| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.143T>C | p.Leu48Pro | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | CCG | Pro | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm, NM | Yes, coding strand | No |
| Other variation(s) reported for this sample: c.1502_1510del |
| At the mRNA level | On restriction map |
| New restriction site(s): Hpa II, Msp I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 59 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-PE19-P18I- | Relative | Female | 18 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |