ArticleScientific reports2017
Genetic variants affecting equivalent protein family positions reflect human diversity.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Discriminating activating, deactivating and resistance variants in protein kinases.Genome medicine · 2025Article
- Recurrent high-impact mutations at cognate structural positions in class A G protein-coupled receptors expressed in tumors.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- The mutational landscape of human olfactory G protein-coupled receptors.BMC biology · 2021Article
- Protein-protein and protein-nucleic acid binding residues important for common and rare sequence variants in human.BMC bioinformatics · 2020Article
- Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.Oncogene · 2019Article
- Visualization of drug target interactions in the contexts of pathways and networks with ReactomeFIViz.F1000Research · 2019Article
- Pharmacogenomics of GPCR Drug Targets.Cell · 2018Article
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Members of diverse protein families often perform overlapping or redundant functions meaning that different variations within them could reflect differences between individual organisms. We investigated likely functional positions within aligned protein families that contained a significant enrichment of nonsynonymous variants in genomes of healthy individuals. We identified more than a thousand enriched positions across hundreds of family alignments with roles indicative of mammalian individuality, including sensory perception and the immune system. The most significant position is the Arginine from the Olfactory receptor "DRY" motif, which has more variants in healthy individuals than all other positions in the proteome. Odorant binding data suggests that these variants lead to receptor inactivity, and they are mostly mutually exclusive with other loss-of-function (stop/frameshift) variants. Some DRY Arginine variants correlate with smell preferences in sub-populations and all 2,504 humans studied contain a unique spectrum of active and inactive receptors. The many other variant enriched positions, across hundreds of other families might also provide insights into individual differences.
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