| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3761G>C | p.Cys1254Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TCC | Ser | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #16 | Disulfide bonds 1242-1254 (C3) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): ApaL I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| KOR01SEO F0001 I01 | Proband | Male | familial | (12 years old) | S. KOREA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Age |
| C-Asc. aortic dilatation | 12 |
| CF-Dolichocephaly | 12 |
| CNS-Lumbosacral dural ectasia | 12 |
| O-Ectopia lentis | 12 |
| O-Myopia | 12 |
| S-Arachnodactyly (M) | 12 |
| S-High arched palate | 12 |
| S-Increased body length | 12 |
| S-Joint hypermobility (m) | 12 |
| S-Plain pes planus (M)(1) | 12 |
| 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. |