| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2305T>C | p.Cys769Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #08 | Disulfide bonds 769-781 (C1) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Afl III, Mae II Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD07WIL F0016 I0001 | Proband | Female | de novo | U.K. |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dissection | 19 |
| C-Mitral regurgitation | 19 |
| C-Mitral valve prolapse | 19 |
| O-Ectopia lentis | 19 |
| S-Incomplete description | 19 |
| Reference ID | PubMed ID | Reference |
| 157 | 17627385 | Howarth R, Yearwood C, Harvey JF. "Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory". Genet Test. 2007 Summer;11(2):146-52. |