| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.825G>C | p.Arg275Ser | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | AGC | Ser | G->C | Tv |
| 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): Alu I Lost restriction site(s): Asp718, Csp6 I, Kpn I, Rsa 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 |
| 04-GA18-L01U- | Relative | Male |
| Phenotypic group | Disease |
| asymptomatic | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |