Variant position: 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 473 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human IFSAPVLVAVVCCAQSVNDP GNMSFVKETVDKLLKGYDIRL
Mouse IFSAPVLVAVVCCAQSVNDP GNMSFVKETVDKLLKGYDIRL
Rat IFSAPVLVAVVCCAQSVNDP GNMSFVKETVDKLLKGYDIRL
Chicken IFSAPVLVAVVCCAQSVNDP GNMSFVKETVDKLLKGYDIRL
Drosophila LLGAQL--QLIRCIRKDVLA GRLENVTQTISNILQGYDIRL
Sequence annotation in neighborhood: 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.
Type Positions Description
26 – 473 Gamma-aminobutyric acid receptor subunit beta-3
26 – 245 Extracellular
33 – 33 N-linked (GlcNAc...) asparagine
1 – 85 Missing. In isoform 4.
3 – 80 GLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNM -> ATYQTEE. In isoform 3.
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; SUBCELLULAR LOCATION; SUBUNIT;
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.