Table 2 of
Devi, Mol Vis 2006;
12:190-195.
Table 2. Summary of mutations in human GJA8
Shown are connexin 50 gene mutations that have been identified in this and other studies.
Base change Mutation Location Population Reference ----------- -------- --------------------------- ---------- ---------- c.68 G>C R23T Cytoplasmic N-terminal Iranian [16] c.131 T>A V44E First transmembrane domain Indian This study c.142 G>A E48K First extracellular loop Pakistani [37] c.191 T>G V64G First extracellular loop Chinese [38] c.262 C>T P88S Second transmembrane domain British [18] c.593 G>A R198Q Second extracellular loop Indian This study c.741 T>G I247M Cytoplasmic C-terminal Russian [39] |