| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1144C>T | p.Arg382Cys |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | TGT | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 stabilization | Yes, coding strand | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status |
| 4_JCS0407_17809_1093 | Relative |
| Symptom |
| Reference ID | Reference |
| 4 | Unpublished data |