| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3920G>A | p.Cys1307Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #17 | Disulfide bonds 1307-1320 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| JAP03OSA F0010 I0001 | Proband | Male | NA | JAPAN |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | surgery | 40 |
| C-Desc. aortic dilatation (thor or abdo) | 40 | |
| C-Desc. aortic dissection (thor. or abdo.) | 40 |
| Reference ID | PubMed ID | Reference |
| 216 | 20729124 | Takahashi M, Sato T, Nishiguchi M, Suzuki K, Nishio H. "Postmortem genetic analysis for a sudden death case complicated with Marfan syndrome". Leg Med (Tokyo). 2010 Nov;12(6):305-7. |