| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.943G>A | p.Val315Met | --- |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | ATG | Met | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| APE1 binding site | APE1 core motif (SGXXDV) | No | Yes |
| 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) |
|---|---|---|
| 0.71 | 0.14 (non pathogenous) | 59 (Probable polymorphism) |
| Sample ID | Patient status |
| 37_P13.2323421152210/152212 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |