Article

Contiguously-hydrophobic sequences are functionally significant throughout the human exome

2021-09-04

Abstract excerpt

Hydrophobic interactions have long been established as essential to stabilizing structured proteins as well as drivers of aggregation, but the impact of hydrophobicity on the functional significance of sequence variants has rarely been considered in a genome-wide context. Here we test the role of hydrophobicity on functional impact using a set of 70,000 disease and non-disease associated single nucleotide polymorp...

Topics

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

Identifiers and source

Literature Corpus work: 2d80737c-24a5-5a76-9d22-91bcf31261d1
DOI: 10.1101/2021.09.02.458776

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Contiguously-hydrophobic sequences are functionally significant throughout the human exomeDOI 10.1101/2021.09.02.458776Read

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

A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein.Semantic proximity Read

An exhaustive analysis of single amino acid variants in helical transmembrane proteinsSemantic proximity Read

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.Semantic proximity Read

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

A unified approach to evolutionary conservation and population constraint in protein domains highlights structural features and pathogenic sitesSemantic proximity Read

An Association Test of the Spatial Distribution of Rare Missense Variants within Protein Structures Improves Statistical Power of Sequencing StudiesSemantic proximity Read

Missense variants in health and disease affect distinct functional pathways and proteomics featuresSemantic proximity Read

Empowering rare variant burden-based gene-trait association studies via optimized computational predictor choiceSemantic proximity Read

Ankyrin repeats in context with human population variation.Semantic proximity Read

Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential.Semantic proximity Read

Functional impacts of non-synonymous single nucleotide polymorphisms: selective constraint and structural environments.Semantic proximity Read