NPM1 mutation variants in 401 AML patients with normal karyotype
Type . | n . | Wt . | Insertion . | Wt . | Insertion . | Wt . | Protein DLWQWRKSL (Wt) . |
|---|---|---|---|---|---|---|---|
| A* | 166 | gatctctg | tctg | gcagt | — | ggaggaagtctcttt | DLCLAVEEVSLRK |
| B* | 13 | gatctctg | catg | gcagt | — | ggaggaagtctcttt | DLCMAVEEVSLRK |
| C* | — | gatctctg | cgtg | gcagt | — | ggaggaagtctcttt | DLCVAVEEVSLRK |
| D* | 21 | gatctctg | cctg | gcagt | — | ggaggaagtctcttt | DLCLAVEEVSLRK |
| E* | — | gatctctg | — | gcagt | ctcttgccc | ggaggaagtctcttt | DLWQSLAQVSLRK |
| F* | — | gatctctg | — | gcagt | ccctggaga | ggaggaagtctcttt | DLWQSLEKVSLRK |
| GM | 1 | gatctctg | cagg | gcagt | — | ggaggaagtctcttt | DLCRAVEEVSLRK |
| KM | 3 | gatctctg | ccgg | gcagt | — | gaggaagtctcttt | DLCRAVEEVSLRK |
| LM | 1 | gatctctg | ccgcgg | agt | — | ggaggaagtctcttt | DLCRGVEEVSLRK |
| MM | 1 | gatctctg | — | gcag | agga | tggaggaagtcttcttt | DLWQRMEEVSLRK |
| NM | 2 | gatctctg | ccag | gcagt | — | ggaggaagtctcttt | DLCQAVEEVSLRK |
| OM | 1 | gatctctg | tttg | gcagt | — | ggaggaagtctcttt | DLCLAVEEVSLRK |
| PM | 2 | gatctctg | cttg | gcagt | — | ggaggaagtctcttt | DLCLAVEEVSLRK |
| QM | 1 | gatctctg | tcgg | gcagt | — | ggaggaagtctcttt | DLCRAVEEVSLRK |
Type . | n . | Wt . | Insertion . | Wt . | Insertion . | Wt . | Protein DLWQWRKSL (Wt) . |
|---|---|---|---|---|---|---|---|
| A* | 166 | gatctctg | tctg | gcagt | — | ggaggaagtctcttt | DLCLAVEEVSLRK |
| B* | 13 | gatctctg | catg | gcagt | — | ggaggaagtctcttt | DLCMAVEEVSLRK |
| C* | — | gatctctg | cgtg | gcagt | — | ggaggaagtctcttt | DLCVAVEEVSLRK |
| D* | 21 | gatctctg | cctg | gcagt | — | ggaggaagtctcttt | DLCLAVEEVSLRK |
| E* | — | gatctctg | — | gcagt | ctcttgccc | ggaggaagtctcttt | DLWQSLAQVSLRK |
| F* | — | gatctctg | — | gcagt | ccctggaga | ggaggaagtctcttt | DLWQSLEKVSLRK |
| GM | 1 | gatctctg | cagg | gcagt | — | ggaggaagtctcttt | DLCRAVEEVSLRK |
| KM | 3 | gatctctg | ccgg | gcagt | — | gaggaagtctcttt | DLCRAVEEVSLRK |
| LM | 1 | gatctctg | ccgcgg | agt | — | ggaggaagtctcttt | DLCRGVEEVSLRK |
| MM | 1 | gatctctg | — | gcag | agga | tggaggaagtcttcttt | DLWQRMEEVSLRK |
| NM | 2 | gatctctg | ccag | gcagt | — | ggaggaagtctcttt | DLCQAVEEVSLRK |
| OM | 1 | gatctctg | tttg | gcagt | — | ggaggaagtctcttt | DLCLAVEEVSLRK |
| PM | 2 | gatctctg | cttg | gcagt | — | ggaggaagtctcttt | DLCLAVEEVSLRK |
| QM | 1 | gatctctg | tcgg | gcagt | — | ggaggaagtctcttt | DLCRAVEEVSLRK |
— indicates no. cases detected.
According to Falini et al20 ; mutations H, I, and J are not listed since they have been recently detected in AML pediatric patients.26 Wt indicates wild type; tryptophans 288 and 290 are expressed as underlined letters; NES motif, italics.