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Structure of CAPN3 gene, wild-type and mutated CAPN3 proteins. (A) CAPN3 gene contains 24 exons. Location of the splice site (c.2440-1G>A) mutation is indicated. (B) Wild-type CAPN3 protein is a multidomain protease with 821 amino acids. (C) Mutated CAPN3 protein comprised of 813 amino acids with partial loss of domain IV (PEF domain). CAPN3, calpain 3.
