Fig. 3

Location of PHEX and DMP1 variants identified in the present study. (A) The bar with numbers represents the 22 exons of the PHEX cDNA. Diagram of the PHEX protein shows the three domains including the N-terminal cytoplasmic domain, the transmembrane domain, and the extracellular domain with conserved cysteine residues (C) and the zinc-binding motifs (Zn). (B) Schematic representation of the DMP1 gene. The numbers represent the 6 exons of the DMP1 gene. The two novel PHEX and DMP1 variants are in bold