Variant position: 322 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 456 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 NSLPKVAYATAMDWFIAVCY AFVFSALIEFATVNYFTKRGY
Mouse NSLPKVAYATAMDWFIAVCY AFVFSALIEFATVNYFTKRGY
Rat NSLPKVAYATAMDWFIAVCY AFVFSALIEFATVNYFTKRGY
Bovine NSLPKVAYATAMDWFIAVCY AFVFSALIEFATVNYFTKRGY
Chicken NSLPKVAYATAMDWFIAVCY AFVFSALIEFATVNYFTKRGY
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
28 – 456 Gamma-aminobutyric acid receptor subunit alpha-1
313 – 334 Helical
333 – 333 T -> A. Reduced potentiation and activation by the agonist alphaxalone.
312 – 336
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
Cossette P.; Liu L.; Brisebois K.; Dong H.; Lortie A.; Vanasse M.; Saint-Hilaire J.-M.; Carmant L.; Verner A.; Lu W.-Y.; Tian Wang Y.; Rouleau G.A.;
Nat. Genet. 31:184-189(2002)
Cited for: VARIANT EJM5 ASP-322;
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