| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7741T>A | p.Cys2581Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | AGC | Ser | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #41 | Disulfide bonds 2571-2581 (C3) | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET03LEI F0003 I0001 | Proband | Female | NA | NETHERLAND |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 7,5 | |
| C-Mitral valve prolapse | mild | 7,5 |
| C-Tricuspid valve prolapse | 7,5 | |
| S-Joint hypermobility (m) | 7,5 |
| Reference ID | PubMed ID | Reference |
| 270 | 18354149 | Hilhorst-Hofstee Y, Kroft LJ, Pals G, van Vugt JP, Overweg-Plandsoen WC. "Intracranial hypertension in 2 children with marfan syndrome". J Child Neurol. 2008 Aug;23(8):954-5. |