Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related
- Phene ID
- 419
- Name
- Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related
- Phene Name
- N/A
- OMIA ID
- 202
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2004
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| TYR | 280951 | 29 | tyrosinase |
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 589 | Coat colour, albinism, oculocutaneous | 280951 | 0 | 29 | NC_037356.1:g.6424971_6424972insG | NM_181001.3:c.925_926insC | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
See also OMIA:002280-9913 : Coat colour, albinism, generic in Bos taurus (taurine cattle). Some refrences for albinism in cattle that have not been confirmed to be due to TYR variants have been moved to the generic entry [09/09/2025].
By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in other species), Schmutz et al. (2004) showed that albinism in a family of Braunvieh cattle is due to a base insertion (926-927insC, omia.variant:589) in the tyrosinase (TYR) gene, causing a frameshift that results in premature termination at residue 316, compared with the normal peptide of 517 amino-acids.
Jacinto et al. (2025) used "a trio-based whole-genome sequencing approach" to identify "a likely pathogenic missense variant in TYR (NP_851344.1:p.Pro428Leu)" (omia.variant:1830) in an affected Simmental calf with oculocutaneous albinism.