Until now, several amino acid substitutions at position 47 or nearby amino acids have been identified in the connexin 50 gene in association with congenital cataracts in mice and humans, including Cx50V44E [34], Cx50W45S [35], Cx50G46V [36], Cx50D47Y [37], Cx50D47N [33], Cx50E48K [38], mCX50D47A [39], and mCX50S50P [40]. The gene discussed is GJA8; the disease is Developmental cataract.