| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1360G>C | p.Gly454Arg |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | CGG | Arg | G->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) |
|---|---|---|
| 0.47 | 0.53 (non pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status |
| 4_13_17487_ | Relative |
| Symptom |
| Reference ID | Reference |
| 4 | Unpublished data |