| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6241C>T | p.Gln2081X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | TAG | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | C-Term MMPs site | 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 |
| CHI08BEI F0021 I0003 | Relative | Male | familial | CHINA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 244 | 22772377 | Wang WJ, Han P, Zheng J, Hu FY, Zhu Y, Xie JS, Guo J, Zhang Z, Dong J, Zheng GY, Cao H, Liu TS, Fu Q, Sun L, Yang BB, Tian XL. "Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections". J Mol Med (Berl). 2013 Jan;91(1):37-47. |