| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3746G>C | p.Cys1249Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TCT | Ser | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #16 | Disulfide bonds 1249-1263 (C2) | 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) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0003 I04 | Proband | Female | de novo | in childhood | U.S.A |
| Phenotypic group | Disease |
| Type IV | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Dolichostenomelia | |
| S-Long bone over growth | |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 2 | 1301946 | Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. "Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains". Hum Mutat 1992;1(5):366-74 . |