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Article

Disruption of a Conservative Motif in the C-Terminal Loop of the KCNQ1 Channel Causes LQT Syndrome.

International journal of molecular sciences - 19 Jul 2022

Karlova Maria, Abramochkin Denis V, Pustovit Ksenia B, Nesterova Tatiana, Novoseletsky Valery, Loussouarn Gildas, Zaklyazminskaya Elena, Sokolova Olga S

Abstract excerpt

We identified a single nucleotide variation (SNV) (c.1264A > G) in the KCNQ1 gene in a 5-year-old boy who presented with a prolonged QT interval. His elder brother and mother, but not sister and father, also had this mutation. This missense mutation leads to a p.Lys422Glu (K422E) substitution in the Kv7.1 protein that has never been mentioned before. We inserted this substitution in an expression plasmid...

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Identifiers

PMID: 35887302
DOI: 10.3390/ijms23147953
PMCID: PMC9316142

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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