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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09471: Variant p.Gln52Arg

Guanine nucleotide-binding protein G(o) subunit alpha
Gene: GNAO1
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Variant information Variant position: help 52 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 Glutamine (Q) to Arginine (R) at position 52 (Q52R, p.Gln52Arg). 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 polar (Q) to large size and basic (R) 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 DEE17; loss of GTP binding; decreased interaction with RGS19; decreased interaction with heterodimers formed by GNB1 and GNG3; strongly decreased localization to cell membrane. Any additional useful information about the variant.


Sequence information Variant position: help 52 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 354 The length of the canonical sequence.
Location on the sequence: help KDVKLLLLGAGESGKSTIVK Q MKIIHEDGFSGEDVKQYKPV 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                         KDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPV

Mouse                         KDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPV

Rat                           KDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPV

Bovine                        KDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPV

Xenopus laevis                KDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPV

Caenorhabditis elegans        KDIKLLLLGAGESGKSTIVKQMKIIHESGFTAEDYKQYKPV

Drosophila                    KDIKLLLLGAGESGKSTIVKQMKIIHESGFTAEDFKQYRPV
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 – 354 Guanine nucleotide-binding protein G(o) subunit alpha
Domain 32 – 354 G-alpha
Binding site 43 – 43
Binding site 46 – 46
Binding site 47 – 47
Binding site 47 – 47
Binding site 48 – 48



Literature citations
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.
Solis G.P.; Kozhanova T.V.; Koval A.; Zhilina S.S.; Mescheryakova T.I.; Abramov A.A.; Ishmuratov E.V.; Bolshakova E.S.; Osipova K.V.; Ayvazyan S.O.; Lebon S.; Kanivets I.V.; Pyankov D.V.; Troccaz S.; Silachev D.N.; Zavadenko N.N.; Prityko A.G.; Katanaev V.L.;
Cells 10:0-0(2021)
Cited for: VARIANT DEE17 ARG-52; CHARACTERIZATION OF VARIANT DEE17 ARG-52; CHARACTERIZATION OF VARIANT PRO-52; INTERACTION WITH RGS19; INTERACTION WITH GNB1 AND GNG3; SUBCELLULAR LOCATION;
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.