Fig. 1.

Identification of KCNJ11 mutations. (a) Schematic illustration of KCNJ11 and the corresponding domains in Kir6.2. Numbers refer to the amino acids bordering the domains. Filled arrows indicate the mutations identified in KCNJ11. Dashed arrows indicate single-nucleotide polymorphisms (SNPs) identified in KCNJ11. The gene borders were determined based on mammalian homology using published data [8, 9]. N, N-terminus; C, C-terminus; TM1, first TM domain; H5, pore loop domain; TM2, second TM domain. (b) Alignment of specific regions of KCNJ11/Kir6.2 from different mammals using ClustalX. (1) Entire 68-amino acid N-terminal domain of KCNJ11/Kir6.2; the R27 residue is indicated. (2) Portion of the C-terminal domain of KCNJ11/Kir6.2; the R192 residue is indicated. (c) Fragment of the KCNJ11/Kir6.2 sequence; the S116F117del is indicated. The corresponding amino acid sequences of wild-type Kir6.2 and the S116F117del mutation (mt) are shown; the S116F117del results in truncated Kir6.2 lacking two amino acids (Ser116 and Phe117)