| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6354C>T | p.Ile2118Ile | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATC | Ile | ATT | Ile | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| Skipping of exon 51, in frame | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 1.00 (non pathogenous) | 18 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0011 I01 | Proband | Female | NA | ? (43 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Chest deformity (unspecified) |
| S-Dolichostenomelia |
| S-High arched palate |
| S-Protusio acetabulæ (M)(2) |
| S-Scoliosis > 20° (M)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 42 | 9241263 | Liu W, Qian C, Francke U. "Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome". Nat Genet 1997 Aug;16(4):328-9 . |