| 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 |
| ITA01FLO F0070 I01 | Proband | NA | de novo | (44 years old) | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 44 |
| C-Asc. aortic dissection | 44 |
| C-Mitral valve prolapse | 44 |
| CNS-Lumbosacral dural ectasia | 44 |
| O-Myopia | 44 |
| S-Arachnodactyly (M) | 44 |
| S-Arm span/height >1.05 (M) | 44 |
| S-Pectus carinatum (M)(2) | 44 |
| SI-Significant striae atrophicae (m)(1) | 44 |
| Reference ID | PubMed ID | Reference |
| 146 | 18435798 | Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani MC, Fattori R, Anichini C, Abbate R, Gensini GF, Pepe G. "FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations". Clin Genet. 2008 Jul;74(1):39-46. |