Supplementary Materials

The PDF file includes:

  • Materials and Methods
  • Fig. S1. Pedigrees of families with non-CPVT–associated RyR2 mutations.
  • Fig. S2. Non-CPVT–associated RyR2 mutations suppress caffeine-induced Ca2+ release.
  • Fig. S3. Effects of mutations on the expression and function of RyR2.
  • Fig. S4. The D4646A mutation suppresses Ca2+ activation of single RyR2 channels in lipid bilayers.
  • Fig. S5. Generation and functional characterization of knock-in mouse model expressing the RyR2 mutation D4646A+/−.
  • Fig. S6. Effects of RyR2-D4646A+/− on caffeine-promoted spontaneous Ca2+ release and depolarization-induced Ca2+ transients.
  • Fig. S7. Effects of RyR2-D4646A+/− on Ca2+ alternans and Ca2+ release refractoriness.
  • Fig. S8. Effects of RyR2-D4646A+/− on the Ito current, cardiac structure and fibrosis, L-type Ca2+ channel surface expression, and oxidative stress.
  • Fig. S9. Effects of RyR2-D4646A+/− on the expression of Ca2+ handling proteins, ion channels, and their associated proteins.
  • Fig. S10. Effects of RyR2-D4646A+/− on the expression of Ca2+ handling protein, ion channel, phosphatases, and kinases.
  • Fig. S11. Effects of RyR2 mutations on Ca2+ transients and SR Ca2+ contents.
  • Fig. S12. Electrical conduction in the RyR2-WT and D4646A+/− hearts.
  • Table S1. LOD scores for each family specified by RYR2 mutation.
  • Table S2. Echocardiographic parameters of RyR2-WT and D4646A+/− mutant mice.
  • References (4254)

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Other Supplementary Material for this manuscript includes the following:

  • Data file S1 (Microsoft Excel format). Individual subject-level data.