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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients

Fig. 1

Amino acid position Y145 of the Kir2.1 channel is highly conserved in mammals. a Schematic representation of the localization of variant Y145C in a Kir2.1 channel subunit. The detected mutation (indicated by the red dot) results in an amino acid substitution in the pore forming region (H5). b Alignment of the Kir2.1 channel amino acid sequence among mammals. The alignment displays a partial sequence in human (Homo sapiens), mouse (Mus musculus), dog (Canis lupus familiaris), pig (Sus scrofa) and cattle (Bos taurus)

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