| 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 F0002 I01 | Proband | Female | de novo | at birth | CANADA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Mitral valve prolapse |
| CF-Down-slanting palpebral fissures |
| S-Arachnodactyly (M) |
| S-High arched palate |
| S-Joint limitations |
| S-Muscular hypotonia |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 123 | - | Lo B, Maegawa GB, Satodia P, Whyte H, Sermer M, Hutchinson J, Wilson G, Gross G, Matyas G, Hinek A, Unger S, Chitayat D. "Neonatal Marfan syndrome: Report of two cases with unusual clinical findings". Am J Hum genet, 2004, October 26-30, Toronto, Canada, abstract 580. |