| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.38T>G | p.Leu13Arg | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | CGG | Arg | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, NM, RP | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): BstU I, Dsa I, Hae II, Sac II Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-CO18-M01R- | Proband | Male | 50 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |