The Role of Z-disc Proteins in Myopathy and Cardiomyopathy

Figure 1. Schematic representation of α-actinin shown as a dimer with variants in the ACTN2 gene that have been previously reported in individuals with myopathy (red) or cardiomyopathy (black). Solid lines represent missense variants. ABD—actin binding domain, EFh—EF hand, SR—spectrin like repeat. Created with BioRender.com (accessed on 7 March 22021). Adapted from [16].

Figure 2. Schematic representation of Filamin C shown as a dimer with missense variants in the FLNC gene that have been previously reported in individuals with myopathy (red) or cardiomyopathy (black). ABD—actin binding domain, Ig—immuno-globulin like domain. For truncating variants, please refer to Table 2. Created with BioRender.com (accessed on 7 March 2021).

Figure 3. Schematic representation of Myopalladin shown as a monomer with variants in the MYPN gene that have been previously reported in individuals with myopathy (red) or cardiomyopathy (black). Solid lines represent missense variants and dashed lines are truncations. Ig—immuno-globulin like domain, IS—interdomain insertion, Pro-rich—Proline-rich. Created with BioRender.com (accessed on 7 March 2021).

Figure 4. Schematic representation of Myotilin shown as a monomer with variants in the MYOT gene that have been previously reported in individuals with myopathy (red). Solid lines represent missense variants. Ig—immuno-globulin like domain, Ser-rich—Serine-rich, PBM—PDZ-binding motif. Created with BioRender.com (accessed on 7 March 2021).

Figure 5. Schematic representation of Telethonin shown as a monomer with variants in the TCAP gene that have been previously reported in individuals with myopathy (red) or cardiomyopathy (black). Solid lines represent missense variants and dashed lines are truncations. TB—titin binding domain. Created with BioRender.com (accessed on 7 March 2021).

Figure 6. Schematic representation of ZASP shown as a monomer with variants in the LDB3 gene that have been previously reported in individuals with myopathy (red) or cardiomyopathy (black). Solid lines represent missense variants. LIM—Lin-11 Isl-1 Mec-3 (LIM) domain, PDZ—PDZ domain, ZM—ZASP-like motif. Created with BioRender.com (accessed on 7 March 2021).