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Details of mutation DSG2:R49H

Gene	Mutation	DNA change	Protein change	Exon	Locus	Type	Reported Classification	Grantham Score	SIFT	PolyPhen	Domain	Notes	LOVD ID
DSG2	R49H	c.146G>A	p.Arg49His	3	18q12	Missense	Pathogenic	29	Affect protein function	Probably damaging	Propeptide sequence		DSG2_00007

Clinical reports of this mutation in patients and controls

Article	Article details	Controls	Patient	# Affected Relatives	Notes
Barahona-Dussault et al. Clinical Genetics 2010;77:37-48.	Article details	0/0	TFC+
Fressart et al. Europace 2010;12:861-8.	Article details	0/600	TFC+; n=4
Xu et al. Journal of the American College of Cardiology 2010;55:587-97.	Article details	0/0	TFC+		Also carries PKP2 I531S variant
den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35.	Article details	0/0	TFC+; 2 unrelated probands		Previously reported by Awad et al.
Gandjbakhch et al. Europace 2009;11:379-81.	Article details	0/600	TFC+	0	de novo mutation
Awad et al. American Journal of Human Genetics 2006;79:136-42.	Article details	0/220	TFC+	0	Reported as R48H; Compound heterozygote DSG2 W306X

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SNP reports

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