| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2058G>C | p.Trp686Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | TGC | Cys | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| r.2170_2286del | New restriction site(s): Bsp1286 I, HgiA I Lost restriction site(s): none |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0 | - | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CS683VI | Proband | U.S.A. |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | Reference |
| 0 | Unpublished data |