| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2061C>G | p.Leu687Leu |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTC | Leu | CTG | Leu | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ATPase | Yes, 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) |
|---|---|---|
| 1 | 1.00 (non pathogenous) | 18 (Polymorphism) |
| Sample ID | Patient status |
| 8_42084_8101922_08-469190 | Relative |
| Symptom |
| Reference ID | Reference |
| 8 | Unpublished data |