Figure 1.

Protein Model of POGZ with Currently Identified Mutations Indicated

All mutations (indicated by individual identifiers that correspond to Tables 1 and 2 and Tables S1, S3, and S4) have been annotated on the RefSeq transcript (GenBank: NM_015100.3) (POGZ). Events in red are LGD and blue are missense. Mutations listed on the top of the protein structure have not been previously identified or reported. Mutations listed on the bottom of the protein structure have been published previously. Protein domains are indicated on the structure. Abbreviations are as follows: ZNF, zinc finger; HTH, helix-turn-helix; CC, coiled coil; CHD, congenital heart defect; ASD, autism spectrum disorder; DDD, developmental delay; sib, sibling. Light-gray shaded portions indicate amino acids omitted by alternatively spliced POGZ transcripts (3, POGZ isoform; 2, POGZ isoform 2). ^ΨMutations for which inheritance is unknown. All other mutations are de novo.