| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.948A>T | p.Glu316Asp | Heterozygous | UV |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | GAT | Asp | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NF,NM,RP,FA,HD | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Bcl I, Dpn I, Dpn II, Mbo I, Sau3A I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 29 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-OT08-J15S- | Relative | Female |
| Phenotypic group | Disease |
| asymptomatic | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |