Table 1.
Mutation | Interactions | JH1/JH2 interface Openness | MPD implication[17,34,43,44] | Experimental evidence[41] | ||
I-1 | I-2 | I-3 | ||||
Wild-Type | O | O | O | O | no | benign |
K539L | XX | XX | X | XX | yes | |
R564L | X | XX | X | XX | yes | |
L579F | O | X | X | X | yes | |
H587N | X | X | X | X | yes | |
S591L | XX | XX | X | XX | yes | |
14-del | XX | XX | X | XX | yes | |
K603QN667K | O | O | O | O | no | |
H606Q | X | XX | X | XX | yes | |
V617C | O | O | O | O | benign | |
V617F | X | XX | X | XX | yes | deleterious |
V617I | XX | O | O | XX | deleterious | |
V617Y | O | X | O | X | ||
C618R | XX | XX | X | XX | yes | |
L624P | X | X | O | X | yes |
Summary of predicted effects of JAK2 mutations on I-1, I-2, and I-3 interactions and total effects on the JH1/JH2 interface; and the comparison with experimental/clinical evidence. "O" indicates benign; "X", mildly deleterious; "XX", severely deleterious. The "JH1/JH2 openness" is defined as severely deleterious when I-1 or I-2 is severely deleterious.