| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1794C>G | p.Cys598Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGG | Trp | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #05 | Disulfide bonds 598-611 (C5) | 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) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0006 I01 | Proband | Female | familial | ? (15 years old) | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Desc. aortic dilatation (thor or abdo) |
| C-Mitral valve prolapse |
| CNS-Lumbosacral dural ectasia |
| O-Ectopia lentis |
| O-Iridodonesis |
| O-Lens extraction |
| O-Strabismus |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-Dolichostenomelia |
| S-Foot deformity |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Long bone over growth |
| S-Reduced US/LS ratio <0.87 (M) |
| S-Scoliosis > 20° (M)(1) |
| S-Valgus elbow |
| SI-Loose, redundant skin |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 89 | 11700157 | Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. "Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome". Arch Intern Med. 2001 Nov 12;161(20):2447-54. |