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 al3 ; mutation Q corresponds to mutation Mm described by Schnittger et al.6 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.