Sequence information
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:
NSLPKVAYATAMDWFIAVCY
A FVFSALIEFATVNYFTKRGY
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 NSLPKVAYATAMDWFIAVCYA FVFSALIEFATVNYFTKRGY
Mouse NSLPKVAYATAMDWFIAVCYA FVFSALIEFATVNYFTKRGY
Rat NSLPKVAYATAMDWFIAVCYA FVFSALIEFATVNYFTKRGY
Bovine NSLPKVAYATAMDWFIAVCYA FVFSALIEFATVNYFTKRGY
Chicken NSLPKVAYATAMDWFIAVCYA FVFSALIEFATVNYFTKRGY
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
28 – 456
Gamma-aminobutyric acid receptor subunit alpha-1
Transmembrane
313 – 334
Helical
Mutagenesis
333 – 333
T -> A. Reduced potentiation and activation by the agonist alphaxalone.
Helix
312 – 336
Literature citations
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;
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.