ArticleScientific data2024
Analysis of AlphaMissense data in different protein groups and structural context.
Article in Scientific data, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
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Who cites it
87 citing papers in PubMed, 1 synthesis or guideline pooled it.
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- Dynamics-aware evolutionary profiling uncouples structural rigidity from functional motion to enable enhanced variant interpretation.Functional & integrative genomics · 2026Article
- Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants.Clinical genetics · 2026Article
- Effects of Amino Acid Point Mutations on the Local Hydrophobicity, Structural Stability, and Conformational Flexibility of P-Glycoprotein.Biomolecules · 2026Article
- Arl8b inactivates the Rab11a recycling pathway to promote LAMP1 sorting and lysosome biogenesis.The Journal of cell biology · 2026Article
- De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.American journal of human genetics · 2026Article
- AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.Journal of neuromuscular diseases · 2026Article
- AI in variant analysis: fast track to genetic diagnoses.Human genetics · 2026Review
- Structural mechanisms of drebrin-mediated F-actin network modulation.Nature communications · 2026Article
- Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.International journal of molecular sciences · 2026Article
- Systematic mapping of O-GlcNAc transferase and O-GlcNAcase defines disease-associated variants.The Journal of biological chemistry · 2026Article
- Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis.Ophthalmology science · 2026Article
- Disease associated missense substitutions disrupt structural stability and catalytic function of 4-hydroxyphenylpyruvate dioxygenase.The Journal of biological chemistry · 2026Article
- Disruption of the structural maintenance of chromosomes 5/6 complex enables tumor mutagenesis.NAR cancer · 2026Article
- Functional evaluation of TRPC6 missense variants in cancer patients via molecular docking analysis compared with patch Clamp electrophysiology.The Journal of biological chemistry · 2026Article
- Article
- Microenvironmental pH and host-pathogen co-evolution potentially influence the structural architecture of junctional adhesion molecules.Molecular genetics and genomics : MGG · 2026Article
27 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Single amino acid substitutions can profoundly affect protein folding, dynamics, and function. The ability to discern between benign and pathogenic substitutions is pivotal for therapeutic interventions and research directions. Given the limitations in experimental examination of these variants, AlphaMissense has emerged as a promising predictor of the pathogenicity of missense variants. Since heterogenous performance on different types of proteins can be expected, we assessed the efficacy of AlphaMissense across several protein groups (e.g. soluble, transmembrane, and mitochondrial proteins) and regions (e.g. intramembrane, membrane interacting, and high confidence AlphaFold segments) using ClinVar data for validation. Our comprehensive evaluation showed that AlphaMissense delivers outstanding performance, with MCC scores predominantly between 0.6 and 0.74. We observed low performance on disordered datasets and ClinVar data related to the CFTR ABC protein. However, a superior performance was shown when benchmarked against the high quality CFTR2 database. Our results with CFTR emphasizes AlphaMissense's potential in pinpointing functional hot spots, with its performance likely surpassing benchmarks calculated from ClinVar and ProteinGym datasets.
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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.