| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.518T>G | p.Leu173Arg |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTA | Leu | CGA | Arg | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Connector | 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) |
|---|---|---|
| 0.98 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status |
| 37_L09.038_9519_83445 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |