Table 1 of
Zhou, Mol Vis 2013; 19:789-795. Table 1 of
Zhou, Mol Vis 2013; 19:789-795.
Table 1. The summary of previous studies of congenital cataract associated with GJA3
| Mutation | Amino Acid Changes | Location | Cataract Type | Family Origin | Reference |
|---|---|---|---|---|---|
| c.7G>T | p.D3Y | NH2-terminus | Zonular pulverulent | Hispanic Central American | [9] |
| c.32T>C | p.L11S | NH2-terminus | Ant-egg | Danish | [11] |
| c.82G>A | p.V28M | First transmembrane domain (TM1) | Variable | Indian | [12] |
| c.96C>A | p.F32L | First transmembrane domain (TM1) | Nuclear pulverulent | Chinese | [7] |
| c.98G>T | p.R33L | First transmembrane domain (TM1) | Embryonal nuclear granular | Indian | [10] |
| c.130G>A | p.V44M | First extracellular loop (EL1) | Bilateral nuclear | Chinese | [13] |
| c.134G>C | p.W45S | First extracellular loop (EL1) | Bilateral nuclear | Chinese | [14] |
| c.176C>T | p.P59L | First extracellular loop (EL1) | Nuclear punctate | American | [6] |
| c.188A>G | p.N63S | First extracellular loop (EL1) | Zonular pulverulent | Caucasian | [8] |
| c.226C>G | p.R76G | First extracellular loop (EL1) | Total | Indian | [12] |
| c.227G>A | p.R76H | First extracellular loop (EL1) | Pulverulent | Australian | [12,22] |
| c.260C>T | p.T87M | Second transmembrane domain (TM2) | Pearl box | Indian | [12] |
| c.427G>A | p.G143R | Topological domain | Coppock-like cataract | Chinese | [16] |
| c.560C>T | p.P187L | Second extracellular loop (EL2) | Zonular pulverulent | Caucasian | [17] |
| c.563A>C | p.N188T | Second extracellular loop (EL2) | Nuclear pulverulent | Chinese | [23] |
| c.563A>T | p.N188I | Second extracellular loop (EL2) | Zonular pulverulent | Chinese | [15] |
| c.1137insC | p.S380fs | COOH-terminus | Zonular pulverulent | Caucasian | [8] |
| c.1361insC | p.A397fs | COOH-terminus | coralliform | Chinese | This study |