GABRA1 - NM_001127644 - protein view

Mutations Visualisation

The Mutations Visualisation needle plot provides a visual summary of the location, frequency and functional significance of all known mutations in your protein of interest. The placement of the pins corresponds to the location along the protein’s sequence, while the mutation impact and PTM associated with it is explained in the figure legend.

- Height (y axis) represents the number of occurrences of the mutation
- Horizontal position (x axis) represents the position along your protein’s amino acid sequence
- Pinhead colour represents the mutation impact (figure legend)
- X axis colouring represents the type of PTM associated with the mutation location (figure legend)

Zooming in/out
Too zoom in/out of a specific amino acid sequence, you can either use the magnifying glass icons below the needle plot, or you can use your mouse scroll wheel while hovering over the needle plot. Furthermore, you can enter a specific amino acid sequence range in the search bar and hit “Go!”

Saving the image
The Mutations Visualisation figure can be saved as an SVG or PDF format by clicking on the “Save image as” button at the top right of the plot.

Tracks
While the x axis of the Mutations Visualization plot indicates the amino acid sequence location, additional positional details are visualized using the tracks found here:

- Sequence track: amino acid sequence of your protein of interest
- Disorder track: (Not sure about this myself)
- Domains track: proteins domains identified in the amino acid sequence
- Mutations track: the specific amino acid substitutions detected at the specific site

If there is a specific region of the amino acid sequence you are interested in, you can zoom onto it using the magnifying glass icons below the Mutations Visualization plot. Alternatively, you can zoom in and out by using your mouse scroll wheel while hovering over the needle plot.

amino acids

Protein summary

The protein summary provides brief information regarding your protein, namely: its full name, a brief description of its function, and genomic location of the coding gene.

This is an alternative isoform of GABRA1 protein. View all 5 isoforms

GABRA1: gamma-aminobutyric acid receptor subunit alpha-1 precursor

Description:

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008].

Strand: +
Chromosome: 5

Protein: 456 residues
All mutations: 191

PTM sites: 0
CDS: 161,277,816 - 161,324,428
Transcription: 161,274,939 - 161,326,965

16.01% of sequence is predicted to be disordered

External references

RefSeq, Entrez, Uniprot and Enzembl IDs related to your search query.

Mappings retrieved from NCBI & UniProt.

RefSeq RefSeq IDs relevant to your search query.

Entrez: gene: 2554

UniProt All links following an Uniprot accession refer to this accession. Orange icon ( ) next to an accession indicates that the entry belongs to SwissProt: a reviewed subset of Uniprot knowledgebase. Rarely links to external resources may not work. This is common for new or unreviewed ( ) entries.

Ensembl

GABRA1 (NM_001127644) - gamma-aminobutyric acid type A receptor subunit alpha1

Data Filters

Show only the mutations which affect specific PTM sites and/or in specific populations (updates both the Mutations Visualisation plot and table found on the Sequence View tab, and the PTM Interaction Network Visualisation plot found on the Network View tab)

Legend

Sites

Amino acid sites/regions enriched for mutations affecting post-translational modifications (PTMs).

Others

Protein summary

The protein summary provides brief information regarding your protein, namely: its full name, a brief description of its function, and genomic location of the coding gene.

External references

RefSeq, Entrez, Uniprot and Enzembl IDs related to your search query.

GABRA1 (NM_001127644) - gamma-aminobutyric acid type A receptor subunit alpha1

Data Filters Show only the mutations which affect specific PTM sites and/or in specific populations (updates both the Mutations Visualisation plot and table found on the Sequence View tab, and the PTM Interaction Network Visualisation plot found on the Network View tab)

Legend

Sites Amino acid sites/regions enriched for mutations affecting post-translational modifications (PTMs).

Others

Protein summary The protein summary provides brief information regarding your protein, namely: its full name, a brief description of its function, and genomic location of the coding gene.

External references RefSeq, Entrez, Uniprot and Enzembl IDs related to your search query.

Data Filters

Show only the mutations which affect specific PTM sites and/or in specific populations (updates both the Mutations Visualisation plot and table found on the Sequence View tab, and the PTM Interaction Network Visualisation plot found on the Network View tab)

Sites

Amino acid sites/regions enriched for mutations affecting post-translational modifications (PTMs).

Protein summary

The protein summary provides brief information regarding your protein, namely: its full name, a brief description of its function, and genomic location of the coding gene.

External references

RefSeq, Entrez, Uniprot and Enzembl IDs related to your search query.