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. 2022 Dec 17;23(24):16139. doi: 10.3390/ijms232416139

Table 1.

List of the main human CaMs gene polymorphisms. CaM polymorphisms are associated with a spectrum of arrhythmic phenotypes. Adapted from Kotta et al. [61].

Gene Nucleotide Change Amino Acid Change Associated Phenotype Refs.
CALM1 c.389A>G p.D130G LQTS [59,61]
CALM1 c.426C>G p.F142L LQTS [59,61]
CALM1 c.161A>T p.N54I CPVT [61,66]
CALM1 c.293A>G p.N98S LQTS, CPVT [61,66]
CALM1 c.268T>C p.F90L IVF, SUD [67,69]
CALM1 c.395A>T p.D132V LQTS [64]
CALM2 c.293A>G p.N98S LQTS, SUD [61,62,68]
CALM2 c.287A>T p.D96V LQTS [59,61]
CALM2 c.293A>T p.N98I LQTS [61,62]
CALM2 c.400G>C p.D134H LQTS [38,39]
CALM2 c.389A>G p.D130G LQTS [61]
CALM2 c.396T>G p.D132E LQTS, CPVT [61,62]
CALM2 c.394G>C p.D132H LQTS [64]
CALM2 c.407A>C p.Q136P LQTS, CPVT [62]
CALM3 c.389A>G p.D130G LQTS [61,63]
CALM3 c.308C>T p.A103V CPVT [61]
CALM3 c.286G>C p.D96H LQTS [61,65]
CALM3 c.426T>G p.F142L LQTS [61,65]