Article
Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.
Biochemical and biophysical research communications - 4 Oct 2002
Breikers Githa, Portier-VandeLuytgaarden Margriet J M, Bovee-Geurts Petra H M, DeGrip Willem J
Abstract excerpt
A large number of mutations in rhodopsin are associated with autosomal dominant retinitis pigmentosa (ADRP). We analyzed the biochemical phenotypes of the ADRP-associated cysteine mutants C167R, C222R, and C264del. C222R behaved as wild type in every aspect testable and is classified as a class I mutant. C167R produced intact protein but did not regenerate with 11-cis retinal and was not transported to the plasma...
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