OMIA:000202-8410 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Glandirana rugosa

In other species: domestic cat , taurine cattle , dog , rabbit , water buffalo , ass (donkey) , Japanese medaka , American mink , humpback whale , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake , ocelot gecko , golden hamster , American bison , Rhesus monkey , four-striped grass mouse

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 (trait) , 606952 (trait) , 606933 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA), Acromelanism and as the Himalayan coat-colour pattern

Molecular basis: Miura et al. (2018) reported a likely causal variant for albinism as c.1127G>A; p.Gly376Asp

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Glandirana rugosa - no genomic information (-..-) TYR Ensembl


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
813 Albinism TYR missense Naturally occurring variant c.1127G>A p.(G376D) 2018 28674275

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000202-8410: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2018 Miura, I., Tagami, M., Fujitani, T., Ogata, M. :
Spontaneous tyrosinase mutations identified in albinos of three wild frog species. Genes Genet Syst 92:189-196, 2018. Pubmed reference: 28674275 . DOI: 10.1266/ggs.16-00061.

Edit History

  • Created by Frank Nicholas on 04 Sep 2017
  • Changed by Frank Nicholas on 04 Sep 2017
  • Changed by Frank Nicholas on 31 Mar 2020