| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4691G>C | p.Cys1564Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TCT | Ser | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 | C in disulfide bonds 1564-1589 | 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) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA01BAL F0038 I0001 | Proband | Female | familial | U.S.A. |
| Phenotypic group | Disease |
| NA | Stiff Skin Syndrome |
| Symptom | Severity |
| O-Cataract | |
| O-Myopia | |
| S-Camptodactyly | |
| S-Joint limitations | elbow, shoulder, knee |
| SI-MCP/IP nodules | |
| SI-Stiff skin |
| Reference ID | PubMed ID | Reference |
| 206 | 20375004 | Loeys, B. L., Gerber, E. E., Riegert-Johnson, D., Iqbal, S., Whiteman, P., McConnell, V., Chillakuri, C. R., Macaya, D., Coucke, P. J., De Paepe, A., Judge, D. P., Wigley, F., Davis, E. C., Mardon, H. J., Handford, P., Keene, D. R., Sakai, L. Y., Dietz, H. C. "Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome". Sci. Transl. Med. 2010, 2: 23ra20. |