| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7115G>T | p.Gly2372Val | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGT | Gly | GTT | Val | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP #07 | conserved AA in TGFBP | Yes, non coding strand | 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 |
| USA05HOU F0018 I0001 | Proband | Male | familial | U.S.A. |
| Phenotypic group | Disease |
| NA | TAAD |
| Symptom | Age |
| C-Aortic insufficiency | 37 |
| C-Asc. aortic dissection | 37 |
| Reference ID | PubMed ID | Reference |
| 180 | 19336958 | Yamawaki T, Nagaoka K, Morishige K, Sadamatsu K, Tashiro H, Yasunaga H, Morisaki H, Morisaki T. "Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations". Intern Med. 2009;48(7):555-8. |