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Human Missense Variation is Constrained by Domain Structure and Highlights Functional and Pathogenic Residues
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
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Application of multiple sequence alignment profiles to improve protein secondary structure prediction
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Dictionary of protein secondary structure: Pattern recognition of hydrogen‐bonded and geometrical features
inferredcites →https://doi.org/10.1002/jcc.20084openalex-snapshot
UCSF Chimera—A visualization system for exploratory research and analysis
inferredcites →https://doi.org/10.1002/prot.340110408openalex-snapshot
Information‐theoretical entropy as a measure of sequence variability
inferredcites →https://doi.org/10.1016/j.atg.2013.08.001openalex-snapshot
Disease consequences of human adaptation
inferredcites →https://doi.org/10.1016/j.cels.2015.08.014openalex-snapshot
Pan-Cancer Analysis of Mutation Hotspots in Protein Domains
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Hepatocyte Nuclear Factor 4 Is a Transcription Factor that Constitutively Binds Fatty Acids
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Crystal Structures of c-Src Reveal Features of Its Autoinhibitory Mechanism
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Adaptive protein evolution at the Adh locus in Drosophila
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Structure of the intact PPAR-γ–RXR-α nuclear receptor complex on DNA
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A map of human genome variation from population-scale sequencing
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Molecular control of δ-opioid receptor signalling
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Analysis of protein-coding genetic variation in 60,706 humans
inferredcites →https://doi.org/10.1038/nrm2762openalex-snapshot
Structural and functional constraints in the evolution of protein families
inferredcites →https://doi.org/10.1038/nsmb.1855openalex-snapshot
A unique secondary-structure switch controls constitutive gene repression by retinoic acid receptor
inferredcites →https://doi.org/10.1038/nsmb.3400openalex-snapshot
Parkin–phosphoubiquitin complex reveals cryptic ubiquitin-binding site required for RBR ligase activity
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Structural basis for PPAR partial or full activation revealed by a novel ligand binding mode
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The signaling phospholipid PIP 3 creates a new interaction surface on the nuclear receptor SF-1
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Deep sequencing of 10,000 human genomes
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The X-ray Structure of RU486 Bound to the Progesterone Receptor in a Destabilized Agonistic Conformation
inferredcites →https://doi.org/10.1074/jbc.m407999200openalex-snapshot
Evidence for Ligand-independent Transcriptional Activation of the Human Estrogen-related Receptor α (ERRα)
inferredcites →https://doi.org/10.1093/bioinformatics/btm404openalex-snapshot
Clustal W and Clustal X version 2.0
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Jalview Version 2—a multiple sequence alignment editor and analysis workbench
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Biopython: freely available Python tools for computational molecular biology and bioinformatics
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Java bioinformatics analysis web services for multiple sequence alignment—JABAWS:MSA
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SIFTS: Structure Integration with Function, Taxonomy and Sequences resource
inferredcites →https://doi.org/10.1093/nar/gkt1223openalex-snapshot
Pfam: the protein families database
inferredcites →https://doi.org/10.1093/nar/gkv1047openalex-snapshot
PDBe: improved accessibility of macromolecular structure data from PDB and EMDB
inferredcites →https://doi.org/10.1093/nar/gkv1222openalex-snapshot
ClinVar: public archive of interpretations of clinically relevant variants
inferredcites →https://doi.org/10.1093/nar/gkv1344openalex-snapshot
The Pfam protein families database: towards a more sustainable future
inferredcites →https://doi.org/10.1126/science.1215040openalex-snapshot
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
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Molecular Signatures of Natural Selection
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Predicting active site residue annotations in the Pfam database
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A protein domain-centric approach for the comparative analysis of human and yeast phenotypically relevant mutations
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LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer
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The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes
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Identification of a New Hormone-Binding Site on the Surface of Thyroid Hormone Receptor
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Protein Domain-Level Landscape of Cancer-Type-Specific Somatic Mutations
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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
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Protein 3D Structure Computed from Evolutionary Sequence Variation
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Maximum Allowed Solvent Accessibilites of Residues in Proteins
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Design, Chemical synthesis, Functional characterization and Crystal structure of the sidechain analogue of 1,25-dihydroxyvitamin D3.
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1002/pro.3783openalex-snapshot
The Dundee Resource for Sequence Analysis and Structure Prediction
inferred← citeshttps://doi.org/10.1016/j.jmb.2022.167529openalex-snapshot
Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators
inferred← citeshttps://doi.org/10.1038/s10038-025-01338-wopenalex-snapshot
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level
inferred← citeshttps://doi.org/10.1038/s42003-024-05970-8openalex-snapshot
Classification of likely functional class for ligand binding sites identified from fragment screening
inferred← citeshttps://doi.org/10.1038/s42003-024-06117-5openalex-snapshot
A unified analysis of evolutionary and population constraint in protein domains highlights structural features and pathogenic sites
inferred← citeshttps://doi.org/10.1093/nar/gkaf411openalex-snapshot
LIGYSIS-web: a resource for the analysis of protein-ligand binding sites
inferred← citeshttps://doi.org/10.1098/rsob.250230openalex-snapshot
Mutations within the predicted fragment-binding region of FAM83G/SACK1G abolish its interaction with the Ser/Thr kinase CK1α
inferred← citeshttps://doi.org/10.1101/2020.05.03.074781openalex-snapshot
Missense variants in ACE2 are predicted to encourage and inhibit interaction with SARS-CoV-2 Spike and contribute to genetic risk in COVID-19
inferred← citeshttps://doi.org/10.1186/s13073-023-01264-6openalex-snapshot
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
inferred← citeshttps://doi.org/10.1371/journal.pcbi.1009335openalex-snapshot
Ankyrin repeats in context with human population variation
inferred← citeshttps://doi.org/10.1371/journal.pcbi.1009922openalex-snapshot
Missense variants in human ACE2 strongly affect binding to SARS-CoV-2 Spike providing a mechanism for ACE2 mediated genetic risk in Covid-19: A case study in affinity predictions of interface variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26652603openalex-snapshot
Additional file 1 of Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
inferred← citeshttps://doi.org/10.6084/m9.figshare.26652606openalex-snapshot
Additional file 2 of Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
inferred← citeshttps://doi.org/10.7287/peerj.11774v0.1/reviews/1openalex-snapshot
Peer Review #1 of "Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants (v0.1)"
inferred← citeshttps://doi.org/10.7287/peerj.11774v0.1/reviews/2openalex-snapshot
Peer Review #2 of "Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants (v0.1)"
inferred← citeshttps://doi.org/10.7287/peerj.11774v0.2/reviews/1openalex-snapshot
Peer Review #1 of "Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants (v0.2)"
inferred← citeshttps://doi.org/10.7287/peerj.11774v0.2/reviews/2openalex-snapshot
Peer Review #2 of "Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants (v0.2)"
inferred← citeshttps://doi.org/10.7287/peerj.11774v0.3/reviews/2openalex-snapshot
Peer Review #2 of "Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants (v0.3)"
inferred← citeshttps://doi.org/10.7717/peerj.11774openalex-snapshot
Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants
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