OMIA 000202-9793 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Equus asinus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||tyrosinase||Equus asinus||20||NC_052196.1 (58133230..58039511)||TYR||Homologene, Ensembl, NCBI gene|
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.
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|
|151||Coat colour, albinism||TYR||missense||Naturally occurring variant||c.604C>G||p.(H202D)||2016||26763160|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2016||Utzeri, V.J., Bertolini, F., Ribani, A., Schiavo, G., Dall'Olio, S., Fontanesi, L. :|
|The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein. Anim Genet 47:120-4, 2016. Pubmed reference: 26763160. DOI: 10.1111/age.12386.|
|1964||Colombani, B. :|
|A case of total albinism in a Sardinian ass Annali della Facolta di Medicina Veterinaria Universita di Pisa 16:76-81, 1964.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 02 Jun 2016