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. 2015 Nov 17;5:16609. doi: 10.1038/srep16609

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(a) Number of pathogenic mutations in top 10 putative HCM disease genes. (b) Schematic diagram of the conserved domains of four proteins. Newly found LoF mutations in our study were marked in orange. RYR2 protein: showing the MIR, RyR (ryanodine receptor), SPRY (SPIa/ryanodine receptor), and TM (transmembrane region). CMYA5 protein: showing the TRIM-like region consists of: B-box, BBC (B-box coiled coil), FN3 repeats (fibronectin 3 repeat), and SPRY. MYH15 protein: MYSc (myosin motor) and IQ (isoleucine-glutamine calmodulin-binding motif). OBSCN protein: showing the Ig (immunoglobulin), FN3 repeats, IQ, SH3 (src-homology 3), and DH (dbl homology), PH (pleckstrin homology motif) and SK (serine/threonine kinase). One previously established cardiomyopathy associated mutation in OBSCN was marked in red.