| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.721C>G | p.Arg241Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | GGT | Gly | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Motor domain | No | No |
| Mutation(s) on the other allele: c.6025delG |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Mae II, Mae III, Pml I |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0,94 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Geographic origin |
| SP01126900010 | Proband | Female | ITALIA |
| Phenotypic group | Disease |
| TypeI | Usher |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 30 | 17361009 | Jaijo - Millan 2007 |