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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86WV6: Variant p.Arg293Gln

Stimulator of interferon genes protein
Gene: STING1
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Variant information Variant position: help 293 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Arginine (R) to Glutamine (Q) at position 293 (R293Q, p.Arg293Gln). 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 (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 293 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 379 The length of the canonical sequence.
Location on the sequence: help QYSQAGFSREDRLEQAKLFC R TLEDILADAPESQNNCRLIA 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                         QYSQAGFSREDRLEQAKL--FCRTLEDILADAPESQNNCRLIA

Mouse                         QDAKAGFSREDRLEQAKL--FCRTLEEILEDVPESRNNCRL

Rat                           QDGKAGFSREDRLEQAKL--FCRTLEEILADVPESRNHCRL

Pig                           QDGRAGFSREDRLEQAKL--FCRTLEDILADAPEAQNNCRL

Bovine                        QDGRAGFSREDRLEQAKL--FCRTLEDILANAPESQNNCRL

Chicken                       QDDCAAFSREQRLEQARL--FYRSLRDILGSSKECAGLYRL

Xenopus tropicalis            DIPSAAFSADDRLQQTKL--FYRTLKDILENAHELQNTYRL

Zebrafish                     QESSAGFGERERKQQVLL--FYRTLSQILDNSLECRNRYRL

Drosophila                    YSNLSGTWQMQELKREIWIKFYKHLKELITTWPETRDLVEL

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 1 – 379 Stimulator of interferon genes protein
Topological domain 135 – 379 Cytoplasmic
Region 153 – 340 Cyclic dinucleotide-binding domain (CBD)
Mutagenesis 273 – 273 Q -> A. Abolished translocation from the endoplasmic reticulum in response to cGAMP-binding. Reduced phosphorylation by TBK1.
Mutagenesis 277 – 277 A -> Q. Abolished translocation from the endoplasmic reticulum in response to cGAMP-binding. Reduced phosphorylation by TBK1.
Helix 281 – 301



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.