Figure 3

CDC73-NTD harbors all reported pathogenic missense mutations. (a) Domain structure of CDC73 shows that four characterized pathogenic mutations are clustered in CDC73-NTD. (b) Positions of those four pathogenic missense mutations are labeled in the structure of CDC73-NTD. (c) Sequence alignment of CDC73(1–111) from ten species shows that CDC73-NTD is evolutionarily conserved from yeast to human. The
indicate positions of CDC73 pathogenic missense mutations. The ▴ mark residues forming the hydrophobic groove of CDC73-NTD.