Table 2 of Zhou, Mol Vis 2010; 16:713-719.

Table 2. The summary of previous studies of congenital cataract associated with GJA3.



Cataract type

Family origin

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]