| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3546C>G | p.Cys1182Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGG | Trp | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #14 | Disulfide bonds 1182-1195 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BstK I, Dsa V, Nla IV, ScrF I Lost restriction site(s): BstN I, EcoR II |
| 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 |
| ITA01FLO F0001 I03 | Proband | Male | familial | before 3 months | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| CF-Blue sclerae | |
| CF-Dolichocephaly | |
| O-Ectopia lentis | |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-High arched palate | |
| S-Joint hypermobility (m) | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Significant striae atrophicae (m)(1) | |
| SI-Tendency to ecchymosis | |
| SI-Translucent skin |
| Reference ID | PubMed ID | Reference |
| 50 | 9236141 | Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani MC, Giurlani L, Montesi GF, Calamai GC, Vaccari M, Favilli S, Abbate R, Gensini GF. "A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene". Mol Cell Cardiol 1997 Jul;29(7):1877-84 . |