| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.813C>A | p.Cys271X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #01 | Disulfide bonds 257-271 (C4) | 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 |
| CHI17SHA F0001 I0001 | Proband | Female | familial | CHINA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Desc. aortic dilatation (thor or abdo) | 46 | |
| C-Desc. aortic dissection (thor. or abdo.) | surgery | 46 |
| CF-Dolichocephaly | 46 | |
| CF-Enophthalmos | 46 | |
| CF-Retrognathia | 46 | |
| O-Myopia | 46 | |
| S-Arachnodactyly (M) | 46 | |
| S-Joint hypermobility (m) | 46 | |
| S-Plain pes planus (M)(1) | 46 | |
| S-Protusio acetabulæ (M)(2) | 46 | |
| SI-Significant striae atrophicae (m)(1) | 46 | |
| SI-Skin hyperextensibility | 46 |
| Reference ID | PubMed ID | Reference |
| 278 | 24484584 | Li G, Yu J, Wang K, Wang B, Wang M, Zhang S, Qin S, Yu Z. "Exome sequencing identified new mutations in a Marfan syndrome family". Diagn Pathol. 2014 Jan 31;9:25. doi: 10.1186/1746-1596-9-25. |