APPL2 - NM_001251904 - 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 APPL2 protein. View all 3 isoforms

APPL2: DCC-interacting protein 13-beta isoform 2

Description:

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011].

Strand: -
Chromosome: 12

Protein: 670 residues
All mutations: 109

PTM sites: 10
CDS: 105,568,091 - 105,629,790
Transcription: 105,567,074 - 105,630,008

18.81% 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: 55198

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

ENSP00000446917

APPL2 (NM_001251904) - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2

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.

APPL2 (NM_001251904) - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2

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.