| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2276G>T | p.Cys759Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TTC | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Laminin EGF-like 5 | No | No |
| Mutation(s) on the other allele: c.IVS10-2A>G (c.1841-2A>G) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 1 | 0.00 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Geographic origin |
| SP0211200011 | Proband | Male | SPAIN |
| Phenotypic group | Disease |
| nonsyndromic | RP |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 10 | 12525556 | Bernal - Baiget 2003 |