| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.5C>T | p.Ala2Val |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCG | Ala | GTG | Val | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mismatch binding | 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) |
|---|---|---|
| 0.69 | 0.01 (pathogenous) | 70 (Probably pathogenous) |
| Sample ID | Patient status |
| 17_F02009__4806 | Relative |
| Symptom |
| Reference ID | Reference |
| 17 | Unpublished data |