Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na _V 1.5).

ABSTRACT: Common genetic polymorphisms may modify the phenotypic outcome when co-occurring with a disease-causing variant, and therefore understanding their modulating role in health and disease is of great importance. The polymorphic p.His558Arg variant of the sodium voltage-gated channel alpha subunit 5 (Na _V 1.5) encoded by the SCN5A gene is a case in point, as several studies have shown it can modify the clinical phenotype in a number of cardiac diseases. To evaluate the genetic backgrounds associated with this modulating effect, we reanalysed previous electrophysiological findings regarding the p.His558Arg variant and further assessed its patterns of genetic diversity in human populations. The Na _V 1.5 p.His558Arg variant was found to be in linkage dis

SUBMITTER: Lopes-Marques M 

PROVIDER: S-EPMC9392453 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature