| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2099A>C | p.Asp700Ala |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | GCC | Ala | A->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM6 | 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) |
|---|---|---|
| 0.94 | 0.02 (pathogenous) | 87 (Pathogenous) |
| Sample ID | Patient status |
| 19_12394---12394.003 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |