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. 2016 Aug 18;6(10):3307–3316. doi: 10.1534/g3.116.033696

Figure 1.

Figure 1

Rare nonsynonymous variants identified in DNAAF1. (A and B) Schematic representations of gene DNAAF1 (RefSeq: NG_021174.1 and NM_178452.4) with the approximate locations of the rare nonsynonymous variants identified in the current study. (C) Mutations identified in two NTD patients were confirmed by repeating Sanger sequencing. (D) The evolutionary conservation of the p.231K. Clustal X protein sequence alignment of human DNAAF1 with orthologs from other species was displayed. The green arrowhead points to the residue K of 231 amino acid. (E) Functional prediction with SIFT and PolyPhen-2.