Crybb2^Phil

A 12 bp in-frame deletion in the coding region of the gene resulted in the absence of amino acids 203-206 of the encoded protein. These amino acids are predicted to be required for either folding or stabilization of the protein. A total absence of a 27 kDa Beta-crystallin and its messenger RNA was shown, although other Beta-crystallins occur throughout the lens (J:8166). (J:6294, J:8166, J:11126)