| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6695G>A | p.Cys2232Tyr | 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 #34 | Disulfide bonds 2232-2245 (C5) | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA01FLO F0002 I02 | Proband | Female | de novo | 36 years old | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | severe |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| O-Myopia >3 diopters (1) | severe |
| S-Arachnodactyly (M) | |
| S-Increased body length | |
| S-Kyphosis | |
| S-Pectus carinatum (M)(2) | |
| S-Plain pes planus (M)(1) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| S-Scoliosis > 20° (M)(1) |
| 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 . |