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Article

Expression Defects of SCN5A Common Polymorphisms S524Y and H558R in the Q1077 Splice Variant Can Be Rescued by Mexiletine.

Cells - 5 Aug 2026

Hu Rou-Mu, Song Evelyn J, Valdivia Carmen R, Deschenes Isabelle, Makielski Jonathan C, Tan Bi-Hua

Abstract excerpt

The cardiac sodium channel NaV1.5, encoded by SCN5A, generates the inward sodium current required for myocardial excitability and impulse conduction. Loss-of-function mutations of NaV1.5 have been implicated in inherited arrhythmia syndromes, including Brugada syndrome, progressive cardiac conduction disease, and congenital sick sinus syndrome. The common SCN5A polymorphism H558R has reported minor allele...

Topics

Humans
NAV1.5 Voltage-Gated Sodium Channel
Mexiletine
Polymorphism, Genetic
HEK293 Cells
Alternative Splicing
RNA Splicing
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 42587826
DOI: 10.3390/cells15151418
PMCID: PMC13465417

Genes

SCN5A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Expression Defects of SCN5A Common Polymorphisms S524Y and H558R in the Q1077 Splice Variant Can Be Rescued by Mexiletine.PMID 42587826Read ↗

Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.Semantic proximity Read ↗

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