| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5084G>A | p.Cys1695Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TAC | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | C in disulfide bonds 1695-1719 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Csp6 I, Rsa 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 F0026 I0002 | Relative | Female | NA | U.S.A. |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity | Age |
| CF-Dolichocephaly | 54 | |
| CF-Malar hypoplasia | 54 | |
| S-Characteristic facial appearance | 54 | |
| S-Enophthalmos (m) | 54 | |
| S-High arched palate | 54 | |
| S-Joint dislocation | hip | 7 |
| S-Joint hypermobility (m) | 7 | |
| S-Joint limitations | fingers | 54 |
| S-Plain pes planus (M)(1) | 54 | |
| SI-Significant striae atrophicae (m)(1) | 54 |
| 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. |