| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.640G>A | p.Gly214Ser | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | AGC | Ser | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Hybrid module#01 | Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Eag I, Hae III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 76 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI08BEI F0001 I0001 | Proband | NA | familial | ? | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom |
| O-Ectopia lentis |
| Reference ID | PubMed ID | Reference |
| 164 | 15733436 | Sui RF, Wei HB, Zhao JL, Hu SY, Wang B, Huang SZ, Dong M. [Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family]. Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):828-31. |