ArticleJournal of cardiovascular translational research2015
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
Article in Journal of cardiovascular translational research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- C-terminal long-QT type 1 R562S-Kv7.1 variant, the first variant in helix C impairing β-adrenergic response of the slow delayed rectifier K+ channel.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- Long QT syndrome type 1: clinical and functional characterization of KCNQ1 variant c.1111G > C.BMC cardiovascular disorders · 2025Article
- Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2023Article
- Functional Characterization of a Spectrum of Novel Romano-Ward SyndromeInternational journal of molecular sciences · 2023Article
- Reclassification of genetic variants in children with long QT syndrome.Molecular genetics & genomic medicine · 2020Article
- Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.Circulation · 2020Article
- The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.Biochimica et biophysica acta. Biomembranes · 2020Review
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- Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.Science advances · 2018Article
- Even pore-localizing missense variants at highly conserved sites inHeartRhythm case reports · 2018Article
- Re-evaluating pathogenicity of variants associated with the long QT syndrome.Journal of cardiovascular electrophysiology · 2018Article
- Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification.HeartRhythm case reports · 2017Article
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Authors and funding
8 authors.
Funding
Abstract
Despite the overrepresentation of Kv7.1 mutations among patients with a robust diagnosis of long QT syndrome (LQTS), a background rate of innocuous Kv7.1 missense variants observed in healthy controls creates ambiguity in the interpretation of LQTS genetic test results. A recent study showed that the probability of pathogenicity for rare missense mutations depends in part on the topological location of the variant in Kv7.1's various structure-function domains. Since the Kv7.1's C-terminus accounts for nearly 50 % of the overall protein and nearly 50 % of the overall background rate of rare variants falls within the C-terminus, further enhancement in mutation calling may provide guidance in distinguishing pathogenic long QT syndrome type 1 (LQT1)-causing mutations from rare non-disease-causing variants in the Kv7.1's C-terminus. Therefore, we have used conservation analysis and a large case-control study to generate topology-based estimative predictive values to aid in interpretation, identifying three regions of high conservation within the Kv7.1's C-terminus which have a high probability of LQT1 pathogenicity.
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