ReviewCurrent opinion in structural biology2010
Human allelic variation: perspective from protein function, structure, and evolution.
Review in Current opinion in structural biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed.
- Exploring roles for essential proteins in yeast filamentous growth identifies the WASP homolog Las17 as a regulator of the Cdc42-dependent fMAPK pathway.bioRxiv : the preprint server for biology · 2026Article
- Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects.Nature communications · 2025Article
- A systematic in-silico functional and structural analysis reveals deleterious missense nsSNPs in the humanMolecular biology research communications · 2025Article
- Transcription factor-binding k-mer analysis clarifies the cell type dependency of binding specificities and cis-regulatory SNPs in humans.BMC genomics · 2023Article
- Intragenic compensation through the lens of deep mutational scanning.Biophysical reviews · 2022Review
- PHACT: Phylogeny-Aware Computing of Tolerance for Missense Mutations.Molecular biology and evolution · 2022Article
- Association of TLR2 haplotypes encoding Q650 with reduced susceptibility to ovine Johne's disease in Turkish sheep.Scientific reports · 2021Article
- CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation.Human mutation · 2019Article
- The Damaging Effect of Passenger Mutations on Cancer Progression.Cancer research · 2017Article
- Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests.Human mutation · 2017Review
- Using sheep genomes from diverse U.S. breeds to identify missense variants in genes affecting fecundity.F1000Research · 2017Article
- Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.PLoS computational biology · 2016Review
- Using diverse U.S. beef cattle genomes to identify missense mutations inF1000Research · 2016Article
- Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.Human genetics · 2015Article
- Conformational dynamics of nonsynonymous variants at protein interfaces reveals disease association.Proteins · 2015Article
- Variability in pathogenicity prediction programs: impact on clinical diagnostics.Molecular genetics & genomic medicine · 2015Article
- Tug-of-war between driver and passenger mutations in cancer and other adaptive processes.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Article
- Prediction and experimental characterization of nsSNPs altering human PDZ-binding motifs.PloS one · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
It is widely anticipated that the coming year will be marked by the complete characterization of DNA sequence of protein-coding regions of thousands of human individuals. A number of existing computational methods use comparative protein sequence analysis and analysis of protein structure to predict the functional effect of coding human alleles. Functional and structural analysis of coding allelic variants can inform various aspects of research on human genetic variation. In population and evolutionary genetics it helps estimate the strength of purifying selection against deleterious missense mutations and study the imprint of demographic history on deleterious genetic variation. In medical genetics it may assist in the interpretation of uncharacterized mutations in genes involved in monogenic and oligogenic diseases. It has a potential to facilitate medical sequencing studies searching for genes underlying Mendelian diseases or harboring rare alleles involved in complex traits.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.