Variant position: 278 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 QLQNWFTIVAESLQQVRQQL KKLEELEQKYTYEHDPITKNK----
Mouse QLQTWFTIVAETLQQIRQQL KKLEELEQKFTYEPDPITKNK
Pig QLQNWFTIVAESLQQVRQQL KKLEELEQKYTYEHDPITKNK
Caenorhabditis elegans EIQIEFEFLADQNWQLNMFS CWMLDLLRRAPQLNDGLAQAT
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
296 – 296 N6-methyllysine
296 – 296 K -> A. No effect on IFN-alpha-induced STAT1 phosphorylation and nuclear translocation.
257 – 286
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
Yamazaki Y.; Yamada M.; Kawai T.; Morio T.; Onodera M.; Ueki M.; Watanabe N.; Takada H.; Takezaki S.; Chida N.; Kobayashi I.; Ariga T.;
J. Immunol. 193:4880-4887(2014)
Cited for: VARIANTS IMD31C GLU-278 AND ASP-384; CHARACTERIZATION OF VARIANTS IMD31C GLU-278; ASP-384 AND MET-385;
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