Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients

Table 1 Summary of Mutational analyses of X-linked CGD patients

Patients	CGD variant	Mutation	Position	Bioinformatic pathogenicity				Reference
				Mutation Taster	Polyphen2	SIFT	Proven
				Disease causing	Damaging	Damaging	Deleterious
P1*	X91⁻	c.925G > A/p.E309K	Exon 9	+	+	+	+	[22, 23]
P2*	X91⁻	c.925G > A/p.E309K	Exon 9	+	+	+	+	[22, 23]
P3*	X91^o	c.216T > A/p.C72X	Exon 3	+	NA	NA	NA	Novel
P4*	X91^o	c.216T > A/p.C72X	Exon 3	+	NA	NA	NA	Novel
P5	X91⁻	c.732T > G/p.C244W	Exon 7	+	+	+	-	Novel

Symbols: *(brother), + (pathogenic), - (not pathogenic), NA (not applicable), X91⁻(reduced), X91^o (absent)

ISSN: 1824-7288