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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95786: Variant p.Glu373Ala

Antiviral innate immune response receptor RIG-I
Gene: RIGI
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Variant information Variant position: help 373 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 Glutamate (E) to Alanine (A) at position 373 (E373A, p.Glu373Ala). 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 medium size and acidic (E) to small size and hydrophobic (A) 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
Variant description: help In SGMRT2; results in constitutive activation and enhanced interferon-mediated signaling. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 373 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 925 The length of the canonical sequence.
Location on the sequence: help NNLKKGTIPSLSIFTLMIFD E CHNTSKQHPYNMIMFNYLDQ 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                         NNLKKGTIPSLSIFTLMIFDECHNTSKQHPYNMIMFNYLDQ

Mouse                         NNLNNGAIPSLSVFTLMIFDECHNTSKNHPYNQIMFRYLDH

Pig                           NCLTNGTIPSLSVFTLMIFDECHNTSKQHPYNVIMFSYLDR
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 – 925 Antiviral innate immune response receptor RIG-I
Domain 251 – 430 Helicase ATP-binding
Region 218 – 925 Interaction with ZC3HAV1
Motif 372 – 375 DECH box
Mutagenesis 372 – 375 DECH -> AACA. Loss of dsRNA-induced ATPase activity. No effect on ds-RNA binding. Changed RIG-I signaling pathway.



Literature citations
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
Jang M.A.; Kim E.K.; Now H.; Nguyen N.T.; Kim W.J.; Yoo J.Y.; Lee J.; Jeong Y.M.; Kim C.H.; Kim O.H.; Sohn S.; Nam S.H.; Hong Y.; Lee Y.S.; Chang S.A.; Jang S.Y.; Kim J.W.; Lee M.S.; Lim S.Y.; Sung K.S.; Park K.T.; Kim B.J.; Lee J.H.; Kim D.K.; Kee C.; Ki C.S.;
Am. J. Hum. Genet. 96:266-274(2015)
Cited for: INVOLVEMENT IN SGMRT2; VARIANTS SGMRT2 PHE-268 AND ALA-373; CHARACTERIZATION OF VARIANTS SGMRT2 PHE-268 AND ALA-373;
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.