| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3217G>A | p.Glu1073Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | AAA | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding | Yes, non coding strand | Yes |
| 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) | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS02WES F0064 I01 | Proband | Male | NA | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | moderate | 0,37 |
| C-Mitral regurgitation | 0,37 | |
| C-Mitral valve prolapse | 0,37 | |
| C-Tricuspid valve prolapse | 0,37 | |
| CF-Blue sclerae | 0,83 | |
| CF-Deep set eyes | 0,83 | |
| CF-Down-slanting palpebral fissures | 0,83 | |
| CF-Skull deformity | 0,83 | |
| O-Astigmatism | 0,41 | |
| O-Ectopia lentis | 0,41 | |
| O-Iridodonesis | 0,83 | |
| O-Myopia >3 diopters (1) | severe | 0,41 |
| O-Spherophakia | 0,41 | |
| S-High arched palate | 0,83 | |
| S-Joint hypermobility (m) | 0,83 | |
| S-Muscular hypotonia | 0,83 | |
| S-Pectus excavatum moderate (m)(1) | 0,83 | |
| SI-Translucent skin | 0,83 |
| 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. |