Gephebase

Gephebase Search Results

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Your research retrieved 24 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
tyrosinase (TYR)	Coloration (albinism)	Coding, SNP 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.	GP00002357	Tyr P11344	Morphology; Physiology	G420R amino acid change which is identical to one identified in Caucasian human patients (G419R) http://www.ifpcs.org/albinism/oca1mut.html N	Sinocyclocheilus grahami (species)	Sinocyclocheilus anshuiensis (species) D	tyrosinase (TYR)	Sinocyclocheilus anshuiensis (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (amelanism)	Coding, Insertion N	Oryzias latipes Japanese medaka - (species) D	Domesticated	Candidate Gene	Koga A; Hori H (1997) Albinism due to transposable element insertion in fish.	GP00002372	Tyr P11344	Morphology	"i4 allele was found to contain a 4.7- kb transposable element in the 5th exon" "Tyr-i4 contains a 4.7-kb insertion in exon 5 (Fig. 3). If the inserted fragment was transcribed, the amino acid sequence would be altered after the 469th residue, with a termination codon (UAG) at amino acid position 471. The i4/i4 genotype exhibits a quasi-albino phenotype. This may be explained by generation of a tyrosinase protein that only lacks its C-terminus region. The wild-type tyrosinase has a highly hydrophobic amino acid block at its C terminus (aa 480 - aa 500) which is thought to be part of a membrane spanning domain (Inagaki et al., 1994). A possible explanation is that the mutant tyrosinase encoded by Tyr- i4 lacks this region, so that it cannot be positioned properly on the membrane" N	Oryzias latipes Japanese medaka - (species)	Oryzias latipes Japanese medaka - (species) D	tyrosinase (TYR)	Oryzias latipes Japanese medaka - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat; albinism)	Coding, Deletion N	Nyctereutes procyonoides viverrinus (subspecies) D	Intraspecific	Candidate Gene	Mae Y; Nagara K; Miyazaki M ; et al. (2020) Complex intragene deletion leads to oculocutaneous albinism in tanuki (Japanese raccoon dog).	GP00002374	Tyr P11344	Morphology	"We examined the structure and nucleotide sequence of TYR in an albino tanuki and found that the third exon was removed due to a deletion of approximately 11 kb. In addition, two nonsynonymous nucleotide substitutions were found in the fifth exon. These mutations are possible causes of the albino phenotype; however, the order of occurrence is unclear. Even if the 11-kb deletion was not the first of these mutations, it is considered to cause a total loss of the tyrosinase function because the third exon carries codons for one of the two copper-binding sites of tyrosinase and these sites are essential for the enzyme function. Intriguingly, the deletion was not a simple removal of an 11-kb segment: an internal portion was retained as a segment in the reverse orientation. We propose possible formation processes for this mutation that involve multiple DNA scission events, or an inversion followed by a deletion." N	Nyctereutes procyonoides viverrinus (subspecies)	Nyctereutes procyonoides viverrinus (subspecies) D	tyrosinase (TYR)	Nyctereutes procyonoides viverrinus (subspecies)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, SNP	Cervus elaphus red deer - (species) D	Intraspecific	Candidate Gene	Reiner G; Tramberend K; Nietfeld F ; et al. (2020) A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associat[...]	GP00002375	Tyr P11344	Morphology	"a non-synonymous mutation with exchange of a glycine residue at position 291 of the tyrosinase protein by arginine was identified as the cause of dilution of the coat colour" The mutation is on nucleotide 871 (G > A) but the exact codons are not specified in the paper.	Cervus elaphus red deer - (species)	Cervus elaphus red deer - (species) D	tyrosinase (TYR)	Cervus elaphus red deer - (species)	Published - Accepted by Curator