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. 2020 Aug 17;15(8):e0237814. doi: 10.1371/journal.pone.0237814

Fig 1. Schematic structure of the human MAGEL2 and mice Magel2.

Fig 1

(A) Human MAGEL2 contains a proline-rich region (residues 13–700), USP7 binding site (U7BS: residues 949–1004), and MAGE homolog domain (MHD: residues 1020–1219). Truncating variants reported previously are indicated by their positions (top; frameshift variants, bottom: nonsense variants). The mutation hotspot is located at nucleotides c.1990-1996. Over half of SYS patients carried c.1996dupC:p.(Q666Pfs*47) in MAGEL2 (in red text). (B) Mouse Magel2 contains proline-rich region (residues 13–646) and MHD (residues 1052–1251).