| 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 |
| FRA01BOU F0173 I0212 | Proband | Male | de novo | FRANCE |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| O-Ectopia lentis | bilateral |
| O-Flat cornea (<42 dp) (m) | bilateral |
| S-Arachnodactyly (M) | |
| S-Crowding teeth (m) | |
| S-Dolichostenomelia | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| S-Pectus excavatum moderate (m)(1) | |
| S-Plain pes planus (M)(1) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| S-Scoliosis > 20° (M)(1) | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 145 | 19293843 | Stheneur C, Collod-B*roud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. "Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene". Eur J Hum Genet. 2009 Sep;17(9):1121-8. |