| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3519C>G | p.Asn1173Lys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | AAG | Lys | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #14 | Ca2+ binding | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Alu I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 88 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CHI16TIA F0001 I0001 | Proband | NA | familial | CHINA |
| Phenotypic group | Disease |
| NA | Dominant ectopia lentis |
| Symptom |
| O-Ectopia lentis |
| Reference ID | PubMed ID | Reference |
| 260 | 23141514 | Feng XL, Li ND, Wang LM, Wang YC, Zhao KX. [Recurrent N1173K mutation in FBN1 gene in a Chinese family with ectopia lentis]. Zhonghua Yan Ke Za Zhi. 2012 Aug;48(8):728-32. |