TABLE 1.
Jak2 Mutations that occur in various hematalogical disorders
| EXON LOCATION (Amino acids encoded) | MUTATION | DISEASE | REFERENCE |
|---|---|---|---|
| Kinase domain (849-1123) | |||
| Exon 20 (858–920) | R867Q | Ch-B-ALL | [110] |
| D873N | Ch-B-ALL | [110] | |
| T875N | AMKL cell line | [71] | |
| Exon 21 (921 – 962) | P933R | Ch-B-ALL | [110] |
| Pseudokinase domain (545-806) | |||
| Exon 16 (665 to 710) | I682F | [110] | |
| R683G | DS-B-ALL | [110,111, 112, 113] | |
| R683S | DS-B-ALL | [110,111, 112, 113] | |
| RQIns683 | [114] | ||
| I682-D686 (IREED) del | DS-B-ALL | [51] | |
| Exon 15 (623 to 664) | L624P | MPNs | [115] |
| E627E | MPNs | [51] | |
| I645V | MPNs | [51] | |
| Exon 14 (593–622) | H606Q | MPNs | [116] |
| K607N | AML | [51] | |
| H608Y | MPNs | [117] | |
| L611S | Ch-B-ALL | [20–24, 116, 118, 119–122] | |
| V617F | MPNs, CMML, JMML, RARS, AML, MDS | [51] | |
| V617I | MPNs | [115, 123] | |
| D620E+V617F | MPNs | [124] | |
| C616Y+V617F | MPNs | [51, 125] | |
| C618R+V617F | MPNs | [126] | |
| Exon 14 del | MPNs | [51] | |
| Exon 13 (548–592) | F557L | MPNs | [51] |
| V567A | MPNs | [51] | |
| L579F | MPNs | [51] | |
| H587N | MPNs | [51] | |
| S591L | MPNs | [51] | |
| R564L, R564Q | MPNs | [51] | |
| G571S, G571R | MPNs | [51] | |
| SH2-JH2 Linker (501-544) | |||
| Exon 12 (501–547) | T514M | MPNs | [51] |
| N533Y | MPNs | [51] | |
| F537I | MPNs | [127] | |
| K539L | MPNs | [47] | |
| L545V | MPNs | [51] | |
| F547V | MPNs | [128] | |
| F547L | MPNs | [51] | |
| H538QK539L | MPNs | [47, 128, 129] | |
| H538-K539del | MPNs | [51, 129] | |
| E543del | MPNs | [128] | |
| N542-E543del | MPNs | [47, 128, 129] | |
| E543-D544del | MPNs | [128, 129, 130] | |
| D544-L545del | MPNs | [129] | |
| F537-K539delinsL | MPNs | [47, 128, 129] | |
| H538-K539delinsL | MPNs | [128, 131] | |
| R541-E543delinsK | MPNs | [131, 132] | |
| F537-I546dup10+F547L | MPNs | [49, 128] | |
| 547insLI540-F547 | MPNs | [128] | |
| I540-E543delinsMK | MPNs | [128, 132] | |
| H538DK539LI540S | MPNs | [128, 129] | |
| I540-N542delinsS | MPNs | [128] | |
| F537-F547dup | MPNs | [128] | |
| V536-F547dup | MPNs | [128, 129] | |
| V536-I546dup11 | MPNs | [49, 128] | |
| I540-D544delinsMK | MPNs | [51] | |
| N542-D544delinsN | MPNs | [51] | |
| FERM domain (37-380) | |||
| Exon 8 (313–352) | R340Q | MPNs | [103] |
a
Abbreviations used: Ch-B-ALL - childhood B-cell precursor acute lymphoblastic leukemia, DS- down syndrome, AML - acute myeloid leukemia, AMKL - acute megakaryoblastic leukemia, CMML - chronic myelomonocytic leukemia, JMML - juvenile myelomonocytic leukemia, MPNs - myeloproliferative neoplasms, MDS - myelodysplastic syndrome, RARS - refractory anemia with ringed sideroblasts.