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. 2022 Feb 3;15:805158. doi: 10.3389/fnmol.2022.805158

FIGURE 1.

FIGURE 1

Patient mutations in the BAF53B gene. (A) The BAF53B gene locus. Each circle represents a nucleotide position where a mutation was found by whole exome sequencing. Black boxes represent exons and nucleotide position of the mutation is in the coding sequence (c.). Scale is in base pairs. (B) The BAF53B protein. Each circle represents an amino acid position where a mutation was found by whole exome sequencing. The most divergent regions of BAF53B, SB2, is located in amino acids 39–82 (blue). The HD, predicted to form protein-protein interactions with other nBAF subunits, is located in amino acids 323–333 (purple). Scale is in amino acids. Recessive mutations are in black text and dominant mutations in red text.