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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42224: Variant p.Lys298Asn

Signal transducer and activator of transcription 1-alpha/beta
Gene: STAT1
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Variant information Variant position: help 298 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Lysine (K) to Asparagine (N) at position 298 (K298N, p.Lys298Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In IMD31C; gain of function; increases basal STAT1 phosphorylation levels which are 10-20 fold higher than controls after IFNG stimulation. Any additional useful information about the variant.


Sequence information Variant position: help 298 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 750 The length of the canonical sequence.
Location on the sequence: help KKLEELEQKYTYEHDPITKN K QVLWDRTFSLFQQLIQSSFV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KKLEELEQKYTYEHDPITKNK----QVLWDRTFSLFQQLIQSSFV

Mouse                         KKLEELEQKFTYEPDPITKNK----QVLSDRTFLLFQQLIQ

Pig                           KKLEELEQKYTYEHDPITKNK----QALWDRTFSLFQQLIQ

Caenorhabditis elegans        CWMLDLLRRAPQLNDGLAQATIGKLTAITEQLNKLLFMLVS
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 750 Signal transducer and activator of transcription 1-alpha/beta
Coiled coil 136 – 317
Modified residue 296 – 296 N6-methyllysine
Mutagenesis 296 – 296 K -> A. No effect on IFN-alpha-induced STAT1 phosphorylation and nuclear translocation.
Helix 293 – 315



Literature citations
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;
Disclaimer: 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.