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. 2013 May 31;8(5):e64603. doi: 10.1371/journal.pone.0064603

Figure 5. Genetic analysis identified a novel de novo PRKAG2 mutation.

Figure 5

(A) Family pedigree of the PRKAG2 mutant carrier. Arrow denotes proband. (B) DNA chromatogram shows a heterozygous A-to-G transition at nucleotide 1453 of PRKAG2, predicting a substitution of a glutamic acid for lysine at residue 485 (p.Lys485Glu) of the AMP-activated protein kinase (AMPK) γ-2 subunit (K485E). (C) Amino acid alignments show that a lysine at position 485 is highly conserved among species. (D) Schematic of AMPK γ-2 subunit and all PRKAG2 mutations discovered by far. Residue K485 is located at the linker between the third CBS domain and the fourth CBS domain.