Related Experiment Video
Updated: May 27, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
CATVariant: a web server for integrated protein variant interpretation across sequence, structure, population, and
Khoa Ngo1,2, Hajar Amini1,2, Igor Vorobyov1,2,3
1Center for Precision Medicine and Data Sciences, University of California Davis School of Medicine, Sacramento, CA 95817, United States.
Nucleic Acids Research
|May 26, 2026
Summary
Interpreting protein variants is challenging due to scattered data. CATVariant integrates diverse evidence, enabling rapid, scalable variant prioritization for research and clinical applications.
Area of Science:
- Genomics
- Bioinformatics
- Structural Biology
Background:
- Interpreting the impact of protein variants is complex, requiring data from multiple sources like sequence, structure, population, clinical, and experimental studies.
- Evidence for variant effects is often fragmented across various databases and literature, hindering efficient analysis.
Purpose of the Study:
- To develop an integrated framework for protein variant interpretation by consolidating heterogeneous evidence sources.
- To create an open-access web server, CATVariant, for harmonizing and analyzing residue-level information from diverse resources.
Main Methods:
- CATVariant integrates data from sequence, structure, population, clinical, experimental, and literature resources.
- The web server retrieves, harmonizes, and analyzes residue-level information, generating an integrated evidence map.
- It links sequence and structural views to variant tables, structural analyses, experimental data, population/disease context, and literature.
Main Results:
- CATVariant provides a unified framework for rapid transition from protein-wide overviews to specific variant evaluations.
- Analysis of 6388 ClinVar variants across 22 proteins demonstrated improved variant prioritization.
- In comparisons of random pathogenic-benign variant pairs, pathogenic variants were ranked higher 76% of the time.
Conclusions:
- CATVariant enables rapid, transparent, and scalable prioritization of protein variants.
- The integrated evidence approach supports mechanistic understanding and experimental follow-up.
- This tool facilitates the interpretation of structural, functional, and clinical impacts of protein variants.
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A limited set of protein domains often duplicate and recombine during evolution. These domains can be organized in different combinations to form...
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The primary structure of a protein is its amino acid sequence.
The primary structure of a protein is its amino acid sequence.
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Proteins are one of the most abundant organic molecules in living systems and have the most diverse range of functions of all macromolecules. Proteins may be structural, regulatory, contractile, or protective. They may serve in transport, storage, or membranes; or they may be toxins or enzymes. Their structures, like their functions, vary greatly. They are all, however, amino acid polymers arranged in a linear sequence.
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