| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.871A>T | p.Asn291Tyr |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | TAC | Tyr | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 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) |
|---|---|---|
| 0.93 | 0.03 (pathogenous) | 57 (Probable polymorphism) |
| Sample ID | Patient status |
| 37_L14.21313709166713 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |