PRKAG2

This page contains an overview of the genetic variation in the PRKAG2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

PRKAG2 gene and transcript details

Gene Name
protein kinase, AMP-activated, gamma 2 non-catalytic subunit

Gene Links
Ensembl: ENSG00000106617 - Locus Reference Genomic: LRG_430

Genomic Location
Chromosome 7 : 151,254,287 - 151,573,705 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (1707 bases)	Protein (569 aa)
	ENST00000287878	ENSP00000287878
	LRG_430t1	LRG_430p1
	NM_016203.3
		Q9UGJ0

Summary of PRKAG2 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.01057	0.00532	0.53%
Truncating	0.00050	0.00012	0.04%
Non-Truncating	0.01007	0.00520	0.49%

Based on an analysis of rare variants (MAF<0.0001) in PRKAG2 detected in a cohort of 3973 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00366	0.00532	-0.17%
Truncating	0.00000	0.00012	-0.01%
Non-Truncating	0.00366	0.00520	-0.15%

Based on an analysis of rare variants (MAF<0.0001) in PRKAG2 detected in a cohort of 546 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

PRKAG2 variants in ExAC

Details of the protein-altering PRKAG2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

	Total Variants	Combined frequency of rare variants
All Variants	196	0.00312
Truncating	4	0.00006
Missense	164	0.00258
Inframe	1	0.00001
Splice Site	27	0.00047

Rare variants are defined as having a mean allelic frequency of less than 0.0001.