| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2433C>A | p.Cys811X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #09 | Disulfide bonds 811-821 (C1) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0258 I0001 | Proband | Female | familial | POLAND |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 24 | |
| C-Mitral valve prolapse | 24 | |
| C-Mitral valve surgery | 24 | |
| S-Arachnodactyly (M) | 24 | |
| S-Arm span/height >1.05 (M) | 24 | |
| S-Crowding teeth (m) | 24 | |
| S-High arched palate | 24 | |
| S-Pectus excavatum moderate (m)(1) | Surgery | 11 |
| S-Scoliosis > 20° (M)(1) | 11 |
| Reference ID | PubMed ID | Reference |
| 273 | 24296667 | Wypasek E, Potaczek DP, St?por R, Coucke PJ, De Backer J, De Paepe AM, Undas A. "First report of the genetic background of Marfan syndrome in Polish patients". Pol Arch Med Wewn. 2013;123(11):646-7. |