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