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UniProtKB/Swiss-Prot P31644: Variant p.Val294Phe

Gamma-aminobutyric acid receptor subunit alpha-5
Gene: GABRA5
Variant information

Variant position:  294
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Valine (V) to Phenylalanine (F) at position 294 (V294F, p.Val294Phe).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (V) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In DEE79; decreased subcellular localization to the cell membrane resulting in altered protein localization to the synapse and altered gamma-aminobutyric acid signaling pathway.
Any additional useful information about the variant.



Sequence information

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:   LSQVSFWLNRESVPARTVFG  V TTVLTMTTLSISARNSLPKV
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                         LSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKV

Mouse                         LSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKV

Rat                           LSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKV

Bovine                        LSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKV

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.

TypePositionsDescription
Chain 32 – 462 Gamma-aminobutyric acid receptor subunit alpha-5
Transmembrane 286 – 307 Helical
Helix 286 – 308


Literature citations

Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
Hernandez C.C.; Xiang Wei W.; Hu N.; Shen D.; Shen W.; Lagrange A.H.; Zhang Y.; Dai L.; Ding C.; Sun Z.; Hu J.; Zhu H.; Jiang Y.; Macdonald R.L.;
Brain 142:1938-1954(2019)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN DEE79; VARIANTS DEE79 PHE-294 AND PHE-413; CHARACTERIZATION OF VARIANTS DEE79 PHE-294 AND PHE-413;

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.