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
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
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
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