OMIA:000202-8409 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Pelophylax nigromaculatus
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 , Japanese wrinkled frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake , , golden hamster
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 three likely causal variants: c.1244_1245insT; c.768_769insT; c.682_684del3 (p.228delLys), each giving rise to an alleles for albinism.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||Pelophylax nigromaculatus||-||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|
|814||Albinism||TYR||insertion, small (<=20)||Naturally occurring variant||c.1244_1245insT||2018||28674275|
|816||Albinism||TYR||deletion, small (<=20)||Naturally occurring variant||c.682_684del||p.(L228del)||2018||28674275|
|815||Albinism||TYR||insertion, small (<=20)||Naturally occurring variant||c.768_769insT||2018||28674275|
|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.|
- Created by Frank Nicholas on 04 Sep 2017
- Changed by Frank Nicholas on 31 Mar 2020