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. 2014 Oct 7;9(10):e109178. doi: 10.1371/journal.pone.0109178

Figure 3. Mutations analysis and conservations of the identified variants in the MYH14 and WFS1 genes.

Figure 3

Chromatogram of exon 3 of the MYH14 gene showing heterozygous mutation c.541G>A in affected individuals (left panel; arrow) and heterozygous mutation c.449C>T in exon 4 of the WFS1 gene (right panel; arrow) (A). Protein sequence alignment showing conservation of residues MYH14 A181 (left panel; arrow) and WFS1 A150 (right panel; arrow) across six species. Sequence alignment of the non-muscle class II myosin showing conservation of MYH14 A181 (left panel; red underlined) (B). Diagram of the human MYH14 consisting of a N-terminal myosin domain, a myosin head region, a motor domain, two IQ motifs, a coiled-coil region and a tail domain (C).