| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3349T>C | p.Cys1117Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Disulfide bonds 1117-1129 (C1) | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0012 I250 | Proband | Male | de novo | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Asc. aortic dilatation | |
| C-Asc. aortic dilatation | |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | surgery |
| O-Ectopia lentis | |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-Chest deformity (unspecified) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Increased body length | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 26 | 8882780 | Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. "Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene". Am J Med Genet 1996 Mar 29;62(3):233-42 . |