Mutplot

Mutplot maps amino acid changes onto UniProt protein domain annotations and generates annotated lollipop diagrams to aid functional interpretation of protein-coding mutations from sequencing data.

Key Features:

• Integration with protein structure and function: Maps amino acid changes to protein domain and functional annotations to provide context for mutation interpretation.
• UniProt domain retrieval: Retrieves up-to-date domain and annotation information from UniProt (https://www.uniprot.org/).
• Annotated lollipop diagrams: Generates lollipop diagrams with position-specific annotations to visualize mutation locations on proteins.
• Recurrent mutation detection with user-defined cutoffs: Identifies and highlights recurrent mutations using user-specified recurrence thresholds.

Scientific Applications:

• Clinical interpretation: Supports interpretation of sequencing-derived protein-coding mutations to inform diagnosis, prognosis, and treatment considerations.
• Mutation pattern analysis: Enables visualization of mutation distributions and identification of recurrent or hotspot mutations in sequencing datasets.
• Candidate mutation highlighting: Produces annotated summaries that highlight candidate mutations for further functional evaluation.

Methodology:

Integrates user-submitted mutation data with protein domain annotations retrieved from UniProt (https://www.uniprot.org/) and generates annotated lollipop diagrams while applying user-defined recurrence cutoffs to highlight recurrent mutations.