Sequence information
Variant position: 325 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 451 The length of the canonical sequence.
Location on the sequence:
PKVAYATAMDWFIAVCYAFV
F SALIEFATVNYFTKRGWAWD
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 PKVAYATAMDWFIAVCYAFVF SALIEFATVNYFTKRGWAWD
Mouse PKVAYATAMDWFIAVCYAFVF SALIEFATVNYFTKRGWAWD
Rat PKVAYATAMDWFIAVCYAFVF SALIEFATVNYFTKRGWAWD
Bovine PKVAYATAMDWFIAVCYAFVF SALIEFATVNYFTKRGWAWD
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
Chain
29 – 451
Gamma-aminobutyric acid receptor subunit alpha-2
Transmembrane
313 – 334
Helical
Literature citations
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Maljevic S.; Keren B.; Aung Y.H.; Forster I.C.; Mignot C.; Buratti J.; Lafitte A.; Freihuber C.; Rodan L.H.; Bergin A.; Hubert L.; Poirier K.; Munnich A.; Besmond C.; Hauser N.; Miller R.; McWalter K.; Nabbout R.; Heron D.; Leguern E.; Depienne C.; Petrou S.; Nava C.;
Brain 142:E15-E15(2019)
Cited for: FUNCTION; INVOLVEMENT IN DEE78; VARIANTS DEE78 THR-263; ALA-284; VAL-291 AND LEU-325; CHARACTERIZATION OF VARIANTS DEE78 THR-263; ALA-284; VAL-291 AND LEU-325;
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.