Table 2 GATA1 expression vectors used in... | American Society of Hematology

Table 2

GATA1 expression vectors used in this study

Name	Patient no.	GATA1 mutation*	Last normal GATA1 amino acid	PTC	Mutation type
WG	–	–	Ser413	–	Normal
SP1	24, 38	intron1 3′ boundary AG>AA	Ser413	–	Splicing error
SP2	41	intron2 5′ boundary GT>GC	Ser413	–	Splicing error
L	46	1 A>C	(Met1 is replaced by Val1)	–	Loss of 1st Met
P1-1	11, 19, 34	90, 91 del AG	Gly31	38	PTC 1-5′
P1-2	14, 16, 18, 47	189 C>A	Tyr62	63	PTC 1-3′
P1-3	25	194 ins 19 bp	Arg64	73	PTC 1-3′
P1-4	17	38, 39 del AG	Ser12	38	PTC 1-5′
P1-5	33	101-108 del 8 bp	Phe33	36	PTC 1-5′
P1-6	50	158 ins 7 bp	Tyr52	69	PTC 1-5′
P1-7	3	174 ins 19 bp	Ala58	73	PTC 1-3′
P1-8	48	188 ins 22 bp	Try62	74	PTC 1-3′
P2-1	21, 22	194 ins 20 bp	Arg64	143	PTC 2
P2-2	44	149 ins 20 bp	Ala49	143	PTC 2
P2-3	29	160 ins TC	Ala53	137	PTC 2

Name	Patient no.	GATA1 mutation*	Last normal GATA1 amino acid	PTC	Mutation type
WG	–	–	Ser413	–	Normal
SP1	24, 38	intron1 3′ boundary AG>AA	Ser413	–	Splicing error
SP2	41	intron2 5′ boundary GT>GC	Ser413	–	Splicing error
L	46	1 A>C	(Met1 is replaced by Val1)	–	Loss of 1st Met
P1-1	11, 19, 34	90, 91 del AG	Gly31	38	PTC 1-5′
P1-2	14, 16, 18, 47	189 C>A	Tyr62	63	PTC 1-3′
P1-3	25	194 ins 19 bp	Arg64	73	PTC 1-3′
P1-4	17	38, 39 del AG	Ser12	38	PTC 1-5′
P1-5	33	101-108 del 8 bp	Phe33	36	PTC 1-5′
P1-6	50	158 ins 7 bp	Tyr52	69	PTC 1-5′
P1-7	3	174 ins 19 bp	Ala58	73	PTC 1-3′
P1-8	48	188 ins 22 bp	Try62	74	PTC 1-3′
P2-1	21, 22	194 ins 20 bp	Arg64	143	PTC 2
P2-2	44	149 ins 20 bp	Ala49	143	PTC 2
P2-3	29	160 ins TC	Ala53	137	PTC 2

– indicates not applicable.

For cDNA nucleotide numbering, nucleotide number 1 corresponds to the A of the ATG translation initiation codon in the reference sequence.