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Article

Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants.

Heart rhythm - 1 Jul 2005

Tan Bi-Hua, Valdivia Carmen R, Rok Benjamin A, Ye Bin, Ruwaldt Karen M, Tester David J, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

BACKGROUND: Eight common (>0.5%) polymorphisms of SCN5A have been described in the US population. Every human also continuously generates two wild-type (WT) splice variants, one with a glutamine residue at position 1077 (Q1077) and one lacking this glutamine (Q1077del). One polymorphism (H558R) has been studied in both splice variants, five polymorphisms (R34C, R481W, S524Y, P1090L,V1951L) have not been...

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PMID: 15992732
DOI: 10.1016/j.hrthm.2005.04.021

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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.

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