| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2668T>C | p.Cys890Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | CGC | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid motif #02 | 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) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FIN01HEL F0017 I01 | Proband | Male | familial | 45 years old | 45 years old | FINLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Aortic insufficiency |
| C-Asc. aortic dilatation |
| C-Congestive heart failure |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| S-Arachnodactyly (M) |
| S-Arm span/height >1.05 (M) |
| S-Joint hypermobility (m) |
| S-Reduced US/LS ratio <0.87 (M) |
| Reference ID | PubMed ID | Reference |
| 45 | 7622614 | Kielty CM, Rantamaki T, Child AH, Shuttleworth CA, Peltonen L. "Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly". Cell Sci 1995 Mar;108 ( Pt 3):1317-23 . |