| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7897T>C | p.Cys2633Arg | 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 #42 | Disulfide bonds 2633-2646 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Sph I Lost restriction site(s): none |
| 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 |
| CAN03HAM F0001 I0002 | Relative | Male | familial | CANADA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| C-Aortic dilatation (unspecified) | 29 |
| C-Mitral valve prolapse | |
| CF-Down-slanting palpebral fissures | |
| CF-Enophthalmos | |
| CF-Retrognathia | |
| S-Arm span/height >1.05 (M) | |
| S-Pectus carinatum (M)(2) | |
| S-Reduced extension of the elbows (<170°)(M)(1) | |
| S-Reduced US/LS ratio <0.87 (M) | |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 276 | 24504995 | Stevic I, Kozenko M, Lostracco R, Chan AK, Chan HH. "Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)". Biochem Genet. 2014 Jun;52(5-6):225-32. |