| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6453C>G | p.Cys2151Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGG | Trp | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #32 | Disulfide bonds 2137-2151 (C4) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): BsiY I Lost restriction site(s): Fnu4H I |
| 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 |
| FIN01HEL F0010 I01 | Proband | Male | familial | ? (17 years old) | FINLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Chest deformity (unspecified) |
| S-Increased body length |
| Reference ID | PubMed ID | Reference |
| 10 | 8136837 | Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. "Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome". Nat Genet 1994 Jan;6(1):64-9 . |