A novel missense mutation causing a G487R substitution in the S2-S3 loop of human ether-à-go-go-related gene channel.

Abstract excerpt

INTRODUCTION: Mutations of human ether-à-go-go-related gene (hERG), which encodes a cardiac K(+) channel responsible for the acceleration of the repolarizing phase of an action potential and the prevention of premature action potential regeneration, often cause severe arrhythmic disorders. We found a novel missense mutation of hERG that results in a G487R substitution in the S2-S3 loop of the channel subunit...

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