Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

PLoS computational biology - 1 Aug 2016

Lugo-Martinez Jose, Pejaver Vikas, Pagel Kymberleigh A, Jain Shantanu, Mort Matthew, Cooper David N, Mooney Sean D, Radivojac Predrag

Abstract excerpt

Elucidating the precise molecular events altered by disease-causing genetic variants represents a major challenge in translational bioinformatics. To this end, many studies have investigated the structural and functional impact of amino acid substitutions. Most of these studies were however limited in scope to either individual molecular functions or were concerned with functional effects (e.g. deleterious vs....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computational Biology

Share to Computer Simulation

Share to Disease

Share to Models, Molecular

Share to Models, Statistical

Share to Protein Binding

Source

Open in PubMed Open full text

Identifiers

PMID: 27564311
DOI: 10.1371/journal.pcbi.1005091
PMCID: PMC5001644

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.PMID 27564311Read ↗

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 ↗

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

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

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

Knowledge-based computational mutagenesis for predicting the disease potential of human non-synonymous single nucleotide polymorphisms.Semantic proximity Read ↗

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

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

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypesSemantic proximity Read ↗

Sequence-based prediction of pathological mutations.Semantic proximity Read ↗

Prediction and interpretation of deleterious coding variants in terms of protein structural stabilitySemantic proximity Read ↗

Structural and functional restraints on the occurrence of single amino acid variations in human proteins.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.