| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2099A>G | p.Asp700Gly | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | GGC | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like C | EGF-like C | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Ava I, Bcn I, Nci I, Sma I, Xma I Lost restriction site(s): none |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0 | - | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| Asp700Gly | Proband | SPAIN |
| Phenotypic group | Disease |
| Reference ID | Reference |
| 195 | Unpublished data |