| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.949G>A | p.Glu317Lys |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | AAG | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| APE1 binding site | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.7 | 0.95 (non pathogenous) | 47 (Polymorphism) |
| Sample ID | Patient status |
| 37_F07.1186350--- | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |