| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3824G>T | p.Arg1275Leu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | CTG | Leu | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coiled coil | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): BstN I, EcoR II Lost restriction site(s): Bcn I, Bcn I, BstK I, Dsa V, Hpa II, Msp I, Nci I, Nci I, ScrF I, Sma I, Xma I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.93 | 0.82 (non pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA02HOU F0001 I0003 | Relative | Male | Familial | U.S.A. |
| Phenotypic group | Disease |
| Thoracic Aortic Aneurysm or Dissection |
| Symptom | Severity | Age |
| C-Asc aortic dilatation | Surgery | 22 |
| Reference ID | PubMed ID | Reference |
| 2 | 17666408 | Pannu H, Tran-Fadulu V, Papke CL, Scherer S, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, Vick GW, Marian AJ, Raman CS, Buja LM, Milewicz DM. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet. 2007 Oct 15;16(20):2453-62. Epub 2007 Jul 31. . |