Table 4. Polymorphisms identified in the... | American Society of Hematology

Table 4.

Polymorphisms identified in the CYBA gene

Nucleotide change	Amino acid change
−37 intron 1 3′ a → g	N/A	1 normal homozygous g
		3 normal heterozygotes
		6 normal homozygous a
A179 → C	Lys60 → Thr	1 normal heterozygote
		59 normal homozygous A
C214 → T	His72 → Tyr	Previously reported¹³
G403 → A	Glu135 → Lys	Healthy mother of patient 1 homozygous
G480 → A	Silent	2 normal homozygous A
		3 heterozygous
		42 normal homozygous G
		Previously reported¹⁶
C521 → T	Ala174 → Val	3 normal homozygous T
		8 normal homozygous C
		Previously reported¹³
+24 of 3′ untranslated	N/A	3 normal homozygous g
		1 heterozygote
		7 homozygous a
		Previously reported¹⁶

Nucleotide change	Amino acid change
−37 intron 1 3′ a → g	N/A	1 normal homozygous g
		3 normal heterozygotes
		6 normal homozygous a
A179 → C	Lys60 → Thr	1 normal heterozygote
		59 normal homozygous A
C214 → T	His72 → Tyr	Previously reported¹³
G403 → A	Glu135 → Lys	Healthy mother of patient 1 homozygous
G480 → A	Silent	2 normal homozygous A
		3 heterozygous
		42 normal homozygous G
		Previously reported¹⁶
C521 → T	Ala174 → Val	3 normal homozygous T
		8 normal homozygous C
		Previously reported¹³
+24 of 3′ untranslated	N/A	3 normal homozygous g
		1 heterozygote
		7 homozygous a
		Previously reported¹⁶