| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3386G>A | p.Cys1129Tyr | 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 #13 | Disulfide bonds 1117-1129 (C3) | 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) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0008 I01 | Proband | Female | de novo | ? (20 years old) | GERMANY |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| Reference ID | PubMed ID | Reference |
| 66 | 10425041 | Abd El-Aleem A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. "Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome". Hum Mutation 1999 Aug 19;14(2):181. |