Table 2. Summary of biochemical and... | American Society of Hematology

Table 2.

Summary of biochemical and sequence data in 6 patients with A47⁰ CGD

Patient (sex)	Mutation(s)	CGD phenotype		Nucleotide change	Amino acid change
Patient (sex)	Mutation(s)	p47-phox by immunoblot	$O_{2}^{-}$ production	Nucleotide change	Amino acid change
1 (F)	Deletion	Absent	0	GT73-74 deleted	Frameshift, stop at codon 51
	Splice site			5′ intron 1 gt → at	Splicing defect
2 (F)	Deletion	Absent	0	GT73-74 deleted	Frameshift, stop at codon 51
	Splice site			5′ intron 1 gtg → gtt	Splicing defect
3 (M)	Deletion	−^*	<3%	GT73-74 deleted	Frameshift, stop at codon 51
	Missense			G784 → A	Gly262 → Ser
4 (M)	Deletion	Absent	0	GT73-74 deleted	Frameshift, stop at codon 51
	Missense			G125 → A	Arg42 → Gln
5 (M)	Missense	Absent	0	G125 → A	Arg42 → Gln
	Deletion			G811 deleted	Frameshift
6 (M)	Missense or splice site (?homozyg)	Absent	0	G574 → A	Gly192 → Ser or splicing defect (see text)

Patient (sex)	Mutation(s)	CGD phenotype		Nucleotide change	Amino acid change
Patient (sex)	Mutation(s)	p47-phox by immunoblot	$O_{2}^{-}$ production	Nucleotide change	Amino acid change
1 (F)	Deletion	Absent	0	GT73-74 deleted	Frameshift, stop at codon 51
	Splice site			5′ intron 1 gt → at	Splicing defect
2 (F)	Deletion	Absent	0	GT73-74 deleted	Frameshift, stop at codon 51
	Splice site			5′ intron 1 gtg → gtt	Splicing defect
3 (M)	Deletion	−^*	<3%	GT73-74 deleted	Frameshift, stop at codon 51
	Missense			G784 → A	Gly262 → Ser
4 (M)	Deletion	Absent	0	GT73-74 deleted	Frameshift, stop at codon 51
	Missense			G125 → A	Arg42 → Gln
5 (M)	Missense	Absent	0	G125 → A	Arg42 → Gln
	Deletion			G811 deleted	Frameshift
6 (M)	Missense or splice site (?homozyg)	Absent	0	G574 → A	Gly192 → Ser or splicing defect (see text)

Blots were uninformative (see text).