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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P28472: Variant p.Gly32Arg

Gamma-aminobutyric acid receptor subunit beta-3
Gene: GABRB3
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Variant information Variant position: help 32 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 Glycine (G) to Arginine (R) at position 32 (G32R, p.Gly32Arg). 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 glycine (G) to large size and basic (R) 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 ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 473 The length of the canonical sequence.
Location on the sequence: help IFSAPVLVAVVCCAQSVNDP G NMSFVKETVDKLLKGYDIRL 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                         IFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRL

Mouse                         IFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRL

Rat                           IFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRL

Chicken                       IFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRL

Drosophila                    LLGAQ--LQLIRCIRKDVLAGRLENVTQTISNILQGYDIRL
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 26 – 473 Gamma-aminobutyric acid receptor subunit beta-3
Topological domain 26 – 246 Extracellular
Glycosylation 33 – 33 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 85 Missing. In isoform 4.
Alternative sequence 3 – 80 GLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNM -> ATYQTEE. In isoform 3.



Literature citations
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
Tanaka M.; Olsen R.W.; Medina M.T.; Schwartz E.; Alonso M.E.; Duron R.M.; Castro-Ortega R.; Martinez-Juarez I.E.; Pascual-Castroviejo I.; Machado-Salas J.; Silva R.; Bailey J.N.; Bai D.; Ochoa A.; Jara-Prado A.; Pineda G.; Macdonald R.L.; Delgado-Escueta A.V.;
Am. J. Hum. Genet. 82:1249-1261(2008)
Cited for: VARIANT ECA5 ARG-32; CHARACTERIZATION OF VARIANT ECA5 ARG-32; VARIANTS ECA5 SER-11 AND PHE-15 (ISOFORM 2); CHARACTERIZATION OF VARIANTS ECA5 SER-11 AND PHE-15 (ISOFORM 2); FUNCTION; SUBCELLULAR LOCATION; SUBUNIT; GABRB3 mutation, G32R, associated with childhood absence epilepsy alters alpha1beta3gamma2L gamma-aminobutyric acid type A (GABAA) receptor expression and channel gating.
Gurba K.N.; Hernandez C.C.; Hu N.; Macdonald R.L.;
J. Biol. Chem. 287:12083-12097(2012)
Cited for: CHARACTERIZATION OF VARIANT ECA5 ARG-32; FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; SUBUNIT; INTERACTION WITH GBRA1 AND GBRG2;
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.