Communications Biology (Mar 2022)

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

  • Xiangdong Zheng,
  • Huan Li,
  • Zhengshan Hu,
  • Deyuan Su,
  • Jian Yang

DOI
https://doi.org/10.1038/s42003-022-03120-6
Journal volume & issue
Vol. 5, no. 1
pp. 1 – 13

Abstract

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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.