Article

Pathological turret mutations in the cardiac sodium channel cause long-range pore disruption

2021-01-17

Abstract excerpt

The voltage-gated sodium channel Nav1.5 initiates the cardiac action potential. Germline mutations that disrupt Nav1.5 activity predispose affected individuals to inherited cardiopathologies. Some of these Nav1.5 mutations alter amino acids in extracellular turret domains DII and DIII. Yet the mechanism is unclear. In the rat Nav1.5 structure determined by cryogenic electron microscopy, the wild-type residues corr...

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Literature Corpus work: 680b38c8-a481-5633-b891-7f61e4f262cd
DOI: 10.1101/2021.01.15.426807

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