Table 2. Previously Undescribed Pyruvate... | American Society of Hematology

Table 2.

Previously Undescribed Pyruvate Kinase Mutations

Patient No.	cDNA Nucleotide	Genomic Nucleotide^*	Exon	Base Substitution	Amino Acid No.	Amino Acid Substitution	Detection Method	Other Allele
1	476	2757	4	G → T	159	Gly → Val	+Kpn I	1529A
2	884	3660	6	C → T	295	Ala → Val	−Tse I	Normal
3	943	3719	6	G → A	315	Glu → Lys	+MseI	1456T
4	1022	3894	7	G → A	341	Gly → Asp	−SfaNI	993A
5	1022	3894	7	G → A	341	Gly → Asp	−SfaNI	?
6	1511	6360	10	G → T	504	Arg → Leu	−Aci I	1511T
7	1528	6377	10	C → T	510	Arg → Ter	+Dde I	Normal

Patient No.	cDNA Nucleotide	Genomic Nucleotide^*	Exon	Base Substitution	Amino Acid No.	Amino Acid Substitution	Detection Method	Other Allele
1	476	2757	4	G → T	159	Gly → Val	+Kpn I	1529A
2	884	3660	6	C → T	295	Ala → Val	−Tse I	Normal
3	943	3719	6	G → A	315	Glu → Lys	+MseI	1456T
4	1022	3894	7	G → A	341	Gly → Asp	−SfaNI	993A
5	1022	3894	7	G → A	341	Gly → Asp	−SfaNI	?
6	1511	6360	10	G → T	504	Arg → Leu	−Aci I	1511T
7	1528	6377	10	C → T	510	Arg → Ter	+Dde I	Normal

*cDNA and genomic nucleotide are numbered from the initiator ATG of the PK-R gene.