| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3131G>A | p.Cys1044Tyr | 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 |
| cb EGF-like #11 | Disulfide bonds 1032-1044 (C3) | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS01NAD F0015 I01 | Proband | NA | NA | ? (7 years old) | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Infantil MFS |
| Symptom |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| S-Characteristic facial appearance |
| S-Joint hypermobility (m) |
| S-Pectus excavatum moderate (m)(1) |
| S-Plain pes planus (M)(1) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 138 | 16222666 | Summers KM, Nataatmadja M, Xu D, West MJ, McGill JJ, Whight C, Colley A, Ades LC. "Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome". Am J Med Genet A. 2005 Nov 15;139(1):2-8. |