| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6662G>C | p.Cys2221Ser | 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 #34 | Disulfide bonds 2210-2221 (C3) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Dpn I, Dpn II, Mbo I, Sau3A I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0005 I06 | Proband | Male | de novo | in early childhood | U.S.A |
| Phenotypic group | Disease |
| Type IV d | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Dolichostenomelia |
| S-Joint hypermobility (m) |
| S-Long bone over growth |
| S-Scoliosis > 20° (M)(1) |
| 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 . |