Variant position: 201 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 EHETNGVAKSDQKQEQLLLK KMYLMLDNKRKEVVHKIIELL
Mouse EGEANGVAKSDQKQEQLLLH KMFLMLDNKRKEIIHKIRELL
Pig EHDTNGVAKNDQKQEQMLLQ KMYLMLDNKRKEVVHKIIELL
Caenorhabditis elegans -------------------A TLYEHLTQKRNDIVIKLNDGT
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
198 – 247
A novel form of human STAT1 deficiency impairing early but not late responses to interferons.
Kong X.F.; Ciancanelli M.; Al-Hajjar S.; Alsina L.; Zumwalt T.; Bustamante J.; Feinberg J.; Audry M.; Prando C.; Bryant V.; Kreins A.; Bogunovic D.; Halwani R.; Zhang X.X.; Abel L.; Chaussabel D.; Al-Muhsen S.; Casanova J.L.; Boisson-Dupuis S.;
Cited for: VARIANT IMD31B ASN-201; CHARACTERIZATION OF VARIANT IMD31B ASN-201;
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