| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.824G>A | p.Arg275Lys | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | AAG | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm,NM,NMH,FA,HD | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Asp718, Kpn I |
| 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-BU09-D15M- | Proband | Female | 48 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |