Fig. 3From: Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencingTwo de novo mutations of ARID1B gene in case 2 and case 3. a Genomic structure of ARID1B gene; Thin box represents exons, line represents introns. b Sanger sequencing of the two single-nucleotide mutations. c Conservational analysis of the sequences around the two mutations in different organisms. d Location of the p.Q1581X in the protein sequence of ARID1BBack to article page