| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.531insC | p.Glu178X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | ins1c | Fs. | Stop at 178 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like#03 | Disulfide bonds 168-177 (C6) | Yes, non coding strand |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Nla IV, Sau96 I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0257 I0001 | Proband | Female | de novo | BELGIUM |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| O-Myopia |
| S-Arachnodactyly (M) |
| S-Scoliosis > 20° (M)(1) |
| Reference ID | PubMed ID | Reference |
| 236 | 22406088 | Van Den Bossche MJ, Van Wallendael KL, Strazisar M, Sabbe B, Del-Favero J. "Co-occurrence of Marfan syndrome and schizophrenia: what can be learned?" Eur J Med Genet. 2012 Apr;55(4):252-5. |