Xenbase Image ID: 139752

Figure 1. Mutation detection by sequence analysis of the KCNJ2 coding region. (A) Pedigree of the family harboring a novel mutations in KCNJ2. Squares are males and circles females; solid black symbols represent propositi and slash deceased individual. (B) ECG recording from propositi showing shortened QT interval (heart rate, 87 bpm; QT 275 ms; paper speed 25 mm/s). (C) Electropherograms showing the heterozygous c.1037A>C transition (arrow-headed), predicting a novel non-synonymous p.K346T variant in propositi compared with the sequence of a healthy individual (WT). (D) Alignments of several KCNJ2 sequences flanking the K346T substitution (K/T, arrow-headed) showing that this residue is highly conserved in several vertebrate species. (E) Schematic representation of the membrane topology of a human Kir2.1 subunit indicating the position of the p.K346T variant. Image published in: Ambrosini E et al. (2014) © The Author 2014. This image is reproduced with permission of the journal and the copyright holder. This is an open-access article distributed under the terms of the Creative Commons Attribution license Larger Image Printer Friendly View

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