| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4987T>C | p.Cys1663Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #24 | Disulfide bonds 1652-1663 (C3) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Mae II Lost restriction site(s): Nla III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0004 I05 | Proband | Male | NA | U.S.A |
| Phenotypic group | Disease |
| Type III | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | surgery |
| C-Mitral valve prolapse | |
| O-Ectopia lentis | |
| O-Myopia | |
| S-Arachnodactyly (M) | |
| S-Chest deformity (unspecified) | |
| S-Dolichostenomelia | |
| S-Joint hypermobility (m) | |
| S-Long bone over growth | |
| S-Plain pes planus (M)(1) | |
| S-Scoliosis > 20° (M)(1) | surgery |
| SI-Inguinal hernia | |
| SI-Significant striae atrophicae (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 . |