D	tyrosinase (TYR)	Bubalus bubalis water buffalo - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Neovison vison American mink - (species) D	Domesticated	Candidate Gene	Anistoroaei R; Fredholm M; Christensen K ; et al. (2008) Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation.	GP00002319	Tyr P11344	Morphology	c.138T>A p.C46*	Neovison vison American mink - (species)	Neovison vison American mink - (species) D	tyrosinase (TYR)	Neovison vison American mink - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Neovison vison American mink - (species) D	Domesticated	Candidate Gene	Benkel BF; Rouvinen-Watt K; Farid H ; et al. (2009) Molecular characterization of the Himalayan mink.	GP00002320	Tyr P11344	Morphology	c.1835C>G p.H420Q	Neovison vison American mink - (species)	Neovison vison American mink - (species) D	tyrosinase (TYR)	Neovison vison American mink - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (skin)	Coding, SNP	Fejervarya kawamurai (species) D	Intraspecific	Candidate Gene	Miura I; Tagami M; Fujitani T ; et al. (2018) Spontaneous tyrosinase mutations identified in albinos of three wild frog species.	GP00002321	Tyr P11344	Morphology	c.169G>A p.Gly57Arg	Fejervarya kawamurai (species)	Fejervarya kawamurai (species) D	tyrosinase (TYR)	Fejervarya kawamurai (species)	Published - Accepted by Curator