| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1110insG | p.Thr371HisfsX5 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTC | Val | ins1c | Fs. | Stop at 375 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#01 |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0021 I0001 | Proband | Male | NA | ? (24 years old) | U.S.A. |
| Phenotypic group | Disease |
| NA | TAAD |
| Symptom | Age |
| C-Desc. aortic dissection (thor. or abdo.) | 24 |
| S-Arachnodactyly (M) | 24 |
| S-Arm span/height >1.05 (M) | 24 |
| SI-Significant striae atrophicae (m)(1) | 24 |
| Reference ID | PubMed ID | Reference |
| 193 | 20082464 | Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. "FBN1 mutations in patients with descending thoracic aortic dissections". Am J Med Genet A. 2010 Feb;152A(2):413-6. |