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Frequency and location of 74 different mutations in the KCNQ1 potassium channel involving 581 subjects. The 19 subjects with 3 intron mutations are not included in this diagram. The α subunit involves the N-terminus (N), 6 membrane-spanning segments, and the C-terminus portion (C). The size of the circles reflect the number of subjects with mutations at the respective locations, with the small circles indicating <15, medium-sized circles 15 to 30, and large circles >30 subjects.
