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Details of mutation DSG2:V56M

Gene	Mutation	DNA change	Protein change	Exon	Locus	Type	Reported Classification	Grantham Score	SIFT	PolyPhen	Domain	Notes	LOVD ID
DSG2	V56M	c.166G>A	p.Val56Met	3	18q12	Missense	Unknown/UV	21	Affect protein function	Benign	Cadherin 1		DSG2_00008

Clinical reports of this mutation in patients and controls

Article	Article details	Controls	Patient	# Affected Relatives	Notes
Elliott et al. Circulation Cardiovascular Genetics 2010;3:314-22.	Article details	1/200	DCM
Xu et al. Journal of the American College of Cardiology 2010;55:587-97.	Article details	0/0			See Dalal et al.
Bhuiyan et al. Circulation Cardiovascular Genetics 2009;2:418-27.	Article details	0/300	TFC- (1 major OR 2 minor)
Dalal et al. Journal of the American College of Cardiology 2009;53:1289-99.	Article details	0/400	TFC+	1	Proband: digenic and compound heterozygote: PKP2 S140F, PKP2 c.2146-1G>C and DSG2 V56M. Offspring has different combinations of two of these mutations
den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35.	Article details	0/0	TFC+		Share conclusion that V56M likely plays a contributory role. See Dalal et al.
Posch et al. Molecular Genetics and Metabolism 2008;95:74-80.	Article details	3/617	fDCM	1	13 unrelated DCM subjects were identified; susceptibility variation?
Posch et al. Nature Clinical Practice Cardiovascular Medicine 2008;5(12):E1.	Article details
Syrris et al. European Heart Journal 2007;28:581-8.	Article details	0/400	TFC+	0

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