| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3217G>A | p.Glu1073Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | AAA | Lys | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #12 | Ca2+ binding | Yes, non coding strand | Yes |
| 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) | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0092 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Age |
| C-Dilation or dissection of asc. aorta | 2 |
| Reference ID | PubMed ID | Reference |
| 121 | 15241795 | Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A. "Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome". Hum Mutat. 2004 Aug;24(2):140-6. |