| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5417G>A | p.Cys1806Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #25 | Disulfide bonds 1793-1806 (C6) | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0015 I09 | Proband | Female | familial | 12 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| no clinical data |
| O-Ectopia lentis |
| S-Dolichostenomelia |
| S-Joint hypermobility (m) |
| S-Pectus carinatum (M)(2) |
| Reference ID | PubMed ID | Reference |
| 107 | 12402346 | Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. "Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations". Hum Mutat. 2002 Nov;20(5):406-7. |