| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2606C>A | p.Ala869Glu |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCA | Ala | GAA | Glu | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Helix-turn-helix | No | 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) |
|---|---|---|
| 0.85 | 1.00 (non pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient status |
| 19_6990_6990-001_6990-001 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |