| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6182G>T | p.Cys2061Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TTT | Phe | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | C in disulfide bonds 2061-2083 | 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 | 0.18 (non pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI09GUA F0002 I0001 | Proband | Female | familial | ? (4 years old) | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom | Severity | Age |
| O-Ectopia lentis | bilateral | 4 |
| O-Myopia | 4 | |
| O-Strabismus | 4 | |
| S-Arachnodactyly (M) | 4 |
| Reference ID | PubMed ID | Reference |
| 179 | 19390640 | Zhao L, Liang T, Xu J, Lin H, Li D, Qi Y. "Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families". Mol Vis. 2009;15:826-32. |