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MLH1 (NM_001258271) - mutL homolog 1

Dna Mismatch Repair Protein Mlh1 Isoform 4

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.

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 MLH1 protein. View all 7 isoforms
MLH1: DNA mismatch repair protein Mlh1 isoform 4
Description:

The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017].

Strand
+
Chromosome
3
Protein
687 residues
All mutations
1032
PTM sites
38
CDS
37,035,038 - 37,092,144
Transcription
37,034,840 - 37,092,337
21.69% 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: 4292
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.