| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3127A>G | p.Lys1043Glu | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | GAG | Glu | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | 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 | 0.04 (pathogenous) | 51 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| KOR01SEO F0006 I01 | Proband | Male | NA | S. KOREA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 5 |
| O-Ectopia lentis | 5 |
| S-Incomplete description | 5 |
| Reference ID | PubMed ID | Reference |
| 100 | 11059536 | Oh MR, Kim JS, Beck NS, Yoo HW, Lee HJ, Kohsaka T, Jin DK. "Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome". Pediatr Int. 2000 Oct;42(5):488-91. |