| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5242T>C | p.Cys1748Arg | 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 |
| TGFBP#05 | C in disulfide bonds 1721-1748 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BsaJ I, Dsa I 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 |
| USA05HOU F0025 I0001 | Proband | Male | NA | U.S.A. |
| Phenotypic group | Disease |
| NA | Weil-Marchesani |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 38 | |
| C-Asc. aortic dissection | surgery | 38 |
| C-Desc. aortic dilatation (thor or abdo) | 38 | |
| C-Desc. aortic dissection (thor. or abdo.) | surgery | 38 |
| O-Ectopia lentis | 4 | |
| O-Iridodonesis | 9 | |
| O-Lens extraction | 4 | |
| O-Myopia >3 diopters (1) | 4 | |
| O-Spherophakia | bilateral | 4 |
| S-Crumpled ears | 38 | |
| S-High arched palate | 38 | |
| S-Joint limitations | toes | 38 |
| S-Reduced extension of the elbows (<170°)(M)(1) | 38 | |
| S-Short stature | ||
| SI-Other herniae | 9 | |
| SI-Significant striae atrophicae (m)(1) | 38 | |
| SI-Stiff skin | 38 |
| Reference ID | PubMed ID | Reference |
| 255 | 23897642 | Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM. "Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome". Am J Med Genet A. 2013 Sep;161(9):2305-10. |