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. 2017 Oct 8;2017:3470234. doi: 10.1155/2017/3470234

Figure 2.

Figure 2

The PGAP2 mutation, domain architecture, conservation, and expression pattern: (a) Sanger sequencing of an obligatory carrier (III-1), an affected individual (IV-3), and an unaffected individual (IV-2). (b) The predicted domain architecture of PGAP2, showing its Frag1 domain. The p.(Arg185Gln) mutation is marked in red. Blue arrows highlight additional PGAP2 mutations previously shown to cause hyperphosphatasia with mental retardation syndrome (HPMRS). (c) Multiple sequence alignment of selected PGAP2 orthologues. The mutation is predicted to cause p.(Arg185Gln) (boxed in black) at a highly conserved arginine residue within the putative Frag1 domain of PGAP2. (d) RT-PCR of 21 normal human tissues demonstrating the expression pattern of PGAP2.