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]

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