Article

Decoding molecular mechanisms for loss-of-function variants in the human proteome

2024-05-22

Abstract excerpt

Proteins play a critical role in cellular function by interacting with other biomolecules; missense variants that cause loss of protein function can lead to a broad spectrum of genetic disorders. While much progress has been made on predicting which missense variants may cause disease, our ability to predict the underlying molecular mechanisms remain limited. One common mechanism is that missense variants cause pr...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 8cf4d724-29c1-5bb6-80d8-f10e6cf27ada
DOI: 10.1101/2024.05.21.595203

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Decoding molecular mechanisms for loss-of-function variants in the human proteomeDOI 10.1101/2024.05.21.595203Read

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure.Semantic proximity Read

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure: implications for variant effect predictionSemantic proximity Read

Functionally constrained human proteins are less prone to mutational instability caused by single amino acid substitutionsSemantic proximity Read

Interpreting the molecular mechanisms of disease variants in human transmembrane proteinsSemantic proximity Read

Predicting the effects of amino acid substitutions on protein function.Semantic proximity Read

Human Proteome-wide Mechanistic Interpretation of Missense Variants through Protein Feature Enrichment ScoreSemantic proximity Read

Protein structural context of cancer mutations reveals molecular mechanisms and candidate driver genes.Semantic proximity Read

Insights into Disease-Associated Mutations in the Human Proteome through Protein Structural Analysis.Semantic proximity Read

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteinsSemantic proximity Read

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.Semantic proximity Read

Loss of post-translational modification sites in disease.Semantic proximity Read

A deep catalog of protein-coding variation in 985,830 individualsSemantic proximity Read