| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3302A>G | p.Tyr1101Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TGT | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | conserved AA in cbEGF-like | 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 |
| AUS02WES F0063 I01 | Proband | Male | de novo | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 6 | |
| C-Mitral valve prolapse | 6 | |
| CF-Bifid/broad uvula | 10 | |
| CF-Broad nasal bridge | 10 | |
| CF-Malar hypoplasia | 10 | |
| CF-Proptosis | 10 | |
| CF-Retrognathia | 10 | |
| CF-Scaphocephaly | ||
| CF-Skull deformity | ||
| O-Ectopia lentis | bilateral | 6 |
| O-Myopia | 6 | |
| S-Arachnodactyly (M) | 6 | |
| S-Crowding teeth (m) | 10 | |
| S-Dolichostenomelia | 10 | |
| S-High arched palate | 6 | |
| S-Increased body length | 10 | |
| S-Joint hypermobility (m) | 10 | |
| S-Pectus carinatum (M)(2) | 6 | |
| S-Scoliosis > 20° (M)(1) | 17 | |
| SI-Inguinal hernia | bilateral |
| Reference ID | PubMed ID | Reference |
| 142 | 16596670 | Ades LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J and others. "FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited". Am J Med Genet, 2006. 140(10):1047-58. |