Table 4. Summary of mutations identified in LIM2 associated with cataractogenesis.
No | Nucleotide Change | Amino Acid Change | Exon | Cataractogenesis Onset | Cataract Phenotype | Additional Phenotypes | Ethnicity | Reference |
---|---|---|---|---|---|---|---|---|
1 | c.313T>G | p.F105V | 3 | Presenile | pulverulent cortical/ nuclear | - | Iraqi/Arab | [17] |
2 | c.587G>A | p.G154E | 4/5 | Congenital | total | nystagmus; dense amblyopia | Indian | [31] |
3 | c.233G>A | p.G78D | 3 | Congenital | nuclear | nystagmus | Pakistani | current study |