| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3379G>A | p.Gly1127Ser | Heterozygous | Polymorphism? |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGT | Gly | AGT | Ser | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | conserved AA in cbEGF-like | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| Not tested on cDNA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA03STA F0063 I01 | Proband | Female | familial | ? (69 years old) | U.S.A |
| Phenotypic group | Disease |
| NA | AAA |
| Symptom | Severity |
| C-Aortic insufficiency | surgery |
| C-Aortic surgery | |
| C-Asc. aortic dilatation | |
| C-Asc. aortic dilatation | |
| C-Mitral valve prolapse | |
| O-Cataract | |
| O-Glaucoma | |
| O-Myopia | |
| S-Crowding teeth (m) | moderate |
| Reference ID | PubMed ID | Reference |
| 78 | 7762551 | Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H. "A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection". Am J Hum Genet 1995 Jun;56(6):1287-96. |