Article

Missense variants in health and disease affect distinct functional pathways and proteomics features

2019-01-09

Abstract excerpt

1 Missense variants are present amongst the healthy population, but some of them are causative of human diseases. Therefore, a classification of variants associated with “healthy” or “diseased” states is not always straightforward. A deeper understanding of the nature of missense variants in health and disease, the cellular processes they may affect, and the general molecular principles which underlie these differ...

Topics

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

Identifiers and source

Literature Corpus work: 567533ac-38ce-5403-a36f-941b3a56f2dc
DOI: 10.1101/512764

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Missense variants in health and disease affect distinct functional pathways and proteomics featuresDOI 10.1101/512764Read

Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants.Semantic proximity Read

Human Missense Variation is Constrained by Domain Structure and Highlights Functional and Pathogenic ResiduesSemantic proximity Read

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

Decoding molecular mechanisms for loss-of-function variants in the human proteomeSemantic proximity Read

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

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

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

Characterizing and comparing missense variants in monogenic disease and in cancerSemantic proximity Read

PRESCOTT: a population aware, epistatic and structural model accurately predicts missense effectSemantic proximity Read

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effectsSemantic proximity Read

Evaluating variant effects in human proteins with ProtVarSemantic proximity Read

Disease mutations in disordered regions--exception to the rule?Semantic proximity Read