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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P62879: Variant p.Arg52Leu

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2
Gene: GNB2
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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 Arginine (R) to Leucine (L) at position 52 (R52L, p.Arg52Leu). 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 hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 SSS4; leads to a sustained activation of cardiac G protein-coupled inwardly-rectifying potassium (GIRK) channels, which is likely to hyperpolarize the myocellular membrane potential and reduce their spontaneous activity; does not affect protein levels, subcellular location, nor interaction with GNAI2 and GNG2. 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 340 The length of the canonical sequence.
Location on the sequence: help QITAGLDPVGRIQMRTRRTL R GHLAKIYAMHWGTDSRLLVS 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                         QITAGLDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVS

Mouse                         QITAGLDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVS

Rat                           QITAGLDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVS

Bovine                        QITAGLDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVS

Caenorhabditis elegans        QAAERLDVMGALGVKQRRILKGHVGKVLCMDWSLDKRHIVS

Drosophila                    DKCGDMGDVPKIRFSSKKILKGHINKVNSVHFAGDSRHCVT
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 – 340 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2
Alternative sequence 1 – 100 Missing. In isoform 2.



Literature citations
A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.
Stallmeyer B.; Kuss J.; Kotthoff S.; Zumhagen S.; Vowinkel K.; Rinne S.; Matschke L.A.; Friedrich C.; Schulze-Bahr E.; Rust S.; Seebohm G.; Decher N.; Schulze-Bahr E.;
Circ. Res. 120:e33-e44(2017)
Cited for: INVOLVEMENT IN SSS4; VARIANT SSS4 LEU-52; CHARACTERIZATION OF VARIANT SSS4 LEU-52; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH GNAI2 AND GNG2;
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.