| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2237G>T | p.Gly746Val |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | GTC | Val | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM7 | 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) |
|---|---|---|
| 0.94 | 0.03 (pathogenous) | 81 (Pathogenous) |
| Sample ID | Patient status |
| 20_1192-01---3863 | Relative |
| Symptom |
| Reference ID | Reference |
| 20 | Unpublished data |