OMIA 000202-1772025 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Fejervarya kawamurai

In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , Japanese medaka , American mink , humpback whale , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , lion , Mongolian gerbil , red fox , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake

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

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 of albinism as c.169G>A; p.Gly57Arg

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Albinism TYR missense c.169G>A p.(G57R) 2018 28674275

Reference


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