| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6790G>T | p.Glu2264X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | TAA | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #35 | Yes, non coding strand | 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 F0027 I0001 | Proband | NA | NA | CHINA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 263 | 23744319 | Lu C, Wu W, Xiao J, Meng Y, Zhang S, Zhang X. [Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):301-4. |