ArticleHuman mutation2019
UniProt genomic mapping for deciphering functional effects of missense variants.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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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.
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Who cites it
32 citing papers in PubMed.
- Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.Human mutation · 2026Article
- Aptamers as Potential Inhibitors of Ethylene Biosynthesis: Identification and In Silico Selection.International journal of molecular sciences · 2025Article
- Noncanonical roles of chemokine regions in CCR9 activation revealed by structural modeling and mutational mapping.Nature communications · 2025Article
- Adefovir anticancer potential: Network pharmacology, anti-proliferative and apoptotic effects in HeLa cells.Biomolecules & biomedicine · 2025Article
- The differential impacts of equivalent gating-charge mutations in voltage-gated sodium channels.The Journal of general physiology · 2025Article
- Synergistic Antiemetic Effects of Nerolidol on Domperidone, Hyoscine, and Ondansetron: In Vivo and in Silico Investigations on Receptor Binding Affinity.ChemistryOpen · 2025Article
- Critical assessment of missense variant effect predictors on disease-relevant variant data.Human genetics · 2025Article
- Expression and immunological role of FUNDC2 in pan-cancer.PloS one · 2025Article
- PhenoMultiOmics: an enzymatic reaction inferred multi-omics network visualization web server.Bioinformatics (Oxford, England) · 2024Article
- Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.iScience · 2024Article
- Article
- ELUCIDATING THE DIFFERENTIAL IMPACTS OF EQUIVALENT GATING-CHARGE MUTATIONS IN VOLTAGE-GATED SODIUM CHANNELS.bioRxiv : the preprint server for biology · 2024Article
- Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.Molecular systems biology · 2024Article
- Antiemetic activity of abietic acid possibly through the 5HTScientific reports · 2024Article
- Resveratrol Inhibits Nasopharyngeal Carcinoma (NPC) by Targeting the MAPK Signaling Pathway.Anti-cancer agents in medicinal chemistry · 2024Article
- Anxiolytic-Pharmaceuticals (Basel, Switzerland) · 2023Article
- Quercetin Antagonizes the Sedative Effects of Linalool, Possibly through the GABAergic Interaction Pathway.Molecules (Basel, Switzerland) · 2023Article
- Article
- UniProt: the Universal Protein Knowledgebase in 2023.Nucleic acids research · 2023Article
- ASCARIS: Positional feature annotation and protein structure-based representation of single amino acid variations.Computational and structural biotechnology journal · 2023Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Understanding the association of genetic variation with its functional consequences in proteins is essential for the interpretation of genomic data and identifying causal variants in diseases. Integration of protein function knowledge with genome annotation can assist in rapidly comprehending genetic variation within complex biological processes. Here, we describe mapping UniProtKB human sequences and positional annotations, such as active sites, binding sites, and variants to the human genome (GRCh38) and the release of a public genome track hub for genome browsers. To demonstrate the power of combining protein annotations with genome annotations for functional interpretation of variants, we present specific biological examples in disease-related genes and proteins. Computational comparisons of UniProtKB annotations and protein variants with ClinVar clinically annotated single nucleotide polymorphism (SNP) data show that 32% of UniProtKB variants colocate with 8% of ClinVar SNPs. The majority of colocated UniProtKB disease-associated variants (86%) map to 'pathogenic' ClinVar SNPs. UniProt and ClinVar are collaborating to provide a unified clinical variant annotation for genomic, protein, and clinical researchers. The genome track hubs, and related UniProtKB files, are downloadable from the UniProt FTP site and discoverable as public track hubs at the UCSC and Ensembl genome browsers.
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