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. Author manuscript; available in PMC: 2018 Aug 3.
Published in final edited form as: JACC Clin Electrophysiol. 2018 Feb 2;4(4):504–514. doi: 10.1016/j.jacep.2017.12.003

FIGURE 2. Structural Distribution of Truncating Variants in the Human FLNC Protein.

FIGURE 2

Schematic of the FLNC immunoglobulin-like repeats labeled 1 to 24 using transcript NP_001449.3. Hinge 1 and 2 domains are labeled as H1 and H2, respectively. Red vertical lines indicate protein positions of the 6 FLNC truncation variants detected in our dilated cardiomyopathy (DCM) families. Black vertical lines represent previously reported hypertrophic cardiomyopathy (HCM) (7), restrictive cardiomyopathy (RCM) (8), DCM variants (12), and myofibrillar skeletal myopathies (MFM) (6) variants.