Figure 3.

CXCR4 mutations in WHIM syndrome are located in the C-terminus of the receptor. The 7-transmembrane domain crystal structure of CXCR4 is shown on the left with stars demarcating locations of WHIM mutations. The sequence of the C-tail of the mutant receptors is shown on the right compared to the wild-type sequence. Neo-sequence imposed by frameshift mutations is underlined. The circled amino acid is a missense mutation. The figure is modified and updated from Figure 2 in Reference [43].