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||-||no genomic information (-..-)||TYR||Homologene, Ensembl, NCBI gene|
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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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Coat colour, albinism||TYR||missense||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