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. 2016 Apr 7;3:16004. doi: 10.1038/hgv.2016.4

Figure 1.

Figure 1

(a) Electropherogram of CHD7 (NM_017780.3) exon 12 and flanking intron 11 sequences showing the monoallelic germline mutation NM_017780.3:c.2966del (arrowhead) in the patient’s DNA. The DNA and corresponding amino acid sequences of the wild-type and mutant CHD7 alleles are also shown. (b) A schematic representation of the CHD7 protein. Domains are depicted approximately to the scale adapted from human reference sequence (NM_017780.3(CHD7_i001)) and reference 17. The arrowhead shows the position corresponding to the mutation. BRK, Brahma and Kismet domain; Chromo, chromodomain; DEXDC, DEAD-like helicase superfamily including an ATP-binding domain; Helicase C, helicase superfamily C-terminal domain; SANT, switching-defective protein 3, adaptor 2, nuclear receptor corepressor, transcription factor IIIB domain; SNF2 N, SNF2 family N-terminal domain.