Skip to main content
. 2013 Aug 12;2(4):e25790. doi: 10.4161/jkst.25790

Table 1. Summary of mutations that alter STAT2 signaling and function.

Phenotype STAT2 mutation Domain References
Prolonged Y690 phosphorylation
S287A
CCD
34
Y631F
SH2
35
Reduced or no Y690 phosphorylation
S287D
CCD
34
R601L
SH2
6
P630L
SH2
36
Y690F
C-terminus of SH2 domain
28
R694N
C-terminus of SH2 domain
6
Reduced or no nuclear translocation
R374A + K375A
DBD
37
R409A + K415A
DBD
37
Reduced or no nuclear export
L737A + L741A
TAD
38
L740A + L741A
TAD
39
L745A
TAD
39
L751A
TAD
39
Reduced DNA-binding
V453I + V454I
DBD
40
Reduced transcriptional activity
K390R
DBD
41
Abolished STAT4 activation Y833F TAD 42