| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5004C>G | p.Tyr1668X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TAG | Stop | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| SH3 | 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): Csp6 I, Mae II, Rsa I |
| Sample ID | Patient status | Gender | Transmission | Geographic origin |
| FR0157014970 | Proband | Female | FRANCE |
| Phenotypic group | Disease |
| TypeI | Usher |
| Symptom |
| Reference ID | Reference |
| 1 | Unpublished data |