| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1916A>T | p.His639Leu |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAT | His | CTT | Leu | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ATPase | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status |
| 2_02-ACT2613_18320_18320 | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |