| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4037T>G | p.Phe1346Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTC | Phe | TGC | Cys | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Hind III |
| 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 |
| POR01POR F0004 I0002 | Relative | Female | familial | PORTUGAL |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 31 |
| 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. |