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Related Concept Videos

Protein and Protein Structure02:15

Protein and Protein Structure

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.
A protein's shape is critical to its function. For example, an enzyme can...
Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order to...
Structural Protein Function01:56

Structural Protein Function

Structural proteins are a category of proteins responsible for functions ranging from cell shape and movement to providing support to major structures such as bones, cartilage, hair, and muscles. This group includes proteins such as collagen, actin, myosin, and keratin.
Collagen, the most abundant protein in mammals, is found throughout the body. In connective tissue, such as skin, ligaments, and tendons, it provides tensile strength and elasticity.  In bones and teeth, it mineralizes to form...
Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order to...
Structural Protein Function01:56

Structural Protein Function

Structural proteins are a category of proteins responsible for functions ranging from cell shape and movement to providing support to major structures such as bones, cartilage, hair, and muscles. This group includes proteins such as collagen, actin, myosin, and keratin.
Collagen, the most abundant protein in mammals, is found throughout the body. In connective tissue, such as skin, ligaments, and tendons, it provides tensile strength and elasticity.  In bones and teeth, it mineralizes to form...
Protein and Protein Structures02:15

Protein and Protein Structures

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.
A protein's shape is critical to its function. For example, an enzyme can...

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Updated: Jun 13, 2026

MicroRNA Based Liquid Biopsy: The Experience of the Plasma miRNA Signature Classifier MSC for Lung Cancer Screening
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MicroRNA Based Liquid Biopsy: The Experience of the Plasma miRNA Signature Classifier MSC for Lung Cancer Screening

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MAVISp: A modular structure-based framework for protein variant effects.

Matteo Arnaudi1,2, Mattia Utichi1,2, Kristine Degn1,2

  • 1Cancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.

Protein Science : a Publication of the Protein Society
|April 7, 2026
PubMed
Summary
This summary is machine-generated.

MAVISp is a new structural framework that assesses the effects of genomic variants on proteins. It aids in interpreting variants of uncertain significance and understanding disease mechanisms.

Keywords:
cancer genomicsfree energy calculationslong‐range structural communicationprotein functionprotein stabilityprotein structuresvariant effects

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Area of Science:

  • Genomics
  • Structural Biology
  • Bioinformatics

Background:

  • Genomic variants play a crucial role in disease, but many are classified as Variants of Uncertain Significance.
  • Current prediction methods for pathogenic variants often lack mechanistic insights.
  • Interpreting and characterizing genomic variants remains a challenge.

Purpose of the Study:

  • To introduce MAVISp (Multi-layered Assessment of VarIants by Structure for proteins), a novel structural framework for variant effect assessment.
  • To provide a web server for enhanced data accessibility, consultation, and re-usability of variant effect data.
  • To improve the understanding of molecular mechanisms underlying variant pathogenicity.

Main Methods:

  • Development of a modular structural framework (MAVISp) for variant effect analysis.
  • Incorporation of free-energy calculations and biomolecular simulations.
  • Regular curation and updating of protein entries by biocurators.

Main Results:

  • MAVISp provides data on over 1000 proteins and 10 million variants.
  • The framework facilitates analysis of variant effects at the protein level.
  • Case studies demonstrate the utility of MAVISp in analyzing variant effects.

Conclusions:

  • MAVISp enhances the interpretation of genomic variants, particularly those of uncertain significance.
  • The framework offers insights into molecular mechanisms of variant effects.
  • MAVISp has the potential to advance the application of mutational data in disease research.