Table 2 of Zhou, Mol Vis 2010; 16:713-719. Table 2 of Zhou, Mol Vis 2010; 16:713-719.
Table 2. The summary of previous studies of congenital cataract associated with GJA3.
Mutation |
Amino acid change |
Location |
Cataract type |
Family origin |
Reference |
|---|---|---|---|---|---|
| c.7G>T | p.D3Y | NH2-terminus | Zonular pulverulent | Hispanic Central American | [35] |
| c.32T>C | p.L11S | NH2-terminus | Ant-egg | Danish | [36] |
| c.82G>A | p.V28M | First transmembrane domain (M1) | Variable | Indian | [37] |
| c.96C>A | p.F32L | First transmembrane domain (M1) | Nuclear pulverulent | Chinese | [38] |
| c.98G>T | p.R33L | First transmembrane domain (M1) | Embryonal nuclear granular | Indian | [39] |
| c.130G>A | p.V44M | First extracellular loop (E1) | Nuclear | Chinese | Present study |
| c.134G>C | p.W45S | First extracellular loop (E1) | Bilateral nuclear | Chinese | [40] |
| c.176C>T | p.P59L | First extracellular loop (E1) | Nuclear punctate | American | [41] |
| c.188A>G | p.N63S | First extracellular loop (E1) | Zonular pulverulent | Caucasian | [18] |
| c.226C>G | p.R76G | First extracellular loop (E1) | Total | Indian | [37] |
| c.227G>A | p.R76H | First extracellular loop (E1) | Nuclear pulverulent | Australian | [42] |
| c.260C>T | p.T87M | Second transmembrane domain (M2) | Pearl box | Indian | [43] |
| c.560C>T | p.P187L | Second extracellular loop (E2) | Zonular pulverulent | Caucasian | [44] |
| c.563A>C | p.N188T | Second extracellular loop (E2) | Nuclear pulverulent | Chinese | [45] |
| c.1137insC | p.S380fs | COOH-terminus | Zonular pulverulent | Caucasian | [18] |