| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1005_1012del | p.Arg336X | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCA | Ala | del8c | Fs. | Stop at 336 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Motor domain |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Geographic origin |
| FR0132006371 | Proband | Male | SENEGAL |
| Phenotypic group | Disease |
| TypeI | Usher |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 25 | 16679490 | Roux - Claustres 2006 |