CASQ2 mutations

CASQ2

Nucleotide Change	Amino Acid Change	Mutation Type	Protein Domain	SNP ID	Phenotype	References
62delA	L23fs+14X	Deletion/frameshift	n.a.		CPVT⁽¹⁾	Postma et al 2002
97 C>T	R33X	Nonsense	n.a.		CPVT⁽²⁾	Postma et al 2002
98 G>A	R33Q	Missense			CPVT	Terentyev et al 2006
IVS4+1 g>a	--	S.E. / Nonsense	n.a.		CPVT⁽¹⁾	Postma et al 2002
164A>G	Y55C	Missense			CPVT	deLa Fuente 2008
196 A>G	T66A	Missense/cSNP		rs4074536	-	Wong et al. 2009
226 A>G	V76M	Missense/cSNP		rs10801999	-	Wong et al. 2009
339-354del	G112+5X	Deletion/frameshift	Domain I		CPVT	Raffaele di Barletta et al 2006
500 T>A	L167H⁽³⁾	Missense	Domain II		CPVT	Raffaele di Barletta et al 2006
529 G>C	E177Q	Missense	Domain II		CPVT	Wong et al. 2009
-	F189L	Missense	Domain II		CPVT	Liu et al 2008
618 A>C	K206N	Missense	Domain II		CPVT⁽⁵⁾	Kirchhhefer et al. 2010
1038 G>A	D307H⁽⁴⁾	Missense	inter-domain space		CPVT	Lahat et al.2002
923C>T	P308L	Missense	inter-domain space		CPVT	deLa Fuente 2008
1185 C>T	D395D	synonimous SNP		rs7413162	-	Wong et al. 2009

CPVT=Catecholaminergic Ventricular Tachycardia; (1)-Associated with CPVT phenotype only in the homozygous carriers. Heterozygous patients showed normal phenotype. (2)-The proband was heterozygous; in this family the CASQ2-related disease could be autosomal dominant but with a mild phenotype and very low penetrance .(3)- Compund heterozygous with G112+5X; (4)- Seven consenguineous families. ⁽⁵⁾ Possible autosomal dominat transmission