| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1259T>G | p.Ile420Ser | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATC | Ile | AGC | Ser | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Pem,NM,RP,HD,CH | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Alu I, Fnu4H I, NspB II, Pvu II Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-PU12-L01U- | Proband | Female | 49 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |