| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1910G>A | p.Cys637Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TAT | Tyr | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #06 | Disulfide bonds 623-637 (C4) | 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) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI15TIA F0002 I0004 | Relative | Male | familial | CHINA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Age |
| O-Ectopia lentis | 32 |
| O-Glaucoma | 32 |
| SI-Significant striae atrophicae (m)(1) | 32 |
| Reference ID | PubMed ID | Reference |
| 248 | 23592911 | Zhao F, Pan X, Zhao K, Zhao C. "Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families". Mol Vis. 2013 Apr 5;19:751-8. |