Variant position: 292 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 FWLNRESVPARTVFGVTTVL TMTTLSISARNSLPKVAYATA
Mouse FWLNRESVPARTVFGVTTVL TMTTLSISARNSLPKVAYATA
Rat FWLNRESVPARTVFGVTTVL TMTTLSISARNSLPKVAYATA
Bovine FWLNRESVPARTVFGVTTVL TMTTLSISARNSLPKVAYATA
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
279 – 300 Helical
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Butler K.M.; Moody O.A.; Schuler E.; Coryell J.; Alexander J.J.; Jenkins A.; Escayg A.;
Cited for: FUNCTION; INVOLVEMENT IN DEE78; VARIANT DEE78 LYS-292; CHARACTERIZATION OF VARIANT DEE78 LYS-292; VARIANT LYS-377;
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