| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6381T>A | p.Asp2127Glu | Heterozygous | Polymorphism? |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | GAA | Glu | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #32 | Ca2+ binding | No | No |
| At the mRNA level | On restriction map |
| Not tested on cDNA (needed) | 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) | 65 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0009 I01 | Proband | Male | familial | ? (33 years old) | FINLAND |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom |
| C-Asc. aortic dilatation |
| 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 . |