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Article

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

Genome medicine - 30 May 2024

Muhammad Ayesha, Calandranis Maria E, Li Bian, Yang Tao, Blackwell Daniel J, Harvey M Lorena, Smith Jeremy E, Daniel Zerubabell A, Chew Ashli E, Capra John A, Matreyek Kenneth A, Fowler Douglas M, Roden Dan M, Glazer Andrew M

Abstract excerpt

BACKGROUND: KCNE1 encodes a 129-residue cardiac potassium channel (IKs) 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, we leveraged the power of variant effect mapping, which couples saturation mutagenesis with high-throughput sequencing, to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Voltage-Gated

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Source

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Identifiers

PMID: 38816749
DOI: 10.1186/s13073-024-01340-5
PMCID: PMC11138074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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