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Structure of human Na v 1.5 reveals the fast inactivation-related segments as a mutational hotspot for the Long QT Syndrome

2021-02-07

Abstract excerpt

Na v 1.5 is the primary voltage-gated Na + (Na v ) channel in the heart. Mutations of Na v 1.5 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 Na v 1.5-E1784K variant at an overall resolution of 3.3 Å. Stru...

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Literature Corpus work: 113d7fb9-a060-5b05-8744-f6f55ec9a99d
DOI: 10.1101/2021.02.06.430010

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