Article
Structure of human Nav1.5 reveals the fast inactivation-related segments as a mutational hotspot for the long QT syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 16 Mar 2021
Li Zhangqiang, Jin Xueqin, Wu Tong, Zhao Xin, Wang Weipeng, Lei Jianlin, Pan Xiaojing, Yan Nieng
Abstract excerpt
Nav1.5 is the primary voltage-gated Na+ (Nav) channel in the heart. Mutations of Nav1.5 are associated with various cardiac disorders exemplified by the type 3 long QT syndrome (LQT3) and Brugada syndrome (BrS). E1784K is a common mutation that has been found in both LQT3 and BrS patients. Here we present the cryo-EM structure of the human Nav1.5-E1784K variant at an overall resolution of 3.3 Å. The structure is...
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