| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3202T>G | p.Cys1068Gly | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | GGC | Gly | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Disulfide bonds 1055-1068 (C6) | Yes, coding strand | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CAN01TOR F0004 I0001 | Proband | Female | NA | SOMALIA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | moderate |
| C-Mitral regurgitation | |
| C-Mitral valve prolapse | |
| CF-Deep set eyes | |
| CF-Dolichocephaly | |
| CF-Down-slanting palpebral fissures | |
| CF-Retrognathia | |
| O-Ectopia lentis | |
| S-Arachnodactyly (M) | |
| S-Characteristic facial appearance | |
| S-High arched palate | |
| S-Joint limitations | |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 214 | 20803651 | Barnett CP, Wilson GJ, Chiasson DA, Gross GJ, Hinek A, Hawkins C, Chitayat D. "Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene". Am J Med Genet A. 2010 Sep;152A(9):2409-12. |