| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.649T>G | p.Trp217Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | GGG | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Bcn I, Hpa II, Msp I, Nci I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0006 I01 | Proband | Male | familial | ? | FINLAND |
| Phenotypic group | Disease |
| Type II | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| O-Ectopia lentis |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Increased body length |
| S-Long bone over growth |
| S-Pectus carinatum (M)(2) |
| 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 . |