| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4168_4171delCTGT | p.Leu1390AlafsX22 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | del4a | Fs. | Stop at 1411 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #19 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Deletion of a repeated sequence | 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 F0023 I0001 | Proband | Female | 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. |