Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.

Journal of cardiovascular electrophysiology - 1 Sept 2013

Sottas Valentin, Rougier Jean-Sébastien, Jousset Florian, Kucera Jan P, Shestak Anna, Makarov Leonid M, Zaklyazminskaya Elena V, Abriel Hugues

Abstract excerpt

Hundreds of genetic variants in SCN5A, the gene coding for the pore-forming subunit of the cardiac sodium channel, Na(v) 1.5, have been described in patients with cardiac channelopathies as well as in individuals from control cohorts. The aim of this study was to characterize the biophysical properties of 2 naturally occurring Na(v) 1.5 variants, p.R689H and p.R689C, found in patients with cardiac arrhythmias and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arginine
Share to Arrhythmias, Cardiac

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Electrocardiography

Share to HEK293 Cells

Share to Infant

Share to Infant, Newborn

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Pedigree

Source

Identifiers

PMID: 23692053
DOI: 10.1111/jce.12173

Genes

SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.PMID 23692053Read ↗

Biophysical Characterization of A Novel <i>SCN5A</i> Mutation Associated with an Atypical Phenotype of Atrial and Ventricular Arrhythmias and Sudden DeathSemantic proximity Read ↗

A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy.Semantic proximity Read ↗

Dysfunctional Nav1.5 channels due to SCN5A mutations.Semantic proximity Read ↗

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.Semantic proximity Read ↗

Genetic mutations and arrhythmia: simulation from DNA to electrocardiogram.Semantic proximity Read ↗

A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.Semantic proximity Read ↗

Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.Semantic proximity Read ↗

Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing.Semantic proximity Read ↗

SCN5A channelopathies--an update on mutations and mechanisms.Semantic proximity Read ↗

Inherited sodium channelopathies: a continuum of channel dysfunction.Semantic proximity Read ↗

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillationSemantic proximity Read ↗

SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.