Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.

摘要: A large number of mutations in rhodopsin are associated with autosomal dominant retinitis pigmentosa (ADRP). We analyzed the biochemical phenotypes ADRP-associated cysteine mutants C167R, C222R, and C264del. C222R behaved as wild type every aspect testable is classified a class I mutant. C167R produced intact protein but did not regenerate 11-cis retinal was transported to plasma membrane. confirm its classification IIa C264del represents novel phenotype, which we propose call III. It truncated 27kDa that failed targeted