Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 462 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 LSQVSFWLNRESVPARTVFG VTTVLTMTTLSISARNSLPKV
Mouse LSQVSFWLNRESVPARTVFG VTTVLTMTTLSISARNSLPKV
Rat LSQVSFWLNRESVPARTVFG VTTVLTMTTLSISARNSLPKV
Bovine LSQVSFWLNRESVPARTVFG VTTVLTMTTLSISARNSLPKV
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
32 – 462 Gamma-aminobutyric acid receptor subunit alpha-5
286 – 307 Helical
286 – 308
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 DEE79; VARIANT DEE79 LEU-294; CHARACTERIZATION OF VARIANT DEE79 LEU-294;
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