Effects of Single Nucleotide Polymorphisms in Human KCNMA1 on BK Current Properties.

ABSTRACT: BK Ca²⁺-activated K⁺ channels are important regulators of membrane excitability. Multiple regulatory mechanisms tailor BK current properties across tissues, such as alternative splicing, posttranslational modifications, and auxiliary subunits. Another potential mechanism for modulating BK channel activity is genetic variation due to single nucleotide polymorphisms (SNPs). The gene encoding the human BK α subunit, KCNMA1, contains hundreds of SNPs. However, the variation in BK channel activity due to SNPs is not well studied. Here, we screened the effects of four SNPs (A138V, C495G, N599D, and R800W) on BK currents in HEK293T cells, selected based on predicted protein pathogenicity or disease linkage. We found that the SNPs C495G and R800W had the largest effect

SUBMITTER: Plante AE 

PROVIDER: S-EPMC6901604 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature