Table 1

CEBPA mutations and predicted effects

Pt no.BP changeAA changePredicted effect
322-323insT Y108fsX169 N-terminal Stop 
317-320dup D107fsX108 N-terminal Stop 
 915-938dup R306-K313dup In-frame duplication in bZip 
312-313insCAGCTTC G104fsX109 N-terminal Stop 
 950-951insTCT L317-T318insL In-frame insertion in bZip 
68del P23fsX159 N-terminal Stop 
 936-938dup K313dup In-frame duplication in bZip 
258-259delinsAT Q87X N-terminal Stop 
 915-938dup R306-K313dup In-frame duplication in bZip 
68-78del P23fsX103 N-terminal Stop 
 893-928dup K298-E309dup In-frame duplication in bZip 
270del K90fsX159 N-terminal Stop 
 976-977insCGCTGGGAA K326TinsLGK In-frame insertion in bZip 
68del P23fsX159 N-terminal Stop 
 921-938dup V308-K313dup In-frame duplication in bZip 
123-124insGC G54fsX160 N-terminal Stop 
 914-916dup Q105dup In-frame duplication in bZip 
10 68-69insC P23fsX107 N-terminal Stop 
 893-928dup K298-E309dup In-frame duplication in bZip 
11 258-259delinsAT Q87X N-terminal Stop 
 936-938dup K313dup In-frame duplication in bZip 
12 59-60dup S60fsX160 N-terminal Stop 
 934-936dup Q312dup In-frame duplication in bZip 
13 262-263insTTGGCAC Q88fsX109 N-terminal Stop 
 937-942dup K313-V314dup In-frame duplication in bZip 
14 247-250dup H84fsX108 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
15 196del A66fsX159 N-terminal Stop 
 950-951ins24bp L317-T318ins8aa In-frame insertion in bZip 
16 177-186del E59fsX156 N-terminal Stop 
 932-949del Q311-E316del In-frame deletion in bZip 
17 68del P23fsX159 N-terminal Stop 
 944-945insGCA L315-E316insQ In-frame insertion in bZip 
18 201dup I68fsX107 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
19 162-172del G54fsX103 N-terminal Stop 
 938-940dup K313-V314insE In-frame insertion in bZip 
20 246del F82fsX159 N-terminal Stop 
 956-957insCGG S319-D320insG In-frame insertion in bZip 
21 151del P51fsX159 N-terminal Stop 
 921-926del N307-V308delinsK In-frame deletion in bZip 
22 147del P49fsX159 N-terminal Stop 
 937-939del K313del In-frame deletion in bZip 
23 276-292del K92fsX101 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
24 258-259delinsAT Q87X N-terminal Stop 
 897-920dup R300-N307dup In-frame duplication in bZip 
25 177-186del E49fsX156 N-terminal Stop 
 931-933dup Q311dup In-frame duplication in bZip 
26 246del F82fsX159 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
27 247dup Q83fsX107 N-terminal Stop 
 970-975dup L324-R325dup In-frame duplication in bZip 
28 246-247insGT Q83fsX160 N-terminal Stop 
 1013-1072dup T337-N356dup In-frame duplication in bZip 
29 247dup Q83fsX107 N-terminal Stop 
 970-975dup L324-R325dup In-frame duplication in bZip 
30 258-259delinsAT Q87X N-terminal Stop 
 931-933dup Q311dup In-frame duplication in bZip 
31 319-320insCTTG A107fsX170 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
32 281del A94fsX159 N-terminal Stop 
 929-937dup T310-Q312dup In-frame duplication in bZip 
33    
 931-939dup Q311-K313dup In-frame duplication in bZip 
34    
 937-939dup K313dup In-frame duplication in bZip 
35    
 936-938dup K313dup In-frame duplication in bZip 
36    
 915-938dup R306-K313dup In-frame duplication in bZip 
37    
 926-927insTGA E309DinsE In-frame insertion in bZip 
38    
 931-933dup Q311dup In-frame duplication in bZip 
