| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4253_4259del | p.Gly1418AlafsX55 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | del7b | Fs. | Stop at 1472 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #20 | conserved AA in cbEGF-like |
| At the mRNA level | On restriction map |
| Deletion flanked by direct repeats | 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 F0020 I0001 | Proband | Female | NA | U.S.A. |
| Phenotypic group | Disease |
| NA | TAAD |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | moderate | 16 |
| C-Desc. aortic dissection (thor. or abdo.) | 16 | |
| O-Myopia | 16 | |
| S-Arm span/height >1.05 (M) | 16 | |
| S-High arched palate | 16 | |
| S-Pectus excavatum moderate (m)(1) | 16 | |
| SI-Significant striae atrophicae (m)(1) | 16 |
| 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. |