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. 2017 Mar 6;54(6):390–398. doi: 10.1136/jmedgenet-2016-104153

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Assessment of p.L353L mutant KCNQ1 transcript levels. (A) Gel electrophoresis (amplified using 5F and 10R primers) showing the full-length sequence and alternatively spliced product skipping exon 8 (Δ8). (B) Schematic of primers designed for the selective amplification of the Δ8 transcript (7.9F and 10R), the full-length transcript (8.9F and 10R) and total KCNQ1 transcript (9F and 10R). (C) Graph showing the percentage of KCNQ1 transcripts in p.L353L-positive versus p.L353L-negative individuals. (D) Chart and schematic of the statistical model fitted to a binomial distribution used to predict the likelihood of functional Kv7.1 tetramer formation. WT, wild-type.