| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3220T>C | p.Cys1074Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Disulfide bonds 1074-1086 (C1) | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0003 I01 | Proband | NA | de novo | at birth | 9,5 weeks | FINLAND |
| Phenotypic group | Disease |
| ECM incorporation | Neonatal MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Congestive heart failure |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| O-Microphthalmus |
| S-Abnormal ears |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Dolichostenomelia |
| S-Joint hypermobility (m) |
| S-Joint limitations |
| S-Pectus carinatum (M)(2) |
| SI-Loose, redundant skin |
| 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 . |