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 |