Variant position: 701 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 750 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human YSRPKEAPEPMELDGPKGTG YIKTELISVSEVH-----------------PSRLQTT------------D
Mouse YSRPKEAPEPMELDDPKRTG YIKTELISVSEVH--------
Pig YSRPKEAPEPMELDGPKGTG YIKTELISVSEVH--------
Caenorhabditis elegans ESEERHRVG----GGDSPTG YIQSEIVMVAKTNGNFRRMSN
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 750 Signal transducer and activator of transcription 1-alpha/beta
701 – 701 Phosphotyrosine; by JAK1, JAK2 or TYK2
705 – 705 ADP-ribosyl glutamic acid; by PARP14
708 – 708 Phosphoserine; by IKKE
703 – 703 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
703 – 703 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
701 – 701 Y -> E. Not phosphorylated at S-708 upon IFNB induction.
701 – 701 Y -> F. No effect on basal sumoylation. Enhances sumoylation in the presence of MAPK stimulation. Phosphorylated at S-708 upon IFNB induction.
703 – 703 K -> R. Abolishes sumoylation by SUMO1. Increased IFN-gamma-mediated transactivation.
705 – 705 E -> Q. Loss of ADP-ribosylation and increased Tyr-701 phosphorylation; when associated with Q-657.
708 – 708 S -> A. Phosphorylated at Y-701 upon IFNB induction.
708 – 708 S -> D. Not phosphorylated at Y-701 upon IFNB induction.
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
Soltesz B.; Toth B.; Shabashova N.; Bondarenko A.; Okada S.; Cypowyj S.; Abhyankar A.; Csorba G.; Tasko S.; Sarkadi A.K.; Mehes L.; Rozsival P.; Neumann D.; Chernyshova L.; Tulassay Z.; Puel A.; Casanova J.L.; Sediva A.; Litzman J.; Marodi L.;
J. Med. Genet. 50:567-578(2013)
Cited for: VARIANTS IMD31C GLY-165; LYS-179; GLN-274; TRP-274; ARG-285 AND MET-385; CHARACTERIZATION OF VARIANTS IMD31C LYS-179; GLN-274; TRP-274; ARG-285 AND MET-385; CHARACTERIZATION OF VARIANT IMD31B CYS-701;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.