| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2271C>T | p.Tyr757Tyr |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TAT | Tyr | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ATPase | 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) |
|---|---|---|
| 0.99 | 1.00 (non pathogenous) | 18 (Polymorphism) |
| Sample ID | Patient status |
| 7_7797 (07045)7966E071579 | Relative |
| Symptom |
| Reference ID | Reference |
| 7 | Unpublished data |