Analysis of NCF4 and patient pedigree. (A) Chromatograms corresponding to the wild-type and patient sequences in NCF4 exons 3 and 4. The alleles present in the mother and father are as indicated; nucleotides that are duplicated in 3957_3966dup (exon 3) and the point mutation g.6263G>A (exon 4) are outlined by a black line. Nucleotide positions are based on the gDNA sequence, reported as the NCBI Reference Sequence number NC_000022.³⁷  (B) Location of the NCF4 mutations in a schematic of p40^phox. Amino acid positions are based on NCBI Reference Sequence number NP_000622 (from NM_000631; for isoform 1, containing 339 amino acids).³⁷  Predicted functional domains shown include a PX (phagocyte oxidase homology) domain (position 19 to 140), SH3 domain (position 175 to 225), and PB1 (phagocyte oxidase and Bem1p) domain (position 285 to 306).²  (C) Pedigree of the patient's family. Squares represent male family members and circle, the female family member; genotypes for the NCF4 alleles at the protein level are shown.