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A depiction of the potassium channel, KvLQT1, encoded by the gene KCNQ1, is shown with 6 transmembrane domains (S1–S6) seen spanning the cardiomyocyte membrane. The site of the pathogenic variant identified in the proband—KCNQ1 c.1552C>T; p.R518X—is depicted by the blue circle in the C-terminus.
