| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3725G>A | p.Cys1242Tyr | 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 #16 | Disulfide bonds 1242-1254 (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 F0055 I02 | Proband | NA | NA | ? (6 years old) | U.S.A |
| Phenotypic group | Disease |
| Type IV | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | bilateral |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Inguinal hernia | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 57 | 10486319 | Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. "Cysteine Substitutions in Epidermal Growth Factor-Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes". Am J Hum Genet 1999 Oct;65(4):1007-1020. |