| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5930G>A | p.Cys1977Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #30 | Disulfide bonds 1977-1989 (C1) | 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 F0004 I01 | Proband | Female | de novo | 4 years old | BELGIUM |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| CF-Blue sclerae |
| O-Ectopia lentis |
| O-Hypoplastic ciliary muscle->decreased miosis (m) |
| O-Myopia |
| O-Spherophakia |
| S-Arachnodactyly (M) |
| S-Characteristic facial appearance |
| S-Chest deformity (unspecified) |
| S-High arched palate |
| S-Joint hypermobility (m) |
| S-Long bone over growth |
| S-Protusio acetabulæ (M)(2) |
| 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. |