| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5783G>C | p.Cys1928Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TCT | Ser | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #28 | Disulfide bonds 1916-1928 (C6) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Hinf I, Sfe I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET04NIJ F0002 I0001 | Proband | Male | familial | 5 years old | NETHERLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | surgery | 12 |
| C-Asc. aortic dissection | 21 | |
| O-Ectopia lentis | bilateral | 5 |
| S-Arachnodactyly (M) | 13 | |
| S-Arm span/height >1.05 (M) | 13 | |
| S-Pectus excavatum severe | surgery | 12 |
| S-Plain pes planus (M)(1) | 13 | |
| S-Scoliosis > 20° (M)(1) | 13 | |
| SI-Significant striae atrophicae (m)(1) | 20 |
| Reference ID | PubMed ID | Reference |
| 184 | 19059503 | Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM. "Compound-heterozygous Marfan syndrome". Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. |