Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG

Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG

Loss of function (LOF) mutations of voltage sensitive K+ channel proteins hERG (Kv11.1) and KCNQ1 (Kv7.1) account for the majority of instances of congenital Long QT Syndrome (cLQTS) with the dominant molecular phenotype being a mistrafficking one resulting from protein misfolding. We explored the u...

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Bibliographic Details
Main Authors: Yihong Zhang, Amy L. Grimwood, Jules C. Hancox, Stephen C. Harmer, Christopher E. Dempsey
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Pharmacology
Subjects:
misfolding
long QT syndrome
ClinVar
pathogenic
evolutionary coupling
hERG
Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2022.1010119/full

Internet

https://www.frontiersin.org/articles/10.3389/fphar.2022.1010119/full

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