| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3703T>C | p.Ser1235Pro | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCA | Ser | CCA | Pro | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #15 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Dpn I, Dpn II, Mbo I, Sau3A I |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.03 (pathogenous) | 81 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI08BEI F0003 I0001 | Proband | Female | familial | CHINA |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | 32 | |
| C-Mitral valve prolapse | 32 | |
| O-Ectopia lentis | 32 | |
| O-Myopia >3 diopters (1) | 32 | |
| O-Strabismus | both eyes | 32 |
| S-Arachnodactyly (M) | 32 | |
| S-Increased body length | 32 | |
| S-Joint hypermobility (m) | 32 |
| Reference ID | PubMed ID | Reference |
| 226 | 21976953 | Meng B, Li H, Yang T, Huang S, Sun X, Yuan H. "Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome". Mol Vis. 2011;17:2421-7. |