Figure 2.

CHD4 Variants and Amino Acid Sequence Conservation

(A) CHD4 protein domains and location of amino acid substitutions. Abbreviation: PHD, plant homeodomain zinc fingers.

(B) Protein alignment of CHD4 orthologs across several vertebrate species and yeast. We also aligned with the ATP-dependent helicase SMARCA2 and SMARCA4. The Arg1127, Trp1148, and Arg1173 positions are conserved down to yeast. The p.Arg1127Gln and p.Trp1148Leu variants are located at the helicase motifs V and Vb, respectively.⁶, ²⁸