| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.691C>T | p.Arg231Cys | homozygous |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | TGT | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| HhH & pseudo-HhH | Yes, coding strand | 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 | 0.07 (non pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status |
| SO_-744G01509G01509 | Relative |
| Symptom |
| Reference ID | Reference |
| 71 | Unpublished data |