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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature

Fig. 1

Genetic analysis identified a novel de novo PRKAG2 mutation. a Family pedigree of the PRKAG2 mutant carrier. Black arrow shows proband and slants denote dead individuals. b DNA chromatogram shows a heterozygous A-to-T transition at nucleotide 592 of PRKAG2, predicting a substitution of a methionine for isoleucine at residue 198 (p.Met198Lue) of the AMP-activated protein kinase (AMPK) γ-2 subunit (M198L). + indicates mutation positive, − indicates mutation negative, and ? indicates no analysis. PRKAG2, RefSeq NM_001040633.1

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BMC Medical Genomics

ISSN: 1755-8794

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