| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.3949G>C | p.Glu1317Gln |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | CAA | Gln | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Pvu II |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.75 | 0.49 (non pathogenous) | 29 (Polymorphism) |
| Sample ID | Patient status |
| 2_02-ACT2008_14897_14897 | Proband |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |