Article

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

2022-06-14

Abstract excerpt

We identified a single nucleotide variation (SNV) (c.1264A&gt;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, never mentioned before. We inserted this substitution in an expression plasmid containing Kv7.1...

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Literature Corpus work: 91d86de8-80d5-5d85-85f2-2ee7c50fdc49
DOI: 10.20944/preprints202206.0199.v1

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