An A66G transition represses splicing of intron 1, allowing an additional 92 bp in the coding sequence that leads to a frameshift and a novel hybrid protein containing 3 amino acids of the gammaE-crystallin at the N terminus and 153 additional novel amino acids. The protein is predicted to have two hydrophobic domains and Western blot demonstrated expression in the cataractous lenses. (J:78761)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count