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Details of mutation DSG2:V158G

Gene	Mutation	DNA change	Protein change	Exon	Locus	Type	Reported Classification	Grantham Score	SIFT	PolyPhen	Domain	Notes	LOVD ID
DSG2	V158G	c.473T>G	p.Val158Gly	5	18q12	Missense	No known pathogenicity	109	Affect protein function	Probably damaging	Cadherin 1		DSG2_00016

Clinical reports of this mutation in patients and controls

Article	Article details	Controls	Patient	# Affected Relatives	Notes
Bhuiyan et al. Circulation Cardiovascular Genetics 2009;2:418-27.	Article details	3/300	TFC+		Carries DSG2 R46Q mutation
den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35.	Article details	0/0			Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation
Posch et al. Molecular Genetics and Metabolism 2008;95:74-80.	Article details	4/360			Polymorphism?
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+	5	From two different families

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SNP reports

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