| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4304_4307dup | p.Pro1437ArgfsX5 | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | ins4c | Fs. | Stop at 1441 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #20 |
| At the mRNA level | On restriction map |
| Duplication 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 |
| CHI06FUJ F0003 I0001 | Proband | NA | NA | ? | CHINA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 165 | 15583982 | Huang X, Wu Y, Chen F, Huang Y, Ma X, Chen T. [Two novel mutations in fibrillin-1 gene of Marfan syndrome.] Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Dec;21(6):562-5. |