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

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

Physiological genomics - 6 Feb 2003

Ye Bin, Valdivia Carmen R, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

SCN5A encodes the alpha-subunit of the ion channel that carries Na current in human heart. From a human cardiac cDNA library we recloned SCN5A. The new clone hH1b differed from existing clones hH1 in four and from hH1a in three positions. The common polymorphism H558R was uniquely present in hH1b. Voltage clamp study showed minor but potentially important kinetic differences between hH1b and the other clones....

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmias, Cardiac
Share to Genetic Complementation Test

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Long QT Syndrome

Share to Membrane Potentials

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Patch-Clamp Techniques

Share to Sodium Channels

Share to Suppression, Genetic

Source

Identifiers

PMID: 12454206
DOI: 10.1152/physiolgenomics.00117.2002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.PMID 12454206Read ↗

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.Semantic proximity Read ↗

Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels.Semantic proximity Read ↗

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

Striking In Vivo Phenotype of a Disease-Associated Human <i>SCN5A</i> Mutation Producing Minimal Changes in VitroSemantic proximity Read ↗

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.Semantic proximity Read ↗

Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.Semantic proximity Read ↗

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

More Severe Loss-of-Function Sodium Channel induced by Compound SCN5A R965C and R1309H Mutants lead to Complex Familial Arrhythmia SyndromeSemantic proximity Read ↗

Human heart failure is associated with abnormal C-terminal splicing variants in the cardiac sodium channel.Semantic proximity Read ↗

Functional Characterization of a Trafficking-defective HCN4 Mutation, D553N, Associated with Cardiac ArrhythmiaSemantic proximity Read ↗

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletineSemantic proximity Read ↗

[Functional analysis of a novel SCN5A mutation G1712C identified in Brugada syndrome].Semantic proximity Read ↗

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