| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6920G>C | p.Cys2307Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TCC | Ser | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like#36 | Disulfide bonds 2295-2307 (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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0006 I01 | Proband | Female | familial | ? (53 years old) | U.S.A |
| Phenotypic group | Disease |
| Type IV d | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Asc. aortic dissection |
| C-Mitral valve prolapse |
| S-Arachnodactyly (M) |
| S-Dolichostenomelia |
| S-Increased body length |
| S-Joint hypermobility (m) |
| S-Long bone over growth |
| S-Pectus carinatum (M)(2) |
| S-Pectus excavatum moderate (m)(1) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 3 | 1569206 | Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. "Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene". J Clin Invest 1992 May;89(5):1674-80 . |