Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Mutations on the cytoplasmic surface affect transducin activation
KC Min, TA Zvyaga, AM Cypess, TP Sakmar - Journal of Biological …, 1993 - ASBMB
Rhodopsin mutants responsible for autosomal dominant retinitis pigmentosa (ADRP) were
prepared by site-directed mutagenesis and characterized. The aim was to evaluate ADRP
mutations that occur at three locations on the cytoplasmic surface of rhodopsin: Thr-58 near
the cytoplasmic border of helix A, the tetrapeptide Leu-68 to Pro-71 in the first cytoplasmic
loop, and Arg-135 at the cytoplasmic border of helix C. It was hypothesized that amino acid
changes at these sites would result in mutant rhodopsins with normal spectral properties but …
prepared by site-directed mutagenesis and characterized. The aim was to evaluate ADRP
mutations that occur at three locations on the cytoplasmic surface of rhodopsin: Thr-58 near
the cytoplasmic border of helix A, the tetrapeptide Leu-68 to Pro-71 in the first cytoplasmic
loop, and Arg-135 at the cytoplasmic border of helix C. It was hypothesized that amino acid
changes at these sites would result in mutant rhodopsins with normal spectral properties but …