Functional reassessment of Nav1.5 T559A reveals loss-of-function in a variant commonly used as wild type.

Abstract excerpt

SCN5A encodes the α-subunit of the cardiac voltage-gated sodium channel Nav1.5 that plays a fundamental role in the excitability and functionality of the human heart. Nav1.5 T559A is a rare variant that has never been functionally characterized nor clinically described. However, it is present in the hH1a SCN5A clone that has been used as a wild-type control over the years. In this work, we performed a functional...

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