Retinitis pigmentosa 1
Phenotype Details
- Phene ID
- 3894
- Name
- Retinitis pigmentosa 1
- Phene Name
- N/A
- OMIA ID
- 2029
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 611 | Retinitis pigmentosa 1 | 388160908 | 1 | 14 | g.22340665_22340666insA | N/A | p.(R791Kfs*13) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
| Charolais (Cattle) | 19 | 9913 | http://purl.obolibrary.org/obo/VBO_0000177 |
| Gelbvieh (Cattle) | 61 | 9913 | http://purl.obolibrary.org/obo/VBO_0000212 |
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Maine-Anjou (Cattle) | 96 | 9913 | http://purl.obolibrary.org/obo/VBO_0000286 |
| Normande (Cattle) | 367 | 9913 | http://purl.obolibrary.org/obo/VBO_0000322 |
| Red Angus (Cattle) | 176 | 9913 | http://purl.obolibrary.org/obo/VBO_0000350 |
| Swiss Fleckvieh (Cattle) | 1502 | 9913 | http://purl.obolibrary.org/obo/VBO_0000393 |
Molecular Genetics
Michot et al. (2016): "a one base pair insertion (Chr14: g.23995411_23995412insA) that affects the retinitis pigmentosa-1 gene (RP1) . . . [and] is predicted to cause a frameshift at codon 791 and to terminate the protein 13 amino acids later (p. R791KfsX13)".