| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1379A>C | p.Glu460Ala |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | GCG | Ala | A->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 interaction | 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) |
|---|---|---|
| 0.73 | 0.76 (non pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient status |
| 31_H1588H1588-1H1588-1A | Relative |
| Symptom |
| Reference ID | Reference |
| 31 | Unpublished data |