| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7729T>C | p.Cys2577Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #41 | Disulfide bonds 2577-2590 (C2) | Yes, coding strand | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0003 I01 | Proband | Male | de novo | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | surgery |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| CF-Blue sclerae | |
| L-Spontaneous pneumothorax | |
| O-Cataract | |
| O-Ectopia lentis | bilateral |
| O-Glaucoma | |
| O-Myopia | early |
| S-Arachnodactyly (M) | |
| S-Crowding teeth (m) | |
| S-Dolichostenomelia | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Significant striae atrophicae (m)(1) | |
| SI-Skin hyperextensibility | |
| SI-Tendency to ecchymosis |
| 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 . |