Table 2 of
Devi, Mol Vis 2005;
11:846-852.Table 2 of
Devi, Mol Vis 2005;
11:846-852.
Table 2. Mutations in human GJA3
Connexin 46 gene mutations identified in the present study and other previous studies which were associated with autosomal dominant congenital cataract.
Base Cataract
change Mutation type Location Reference
---------- -------- ----------- ----------------------------- ---------
c.82 G>A V28M Variable First transmembrane domain This
study
c.96 C>G F32L Nuclear First transmembrane domain [32]
c.176 C>T P59L Punctate First extracellular loop [20]
nuclear
c.188 A>G N63S Zonular First extracellular loop [13]
pulverulent
c.226 C>G R76G Total Boundary first extracellular This
loop and second transmembrane study
domain
c.227 G>A R76H Pulverulent Boundary first extracellular [22]
loop and second transmembrane
domain
c.560 C>T P187L Zonular Second extracellular loop [33]
pulverulent
c.563 A>C N188T Nuclear Second extracellular loop [34]
pulverulent
c.1137insC S380fs Zonular COOH-terminal cytoplasmic [13]
pulverulent loop
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