| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1061A>G | p.Asp354Gly | Hemizygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| Asp | GGT | Gly | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like A | EGF-like A | Yes, non coding strand |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): EcoR V |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0 | - | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| D333G - MUNSTER 2 | Proband | Germ line | GERMANY |
| Phenotypic group | Disease |
| Homozygote | FH class 2B or 5 |
| Reference ID | Reference |
| 12 | Unpublished data |