Variant position: 179 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 EIKSLEDLQDEYDFKCKTLQ NREHETNGVAKSDQKQEQLLL
Mouse EIKTLEELQDEYDFKCKTSQ NREGEANGVAKSDQKQEQLLL
Pig EIKTLEDLQDEYDFKCKTLQ NREHDTNGVAKNDQKQEQMLL
Caenorhabditis elegans QMTELQKRA----------- ---------------------
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
136 – 317
175 – 175 N6-methyllysine
175 – 175 K -> A. No effect on IFN-alpha-induced STAT1 phosphorylation and nuclear translocation.
137 – 179
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.