| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.376G>A | p.Gly126Ser |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | AGC | Ser | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Connector | 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) |
|---|---|---|
| 0.96 | 0.00 (pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status |
| 31_H532_H532-1_H532-1A | Relative |
| Symptom |
| Reference ID | Reference |
| 31 | Unpublished data |