Evidence map›Paper›PMID 41944585›Full record

ArticleProtein science : a publication of the Protein Society2026

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

Matteo Arnaudi, Mattia Utichi, Kristine Degn, Matteo Tiberti, Ludovica Beltrame, Karolina Krzesińska, Pablo Sánchez-Izquierdo Besora, Eleni Kiachaki, Simone Scrima, Laura Bauer and 23 more

Abstract read
In one paragraph

Article in Protein science : a publication of the Protein Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

33 authors.

Matteo ArnaudiCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Mattia UtichiCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.ORCID https://orcid.org/0000-0002-4918-458X
Kristine DegnCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Matteo TibertiCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Ludovica BeltrameCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Karolina KrzesińskaCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.ORCID https://orcid.org/0009-0009-6337-023X
Pablo Sánchez-Izquierdo BesoraCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Eleni KiachakiCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Simone ScrimaCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Laura BauerCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Katrine MeldgårdCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Anna MelidiCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Lorenzo FavaroCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Anu OswalCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Guglielmo TedeschiDepartment of Biochemistry and Microbiology, University of Chemistry and Technology Prague, Prague, Czech Republic.ORCID https://orcid.org/0009-0000-9404-970X
Terézia DorčakováCancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark.ORCID https://orcid.org/0009-0002-2137-5533
Alberte Heering EstadCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Joachim BreitensteinCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Jordan SaferBioinformatic and Computational Biology Group, The Center for Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Paraskevi SaridakiCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Valentina SoraCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Francesca MaselliCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Philipp BeckerCancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark.
Jérémy VinhasCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Alberto PettenellaCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Matteo LambrughiCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.
Claudia CavaDepartment of Science, Technology and Society, Scuola Universitaria IUSS, Istituto Universitario di Studio Superiori, Pavia, Italy.
Anna RohlinDepartment of Clinical Genetics and Genomics, Sahlgrenska university hospital, Gothenburg, Sweden.
Mef NilbertDepartment of Oncology and Pathology, Institute of Clinical Medicine, Lund University, Lund, Sweden.
Sumaiya IqbalBioinformatic and Computational Biology Group, The Center for Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Peter Wad SackettCancer Systems Biology, Section for Bioinformatics, Department of Health and Technology, Technical University of Denmark, Lyngby, Denmark.
Burcu Aykac FasLaboratoire de Biochimie Théorique, CNRS (UPR9080), Université Paris Cité, Paris, France.ORCID https://orcid.org/0000-0003-3842-731X
Elena PapaleoCancer Structural Biology, Danish Cancer Institute, Copenhagen, Denmark.

Funding

Carlsberg Foundation CF18-0314COST (European Cooperation in Science and Technology)Danish Data Science AcademyDanmarks Grundforskningsfond DNRF125EuroHPC EHPC-BEN-2023B02-010EuroHPC EHPC-REG-2023R01-051Hartmanns Fond R241-A33877KBVU Pre-Graduate Fellowship R361-A21156LEO Foundation LF17006Merkin Institute of Transformative Technologies in HealthcareNovoNordisk Fonden NNF20OC0065262The Assar Gabrielsson's FoundationThe Healthcare Board, Region Västra Götaland
6 · The paper itself

Abstract

The role of genomic variants in disease has expanded significantly with the advent of advanced sequencing techniques. The rapid increase in identified genomic variants has led to many variants being classified as Variants of Uncertain Significance or as having conflicting evidence, posing challenges for their interpretation and characterization. Additionally, current methods for predicting pathogenic variants often lack insights into the underlying molecular mechanisms. Here, we introduce MAVISp (Multi-layered Assessment of VarIants by Structure for proteins), a modular structural framework for variant effects, accompanied by a web server (https://services.healthtech.dtu.dk/services/MAVISp-1.0/) to enhance data accessibility, consultation, and re-usability. MAVISp currently provides data on over 1000 proteins, encompassing more than 10 million variants. A team of biocurators regularly analyzes and updates protein entries using standardized workflows, incorporating free-energy calculations and biomolecular simulations. We illustrate the utility of MAVISp through selected case studies. The framework facilitates the analysis of variant effects at the protein level and has the potential to advance the understanding and application of mutational data in disease research.

Indexed as

Genetic VariationProteinsSoftwareDatabases, ProteinHumansMutationProtein ConformationProteinscancer genomicsfree energy calculationslong‐range structural communicationprotein functionprotein stabilityprotein structuresvariant effects

Identifiers

PMID41944585
PMCPMC13055194

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.