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Figure 1. Schematic of the de novo nonsense heterozygous mutation (c.2722G>T, p.E908X) in exon 22 of MY10 (uc002gll.3). Top: 41 exons of MY10 gene with black bars represent coding exons. The c.2722G>T mutation is indicated Middle: MY10 protein showing the N terminal SH3-like domain, motor domain, and myosin tail. Bottom: Cross species amino acid alignment of a portion of MY10 indicating the glutamate 908 mutated position.
