Locus table - synopsis - polymorphisms

OMIM: # 604772 - - *114251

Gene - Protein -

Nucleotide: NM_001232 - XM_010544

Amino Acid Change
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

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