High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology

Abstract Background KCNE1 encodes a 129-residue cardiac potassium channel (I Ks) subunit. KCNE1 variants are associated with long QT syndrome and atrial fibrillation. However, most variants have insufficient evidence of clinical consequences and thus limited clinical utility. Methods In this study,...

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Bibliographic Details
Main Authors: Ayesha Muhammad, Maria E. Calandranis, Bian Li, Tao Yang, Daniel J. Blackwell, M. Lorena Harvey, Jeremy E. Smith, Zerubabell A. Daniel, Ashli E. Chew, John A. Capra, Kenneth A. Matreyek, Douglas M. Fowler, Dan M. Roden, Andrew M. Glazer
Format: Article
Language:English
Published: BMC 2024-05-01
Series:Genome Medicine
Subjects:
Multiplexed assay of variant effect
Long QT syndrome
KCNE1
Ion channel
Arrhythmia
Saturation mutagenesis
Online Access:https://doi.org/10.1186/s13073-024-01340-5

Internet

https://doi.org/10.1186/s13073-024-01340-5

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