| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7916A>G | p.Tyr2639Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAT | Tyr | TGT | Cys | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #42 | 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 | 0.01 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET05GRO F0001 I0001 | Proband | Male | familial | 11 years old | NETHERLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 24 |
| C-Mitral valve prolapse | 24 |
| O-Ectopia lentis | 24 |
| S-Arachnodactyly (M) | 24 |
| S-Pectus carinatum (M)(2) | 24 |
| S-Plain pes planus (M)(1) | 24 |
| SI-Significant striae atrophicae (m)(1) | 24 |
| Reference ID | PubMed ID | Reference |
| 197 | 20200614 | Aalberts JJ, Schuurman AG, Pals G, Hamel BJ, Bosman G, Hilhorst-Hofstee Y, Barge-Schaapveld DQ, Mulder BJ, van den Berg MP, van Tintelen JP. "Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation". Neth Heart J. 2010 Feb;18(2):85-9. |