Article
Predicting novel disease mutations in the cardiac sodium channel.
Biochemical and biophysical research communications - 15 Jan 2020
Tarnovskaya Svetlana I, Korkosh Vyacheslav S, Zhorov Boris S, Frishman Dmitrij
Abstract excerpt
BACKGROUND: Voltage-gated sodium channels Nav1.x mediate the rising phase of action potential in excitable cells. Variations in gene SCN5A, which encodes the hNav1.5 channel, are associated with arrhythmias and other heart diseases. About 1,400 SCN5A variants are listed in public databases, but for more than 30% of these the clinical significance is unknown and can currently only be derived by bioinformatics...
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