cge12225-sup-0001-FigureS1.pdfPDF document165KFig.S1Protein structure of SMARCB1, SMARCA4, and ARID1B with functional domains. Mutations identified in this study are indicated above the structure, and those identified in the previous study and other studies corresponding to Coffin–Siris syndrome or ID [11, 12] are indicated below the structure. SMARCB1 contains two sucrose non-fermenting 5 (SNF5) domains. SMARCA4 contains a conserved Gln, Leu, Gln (QLQ) motif, a helicase/SANT-associated (HSA) domain, a Brahma and Kismet (BRK) domain, DEAD-like helicases superfamily (DEXDc) and helicase superfamily c-terminal (HELICc) domains, and a bromodomain (BROMO). ARID1B contains an ARID/BRIGHT DNA-binding (ARID) domain.
cge12225-sup-0002-FigureS2.pdfPDF document81KFig.S2Number of Coffin–Siris syndrome patients with a mutation in each SWI/SNF complex subunit gene.

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