. Author manuscript; available in PMC: 2017 Oct 1.

Published in final edited form as: J Allergy Clin Immunol. 2016 May 24;138(4):1222–1224.e2. doi: 10.1016/j.jaci.2016.05.007

Table 1.

Gain of function and dominant negative mutations occurring in at the same positions in STAT3 protein with initial citations. The PolyPhen-2 scores and their predictions indicate the effects of single residue changes in the structure and function of STAT3.

Mutation^*	Disease	PolyPhen-2
Mutation^*	Disease	Score	Prediction
S614G^E1	HIES	0.994	Probably damaging
S614R^E2	T-LGL	1.000	Probably damaging

G617E^E3	HIES	1.000	Probably damaging
G617V^E1	HIES	0.998
G617R ^E4	DLBCL	1.000

G618D ^E5	HIES	0.892	Possibly damaging
G618R ^E2	NK-LGL	0.983	Possibly damaging

N647D ^E6	HIES	0.037	Benign
N647I ^E7	LGLL	0.395	Benign

Y657C ^E6	HIES	1.000	Probably damaging
Y657S ^E8	HIES	0.999
Y657N ^E9	HIES	0.999
Y657ins ^E10	γδ T lymphoma
Y657dup ^E11	T-LGL
Y657_M660dup ^E12	IHCA, CHC1021T
Y657_K658insY ^E7	LGLL

K658M ^E2	T-LGL	0.994	Probably damaging
K658N ^E7	LGLL/autoimmunity	0.990	Probably damaging
K658Y ^E12	IHCA; CHC379T	0.956	Possibly damaging
K658E ^E13	HIES	0.926	Possibly damaging

HIES-Hyper-IgE syndrome, DLBCL-Diffuse Large B cell Lymphoma, LGLL- Large granular lymphocytic leukemia, T-LGL- T-cell large granular lymphocytic leukemia, NK-LGL- Natural killer cell large granular lymphocytic leukemia; IHCA- Inflammatory hepatocellular adenomas.

see online repository (Supplementary Text) for the references.