Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations

Table 1 Summary of predicted effects of JAK2 mutations.

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.

ISSN: 1472-6807