Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel

Abstract

The R410W mutation in the cone photoreceptor CNG channel, linked to achromatopsia and assumed to be a loss-of-function variant, causes the channel to open spontaneously as revealed by cryo-EM, electrophysiology and calcium imaging, and is cytotoxic. This study calls for a multipronged evaluation/reevaluation of other inherited mutations associated with CNG channelopathy.