| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4467T>A | p.Asn1489Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAT | Asn | AAA | Lys | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #22 | Ca2+ binding | 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) |
|---|---|---|
| 1 | 0.03 (pathogenous) | 92 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA05HOU F0019 I0001 | Proband | Female | NA | U.S.A. |
| Phenotypic group | Disease |
| NA | TAAD |
| Symptom | Age |
| C-Asc. aortic dilatation | 56 |
| C-Desc. aortic dissection (thor. or abdo.) | 56 |
| S-High arched palate | 56 |
| 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. |