| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.572insTCCCTGG | p.Ser191IlefsX34 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | ins7b | Fs. | Stop at 224 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| POR01POR F0010 I0001 | Proband | Female | de novo | PORTUGAL |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 25 |
| C-Mitral valve prolapse | 25 |
| Reference ID | PubMed ID | Reference |
| 224 | 22005308 | Lebreiro A, Martins E, Cruz C, Almeida J, Pimenta S, Bernardes M, Carlos Machado J, Jœlia Maciel M, Abreu-Lima C. [Genotypic characterization of a Portuguese population of Marfan syndrome patients]. Rev Port Cardiol. 2011 Jul;30(7-8):649-54. |