| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7988G>C | p.Cys2663Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TCT | Ser | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #43 | Disulfide bonds 2652-2663 (C3) | 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) |
|---|---|---|
| 1 | 0.48 (non pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP06HIR F0003 I0001 | Proband | NA | familial | 41 years old | JAPAN |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| C-Asc. aortic dissection |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| S-Arachnodactyly (M) |
| S-Pectus excavatum moderate (m)(1) |
| SI-Significant striae atrophicae (m)(1) |
| Reference ID | PubMed ID | Reference |
| 119 | 15221638 | Uyeda T, Takahashi T, Eto S, Sato T, Xu G, Kanezaki R, Toki T, Yonesaka S, Ito E. "Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients". J Hum Genet. 2004;49(8):404-7. |