| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1736A>G | p.Asp579Gly | Heterozygous | 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, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Hinf I |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0 | - | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| Asp579Gly | Proband | FRANCE |
| Phenotypic group | Disease |
| Heterozygote |
| Reference ID | PubMed ID | Reference |
| 258 | 20809525 | Marduel M, Carri* A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network, Boileau C, Varret M, Rab*s JP. Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat. 2010;31(11) :E1811-24. |