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Figure 1 Mutations causing the long QT syndrome in the sodium channel protein (SCN5A, top) and potassium channel protein complexes IKs, encoded by KvLQT1 and minK and IKr, encoded by HERG and MiRP1. The arrows show the locations of the pores through which sodium or potassium ions permeate. The unfilled symbols show the location of mutations reported in the autosomal dominant Romano-Ward form of the syndrome and the gray symbols are those associated with the autosomal recessive form (Jervell-Lange-Nielsen). Point mutations are shown by circles, insertion/deletion events or splice events that leave the open reading frame intact are shown by squares and truncations are shown by triangles (adapted from reference [44] with permission). HERG = human "ether-a-go-go" related gene; MiRP1 = minK related peptide 1; SCN5A = cardiac voltage-dependent sodium channel gene.
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