| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3260T>C | p.Leu1087Pro | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | CCG | Pro | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, coding strand | No |
| Mutation(s) on the other allele: c.3265delG |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Alu I, Pst I, Sfe I |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 1 | 0.02 (pathogenous) | 75 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Geographic origin |
| YE0100100011 | Proband | Male | YEMEN |
| Phenotypic group | Disease |
| TypeI | Usher |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 13 | 10425080 | Cuevas - Najera 1999 |