| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.439G>C | p.Asp147His |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | CAC | His | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| HhH & pseudo-HhH | 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) |
|---|---|---|
| 0.98 | 0.01 (pathogenous) | 70 (Probably pathogenous) |
| Sample ID | Patient status |
| 33_SAT32108-750--- | Relative |
| Symptom |
| Reference ID | Reference |
| 33 | Unpublished data |