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. 2009 Jun 30;2009:bcr06.2009.1995. doi: 10.1136/bcr.06.2009.1995

Table 1.

Cx50 (GJA8) mutations reported in human cataracts

Mutation Phenotype
Arg23Thr Progressive congenital nuclear
Val44Glu Congenital or developmental cataract with microcornea
Glu48Lys Zonular nuclear pulverulent
Pro88Ser Zonular pulverulent
Pro88Gln Lamellar pulverulent
Val79Leu “Full moon” with Y-sutural opacity
Arg198Glu Congenital or developmental cataract with microcornea
Ile247Met Zonular pulverulent