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