| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1296G>C | p.Leu432Leu | Heterozygous | LIKELY NEUTRAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | CTC | Leu | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,RP,HD,CH | No | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Bsp1286 I, HgiA I Lost restriction site(s): BspW I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 18 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-MO21-L09L- | Proband | Female | 33 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |