| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1004C>A | p.Thr335Asn |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACC | Thr | AAC | Asn | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Lever | 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) |
|---|---|---|
| 0.99 | 0.00 (pathogenous) | 59 (Probable polymorphism) |
| Sample ID | Patient status |
| 19_2481024810-00124810-001 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |