Table 1. Summary of mutations and... | American Society of Hematology

Table 1.

Summary of mutations and polymorphisms reported in the γ-GCS_H gene and subsequent analysis in our γ-GCS-deficient patient-derived cell lines

Report	Sequence	Location	Patient 1	Patient 2	References
Polymorphic trinucleotide repeat	A1: 9 GAG	5′ UTR cDNA - 10 to -30: 5 alleles	A1	A2	5, 26
	A2: 8 GAG
	A3: 7 GAG
	A4: 10 GAG
	A5: 4 GAG
Tetranucleotide insertion	CAGC	3′ UTR cDNA 1972-1975 (f = 0.89)	+	+	8
Mutation	A > T: predicts an amino acid change of His370Leu	cDNA 1109	-	-	8
Mutation	C > T: predicts an amino acid change of Pro158Leu	cDNA 473	-	-	11

Report	Sequence	Location	Patient 1	Patient 2	References
Polymorphic trinucleotide repeat	A1: 9 GAG	5′ UTR cDNA - 10 to -30: 5 alleles	A1	A2	5, 26
	A2: 8 GAG
	A3: 7 GAG
	A4: 10 GAG
	A5: 4 GAG
Tetranucleotide insertion	CAGC	3′ UTR cDNA 1972-1975 (f = 0.89)	+	+	8
Mutation	A > T: predicts an amino acid change of His370Leu	cDNA 1109	-	-	8
Mutation	C > T: predicts an amino acid change of Pro158Leu	cDNA 473	-	-	11