| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1244A>G | p.Asp415Gly | 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 precursor like | Yes, coding strand |
| At the mRNA level | On restriction map |
| New restriction site(s): Hae III 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 |
| D394G - PADOVA 3 | Proband | Germ line | ITALIA |
| Phenotypic group | Disease |
| Reference ID | PubMed ID | Reference |
| 165 | 10978268 | Bertolini S, Cantafora M, Averna C et al. (2000) "Clinical Expression of Familial Hypercholesterolemia in Clusters of Mutations of the LDL Receptor Gene that Cause a Receptor-Defective or Receptor-Negative Phenotype". Arterioscler Thromb Vasc Biol, 20 : e41-e52. |