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. Author manuscript; available in PMC: 2011 Feb 24.
Published in final edited form as: J Med Genet. 2008 Oct 23;46(2):103–111. doi: 10.1136/jmg.2008.060905

Figure 2.

Figure 2

TGase-1 alignments showing amino acid sequence comparisons among human, dog and mouse. Boxes indicate amino acid residues within the TGase-1 domains. Yellow characters indicate the amino acid positions where missense mutations were identified. Triangles represent active site residues (Cys377, His436, Asp459). The 22 TGM1 missense mutations identified in our cohort are marked.