Details

Autor(en) / Beteiligte

• Chandrasekaran, Prabha, PhD
• Zimmerman, Ofer, MD
• Paulson, Michelle, MD
• Sampaio, Elizabeth P., MD, PhD
• Freeman, Alexandra F., MD
• Sowerwine, Kathryn J., MD
• Hurt, Darell, PhD
• Alcántara-Montiel, Julio C., MD, PhD
• Hsu, Amy P., BA
• Holland, Steven M., MD

Titel

Distinct mutations at the same positions of STAT3 cause either loss or gain of function

Ist Teil von

• Journal of allergy and clinical immunology, 2016-10, Vol.138 (4), p.1222-1224.e2

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2016

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• [...]GOF and loss-of-function mutations in STAT3 are not so much a function of the region of STAT3 in which they occur as they are a function of their effect on local charge and DNA-binding affinity. Mutation[low *] Disease PolyPhen-2 Score Prediction S614GE1 HIES 0.994 Probably damaging S614RE2 T-LGL 1.000  G617EE3 HIES 1.000 Probably damaging G617VE1 HIES 0.998  G617RE4 DLBCL 1.000  G618DE5 HIES 0.892 Possibly damaging G618RE2 NK-LGL 0.983  N647DE6 HIES 0.037 Benign N647IE7 LGLL 0.395  Y657CE6 HIES 1.000 Probably damaging Y657SE8 HIES 0.999  Y657NE9 HIES 0.999  Y657insE10 γδ T lymphoma   Y657dupE11 T-LGL   Y657_M660dupE12 IHCA, CHC1021T   Y657_K658insYE7 LGLL   K658ME2 T-LGL 0.994 Probably damaging K658NE7 LGLL/autoimmunity 0.990  K658YE12 IHCA; CHC379T 0.956 Possibly damaging K658EE13 HIES 0.926  Table I GOF and dominant-negative mutations occurring at the same positions in the 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.DLBCL, Diffuse large B-cell lymphoma; IHCA, inflammatory hepatocellular adenomas; LGLL, large granular lymphocytic leukemia; T-LGL, T-cell large granular lymphocytic leukemia; NK-LGL, natural killer cell large granular lymphocytic leukemia.