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Article

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.

Journal of molecular medicine (Berlin, Germany) - 1 Sept 2001

Schulze-Bahr E, Schwarz M, Hauenschild S, Wedekind H, Funke H, Haverkamp W, Breithardt G, Pongs O, Isbrandt D, Hoffman S

Abstract excerpt

Mutations in the human minK gene KCNE1 have been linked to autosomal dominant and autosomal recessive long-QT (LQT) syndrome, a cardiac condition predisposing to ventricular arrhythmias. minK and KvLQT1, the LQT1 gene product, form a native cardiac K+ channel that regulates the slowly delayed rectifier potassium current I(Ks). We used single-strand conformation polymorphism and sequencing techniques to identify...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 11692163
DOI: 10.1007/s001090100249

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.PMID 11692163Read ↗

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N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.Semantic proximity Read ↗

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Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.Semantic proximity Read ↗

KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.Semantic proximity Read ↗

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Disease‐associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanismSemantic proximity Read ↗

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