| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1426T>G | p.Cys476Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | GGC | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | Disulfide bonds 476-488 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BsiY I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0012 I01 | Proband | NA | familial | ? | U.S.A |
| Phenotypic group | Disease |
| Type IV | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | moderate |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| S-Arachnodactyly (M) | |
| S-High arched palate | |
| S-Increased body length | |
| S-Pectus carinatum (M)(2) |
| Reference ID | PubMed ID | Reference |
| 11 | 7951214 | Piersall LD, Dietz HC, Hall BD, Cadle RG, Pyeritz RE, Francomano CA, McIntosh I. "Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred". Hum Mol Genet 1994 Jun;3(6):1013-4 . |