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

Table 1.

Summary of CEBPA mutations detected in patient samples

Patient no.	Age, y	FAB	Base pair change	Amino acid change
1	46	1	213del	S18fsX159
2	63	1	397del	Q83fsX159
3	23	2	503del	A118fsX159
4	54	1	4-bp duplication of nt 436-439	P97fsX108
5	64	4	330-331ins4bp	S61fsX108
6	35	5	389-390insG	D80fsX107
7	25	4	325G>T	Stop at Glu59
7′	—	—	1067-1084del	In-frame deletion of Arg-Asn-Val-Glu-Thr-Gln
8^*	51	4	217-218ins	P20fsX160
8′	—	—	1062-1063ins3bp	In-frame addition of Leu304
9	42	1	383del	L78fsX159
9′	—	—	3-bp duplication of nt 1086-1088	In-frame duplication of Lys312
10	39	1	238-239del	A30fsX106
10′	—	—	3-bp duplication of nt 1086-1088	In-frame duplication of Lys312
11	36	1	5-bp duplication of nt 230-234	S27fsX161
11′	—	—	1071-1076del	In-frame deletion of Val-Glu, Asn306Lys
12	57	2	433-434insG	V95fsX107
12′	—	—	857-869del	H236fsX313
13	50	5	890-941del	P247fsX310
14^†	44	1	1108-1119del	In-frame deletion of Asp-Asn-Asp-Arg
15	58	1	1070-1071ins3bp	In-frame addition of His307
15′	—	—	1188-1191del	E347fsX383

Patient no.	Age, y	FAB	Base pair change	Amino acid change
1	46	1	213del	S18fsX159
2	63	1	397del	Q83fsX159
3	23	2	503del	A118fsX159
4	54	1	4-bp duplication of nt 436-439	P97fsX108
5	64	4	330-331ins4bp	S61fsX108
6	35	5	389-390insG	D80fsX107
7	25	4	325G>T	Stop at Glu59
7′	—	—	1067-1084del	In-frame deletion of Arg-Asn-Val-Glu-Thr-Gln
8^*	51	4	217-218ins	P20fsX160
8′	—	—	1062-1063ins3bp	In-frame addition of Leu304
9	42	1	383del	L78fsX159
9′	—	—	3-bp duplication of nt 1086-1088	In-frame duplication of Lys312
10	39	1	238-239del	A30fsX106
10′	—	—	3-bp duplication of nt 1086-1088	In-frame duplication of Lys312
11	36	1	5-bp duplication of nt 230-234	S27fsX161
11′	—	—	1071-1076del	In-frame deletion of Val-Glu, Asn306Lys
12	57	2	433-434insG	V95fsX107
12′	—	—	857-869del	H236fsX313
13	50	5	890-941del	P247fsX310
14^†	44	1	1108-1119del	In-frame deletion of Asp-Asn-Asp-Arg
15	58	1	1070-1071ins3bp	In-frame addition of His307
15′	—	—	1188-1191del	E347fsX383

afsXb indicates a frameshift mutation of the amino acid at position “a” inducing a stop codon at position “b.”

Patient 8 had 2 different mutations located on the same allele.

Patient 14 had homozygous deletion.