Table 2.

Immunohistochemical prediction of exon-12 NPM mutations in 200 adult NPMc+ AML patients


Mutation

Nucleotide sequence

Protein sequence

Frequency of mutations, %

IH
WT*  gaccaagaggctattcaagatctct   g   gcag   t   ggaggaagtctctttaagaaaatag   286-DLWQWRKSL    Nucl  
A   gaccaagaggctattcaagatctct   gTCTG   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCLAVEEVSLRK   80.5   Cyt  
B   gaccaagaggctattcaagatctct   gCATG   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCMAVEEVSLRK   7.5   Cyt  
C   gaccaagaggctattcaagatctct   gCGTG   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCVAVEEVSLRK   < 1   Cyt  
D   gaccaagaggctattcaagatctct   gCCTG   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCLAVEEVSLRK   5.5   Cyt  
E   gaccaagaggctattcaagatctct   g   gcag   tCTCTTGCCC   aagtctctttaagaaaatag   286-DLWQSLAQVSLRK   < 1   Cyt  
F   gaccaagaggctattcaagatctct   g   gcag   tCCCTGGAGA   aagtctctttaagaaaatag   286-DLWQSLEKVSLRK   < 1   Cyt  
J   gaccaagaggctattcaagatctct   g   gcag   tCTCTTTCTA   aagtctctttaagaaaatag   286-DLWQSLSKVSLRK   < 1   Cyt  
L   gaccaagaggctattcaagatctctCCCGg    gcag   t   aagtctctttaagaaaatag   286-DLSRAVEEVSLRK   < 1   Cyt  
K   gaccaagaggctattcaagatctct   g   gcag   tCCCTTTCCA   aagtctctttaagaaaatag   286-DLWQSLSKVSLRK   < 1   Cyt  
M   gaccaagaggctattcaagatctct   gTAGC   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCTAVEEVSLRK   < 1   Cyt  
N   gaccaagaggctattcaagatctct   gCCAC   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCHAVEEVSLRK   < 1   Cyt  
O   gaccaagaggctattcaagatctct   g   gcagCGTTTCC    aggaagtctctttaagaaaatag   286-DLWQRFQEVSLRK   < 1   Cyt  
P   gaccaagaggctattcaagatctct   gTACCTTCC    t   ggaggaagtctctttaagaaaatag   286-DLCTFLEEVSLRK   < 1   Cyt  
Q
 
gaccaagaggctattcaagatctct
 
g
 
gcagAGGA
 
t
 
ggaggaagtctctttaagaaaatag
 
286-DLWQRMEEVSLRK
 
< 1
 
Cyt
 

Mutation

Nucleotide sequence

Protein sequence

Frequency of mutations, %

IH
WT*  gaccaagaggctattcaagatctct   g   gcag   t   ggaggaagtctctttaagaaaatag   286-DLWQWRKSL    Nucl  
A   gaccaagaggctattcaagatctct   gTCTG   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCLAVEEVSLRK   80.5   Cyt  
B   gaccaagaggctattcaagatctct   gCATG   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCMAVEEVSLRK   7.5   Cyt  
C   gaccaagaggctattcaagatctct   gCGTG   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCVAVEEVSLRK   < 1   Cyt  
D   gaccaagaggctattcaagatctct   gCCTG   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCLAVEEVSLRK   5.5   Cyt  
E   gaccaagaggctattcaagatctct   g   gcag   tCTCTTGCCC   aagtctctttaagaaaatag   286-DLWQSLAQVSLRK   < 1   Cyt  
F   gaccaagaggctattcaagatctct   g   gcag   tCCCTGGAGA   aagtctctttaagaaaatag   286-DLWQSLEKVSLRK   < 1   Cyt  
J   gaccaagaggctattcaagatctct   g   gcag   tCTCTTTCTA   aagtctctttaagaaaatag   286-DLWQSLSKVSLRK   < 1   Cyt  
L   gaccaagaggctattcaagatctctCCCGg    gcag   t   aagtctctttaagaaaatag   286-DLSRAVEEVSLRK   < 1   Cyt  
K   gaccaagaggctattcaagatctct   g   gcag   tCCCTTTCCA   aagtctctttaagaaaatag   286-DLWQSLSKVSLRK   < 1   Cyt  
M   gaccaagaggctattcaagatctct   gTAGC   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCTAVEEVSLRK   < 1   Cyt  
N   gaccaagaggctattcaagatctct   gCCAC   gcag   t   ggaggaagtctctttaagaaaatag   286-DLCHAVEEVSLRK   < 1   Cyt  
O   gaccaagaggctattcaagatctct   g   gcagCGTTTCC    aggaagtctctttaagaaaatag   286-DLWQRFQEVSLRK   < 1   Cyt  
P   gaccaagaggctattcaagatctct   gTACCTTCC    t   ggaggaagtctctttaagaaaatag   286-DLCTFLEEVSLRK   < 1   Cyt  
Q
 
gaccaagaggctattcaagatctct
 
g
 
gcagAGGA
 
t
 
ggaggaagtctctttaagaaaatag
 
286-DLWQRMEEVSLRK
 
< 1
 
Cyt
 

Mutations A to F correspond to those previously described by Falini et al; mutation Q corresponds to mutation Mm described by Schnittger et al. Lowercase letters in nucleotide sequences indicate wild-type sequence residues; capital letters, mutated nucleotides. Underlined text indicates leucine-rich NES motif; italics, tryptophan (W) residues.

IH indicates immunohistochemistry; WT, wild type; Nucl, nuclear; Cyt, cytoplasmic.

*

NM_002520.

or Create an Account

Close Modal
Close Modal