Variant position: 298 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 KKLEELEQKYTYEHDPITKN K----QVLWDRTFSLFQQLIQSSFV
Mouse KKLEELEQKFTYEPDPITKN K----QVLSDRTFLLFQQLIQ
Pig KKLEELEQKYTYEHDPITKN K----QALWDRTFSLFQQLIQ
Caenorhabditis elegans CWMLDLLRRAPQLNDGLAQA TIGKLTAITEQLNKLLFMLVS
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.
293 – 316
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-gamma-mediated responses in chronic mucocutaneous candidiasis.
Martinez-Martinez L.; Martinez-Saavedra M.T.; Fuentes-Prior P.; Barnadas M.; Rubiales M.V.; Noda J.; Badell I.; Rodriguez-Gallego C.; Calle-Martin O.L.;
Mol. Immunol. 68:597-605(2015)
Cited for: VARIANT IMD31C ASN-298; CHARACTERIZATION OF VARIANT IMD31C ASN-298;
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