| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4472G>T | p.Cys1491Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TTC | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #22 | Disulfide bonds 1491-1502 (C1) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): EcoR I, Xmn 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 |
| POR01POR F0009 I0001 | Proband | Male | de novo | PORTUGAL |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 56 |
| Reference ID | PubMed ID | Reference |
| 224 | 22005308 | Lebreiro A, Martins E, Cruz C, Almeida J, Pimenta S, Bernardes M, Carlos Machado J, Jœlia Maciel M, Abreu-Lima C. [Genotypic characterization of a Portuguese population of Marfan syndrome patients]. Rev Port Cardiol. 2011 Jul;30(7-8):649-54. |