MISCAST

MISCAST maps missense variants onto protein sequences and three-dimensional structures to support analysis of their potential effects on protein structure and function.


Key Features:

  • Variant mapping: Maps missense variants to protein sequence positions and corresponding three-dimensional residues to contextualize substitutions.
  • Feature integration: Aggregates structural and functional features from multiple databases and aligns them with protein residues.
  • Functional annotation: Annotates variants with information relevant to macromolecular interactions and cellular signaling pathways to assess potential disruptions.
  • Spatial pathogenic clustering: Identifies variants located in the protein core or within three-dimensional clusters associated with pathogenic mutations.
  • Exportable annotations and structures: Provides annotated variant data and protein structure files for download to enable offline analysis.

Scientific Applications:

  • Variant effect interpretation: Assess how amino acid substitutions affect protein structure and function at the molecular level.
  • Interaction disruption analysis: Evaluate whether variants may disrupt essential macromolecular interactions or cellular signaling pathways.
  • Structural localization: Determine whether variants reside in the protein core or in three-dimensional clusters associated with pathogenic mutations.
  • Offline structural analysis: Perform detailed examination of missense variants using downloaded annotated data and protein structures.

Methodology:

Aggregates structural and functional features from multiple databases, maps missense variants onto protein sequence and three-dimensional structures, aligns and displays these features alongside variants on protein structures, and provides annotated data and structure files for download.

Topics

Details

Tool Type:
command-line tool, web application
Programming Languages:
R
Added:
1/18/2021
Last Updated:
2/24/2021

Operations

Publications

Iqbal S, Hoksza D, Pérez-Palma E, May P, Jespersen JB, Ahmed SS, Rifat ZT, Heyne HO, Rahman MS, Cottrell JR, Wagner FF, Daly MJ, Campbell AJ, Lal D. MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. Nucleic Acids Research. 2020;48(W1):W132-W139. doi:10.1093/nar/gkaa361. PMID:32402084. PMCID:PMC7319582.

PMID: 32402084
PMCID: PMC7319582
Funding: - FNR MiRisk-PD: C17/BM/1167395 - BMBF: 01GM1907 - DFG: FNR INTER/DFG/17/11583046

Links