| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3350G>A | p.Cys1117Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Disulfide bonds 1117-1129 (C1) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none 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 |
| USA03STA F0002 I783 | Proband | Female | NA | U.S.A |
| Phenotypic group | Disease |
| Type IV d | Classical MFS |
| Symptom | Severity |
| C-Aortic insufficiency | surgery |
| C-Asc. aortic dilatation | surgery |
| C-Mitral regurgitation | surgery |
| C-Mitral valve prolapse | |
| CNS-Lumbosacral dural ectasia | |
| O-Cataract | |
| O-Ectopia lentis | |
| S-Arachnodactyly (M) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Long bone over growth | |
| S-Plain pes planus (M)(1) | |
| S-Scoliosis > 20° (M)(1) | surgery |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 12 | 8281141 | Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U. "Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains". Hum Mol Genet 1993 Nov;2(11):1813-21 . |