| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3265delG | p.Ala1089ProfsX19 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCC | Ala | del1a | Fs. | Stop at 1107 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mutation(s) on the other allele: c.3260T>C |
| 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 |
| YE0100100011 | Proband | Male | YEMEN |
| Phenotypic group | Disease |
| TypeI | Usher |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 14 | 10364543 | Adato - Bonne-Tamir 1999 |