Variant position: 263 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:
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 HFHLKRKIGYFVIQTYLPCI MTVILSQVSFWLNRESVPART
Mouse HFHLKRKIGYFVIQTYLPCI MTVILSQVSFWLNRESVPART
Rat HFHLKRKIGYFVIQTYLPCI MTVILSQVSFWLNRESVPART
Bovine HFHLKRKIGYFVIQTYLPCI MTVILSQVSFWLNRESVPART
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
29 – 451 Gamma-aminobutyric acid receptor subunit alpha-2
252 – 273 Helical
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.;
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;
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