Pt no.BP changeAA changePredicted effect
322-323insT Y108fsX169 N-terminal Stop 
317-320dup D107fsX108 N-terminal Stop 
 915-938dup R306-K313dup In-frame duplication in bZip 
312-313insCAGCTTC G104fsX109 N-terminal Stop 
 950-951insTCT L317-T318insL In-frame insertion in bZip 
68del P23fsX159 N-terminal Stop 
 936-938dup K313dup In-frame duplication in bZip 
258-259delinsAT Q87X N-terminal Stop 
 915-938dup R306-K313dup In-frame duplication in bZip 
68-78del P23fsX103 N-terminal Stop 
 893-928dup K298-E309dup In-frame duplication in bZip 
270del K90fsX159 N-terminal Stop 
 976-977insCGCTGGGAA K326TinsLGK In-frame insertion in bZip 
68del P23fsX159 N-terminal Stop 
 921-938dup V308-K313dup In-frame duplication in bZip 
123-124insGC G54fsX160 N-terminal Stop 
 914-916dup Q105dup In-frame duplication in bZip 
10 68-69insC P23fsX107 N-terminal Stop 
 893-928dup K298-E309dup In-frame duplication in bZip 
11 258-259delinsAT Q87X N-terminal Stop 
 936-938dup K313dup In-frame duplication in bZip 
12 59-60dup S60fsX160 N-terminal Stop 
 934-936dup Q312dup In-frame duplication in bZip 
13 262-263insTTGGCAC Q88fsX109 N-terminal Stop 
 937-942dup K313-V314dup In-frame duplication in bZip 
14 247-250dup H84fsX108 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
15 196del A66fsX159 N-terminal Stop 
 950-951ins24bp L317-T318ins8aa In-frame insertion in bZip 
16 177-186del E59fsX156 N-terminal Stop 
 932-949del Q311-E316del In-frame deletion in bZip 
17 68del P23fsX159 N-terminal Stop 
 944-945insGCA L315-E316insQ In-frame insertion in bZip 
18 201dup I68fsX107 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
19 162-172del G54fsX103 N-terminal Stop 
 938-940dup K313-V314insE In-frame insertion in bZip 
20 246del F82fsX159 N-terminal Stop 
 956-957insCGG S319-D320insG In-frame insertion in bZip 
21 151del P51fsX159 N-terminal Stop 
 921-926del N307-V308delinsK In-frame deletion in bZip 
22 147del P49fsX159 N-terminal Stop 
 937-939del K313del In-frame deletion in bZip 
23 276-292del K92fsX101 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
24 258-259delinsAT Q87X N-terminal Stop 
 897-920dup R300-N307dup In-frame duplication in bZip 
25 177-186del E49fsX156 N-terminal Stop 
 931-933dup Q311dup In-frame duplication in bZip 
26 246del F82fsX159 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
27 247dup Q83fsX107 N-terminal Stop 
 970-975dup L324-R325dup In-frame duplication in bZip 
28 246-247insGT Q83fsX160 N-terminal Stop 
 1013-1072dup T337-N356dup In-frame duplication in bZip 
29 247dup Q83fsX107 N-terminal Stop 
 970-975dup L324-R325dup In-frame duplication in bZip 
30 258-259delinsAT Q87X N-terminal Stop 
 931-933dup Q311dup In-frame duplication in bZip 
31 319-320insCTTG A107fsX170 N-terminal Stop 
 937-939dup K313dup In-frame duplication in bZip 
32 281del A94fsX159 N-terminal Stop 
 929-937dup T310-Q312dup In-frame duplication in bZip 
33    
 931-939dup Q311-K313dup In-frame duplication in bZip 
34    
 937-939dup K313dup In-frame duplication in bZip 
35    
 936-938dup K313dup In-frame duplication in bZip 
36    
 915-938dup R306-K313dup In-frame duplication in bZip 
37    
 926-927insTGA E309DinsE In-frame insertion in bZip 
38    
 931-933dup Q311dup In-frame duplication in bZip 
Close Modal

or Create an Account

Close Modal
Close Modal