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Novel FKTN mutation. The relative locations of the exon 4 and exon 5 mutations are mapped on a diagram of Fukutin. Additionally, the location of the transmembrane domain (TMD) and the conserved DxD motif are indicated. Alignment of Fukutin amino acid sequences surrounding the novel exon 5 mutation demonstrates conservation of the F176 residue in human, chimpanzee, dog, mouse, rat, chicken, and frog.
