| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3022T>C | p.Cys1008Arg | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | CGT | Arg | T->C | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#03 | C in disulfide bonds 982-1008 | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Fnu4H I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI03JIN F0001 I0001 | Proband | Female | familial | ? (25 years old) | CHINA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity | Age |
| C-Aortic insufficiency | 25 | |
| C-Asc. aortic dilatation | 25 | |
| O-Ectopia lentis | bilateral | 25 |
| S-Dolichostenomelia | 25 | |
| S-Increased body length | 25 |
| Reference ID | PubMed ID | Reference |
| 152 | 17984934 | Qin Y, Yan J, Simpson JL, Gu HF, Wang LC, Chen ZJ. "Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS)". Neuro Endocrinol Lett. 2007 Oct;28(5):629-32. |