Table 1. Gene Mutations and Heme Spectra... | American Society of Hematology

Table 1.

Gene Mutations and Heme Spectra of the Patients With CGD

Patient	O₂^-Generating Activity	Exon	Nucleotide Change	Predicted Amino Acid Change	Immunoblot cyt b		Heme Spectrum 558 nm	CGD Type
Patient	O₂^-Generating Activity	Exon	Nucleotide Change	Predicted Amino Acid Change	α	β	Heme Spectrum 558 nm	CGD Type
T.M.	−	12	T1558 → C	Trp516 → Arg	−	−	−	X91⁰
T.H.	±	9	G937 → A	Glu309 → Lys	+	±	±	X91⁻
J.O.	−	10	T1271 → C	Leu420 → Pro	−	−	−	X91⁰
T.K.^*	−	4	C313 → T	His101 → Tyr	±	±	−	X91⁻

Patient	O₂^-Generating Activity	Exon	Nucleotide Change	Predicted Amino Acid Change	Immunoblot cyt b		Heme Spectrum 558 nm	CGD Type
Patient	O₂^-Generating Activity	Exon	Nucleotide Change	Predicted Amino Acid Change	α	β	Heme Spectrum 558 nm	CGD Type
T.M.	−	12	T1558 → C	Trp516 → Arg	−	−	−	X91⁰
T.H.	±	9	G937 → A	Glu309 → Lys	+	±	±	X91⁻
J.O.	−	10	T1271 → C	Leu420 → Pro	−	−	−	X91⁰
T.K.^*	−	4	C313 → T	His101 → Tyr	±	±	−	X91⁻

Abbreviations: detectable, (+); undetectable, (−); slightly detectable, (±); α (p22-phox) and β (gp91-phox) subunits of cytochrome b₅₅₈, (cytb).

Tsuda et al.11