biostudies-literatureIMEx Consortium CuratorsBritish Heart FoundationEuropean Research CouncilNHGRI NIH HHSNIGMS NIH HHS10https://www.ebi.ac.uk/biostudies/studies/S-EPMC6315030biostudies-literatureUnknown10(1)The current wealth of genomic variation data identified at nucleotide level presents the challenge of understanding by which mechanisms amino acid variation affects cellular processes. These effects may manifest as distinct phenotypic differences between individuals or result in the development of disease. Physical interactions between molecules are the linking steps underlying most, if not all, cellular processes. Understanding the effects that sequence variation has on a molecule's interactions is a key step towards connecting mechanistic characterization of nonsynonymous variation to phenotype. We present an open access resource created over 14 years by IMEx database curators, featuring 28,000 annotations describing the effect of small sequence changes on physical protein interactions. Nature communicationsCapturing variation impact on molecular interactions in the IMEx Consortium mutations data set.PMC6315030P20 GM103446322749R01 GM123126U41 HG002273U01 GM120953U24 HG007822U41 HG007822RG/13/5/30112R01 GM080646Lovering RCPellegrini MCesareni GOchoa DCampbell NHBeltrao PAmmari MGDel-Toro NDuesbury MLynn DJIannuccelli MKoch MLicata LPanni SShrivastava ARoechert BRicard-Blum Svan Roey KJurisica IPastrello CMahadevan UThorneycroft DRaghunath AHermjakob HJagannathan SRodriguez-Lopez MMelidoni ANWagih OChen COrchard SPorras PPinero JSalwinski LKhadake JBroackes-Carter FFurlong LIMeldal BIMEx Consortium CuratorsPerfetto LBridge AMcCarthy FAbbani SKotlyar MfalseCapturing variation impact on molecular interactions in the IMEx Consortium mutations data set.The current wealth of genomic variation data identified at nucleotide level presents the challenge of understanding by which mechanisms amino acid variation affects cellular processes. These effects may manifest as distinct phenotypic differences between individuals or result in the development of disease. Physical interactions between molecules are the linking steps underlying most, if not all, cellular processes. Understanding the effects that sequence variation has on a molecule's interactions is a key step towards connecting mechanistic characterization of nonsynonymous variation to phenotype. We present an open access resource created over 14 years by IMEx database curators, featuring 28,000 annotations describing the effect of small sequence changes on physical protein interactions. 2019-01-01T00:00:00Z2019 Jan2025-04-21T15:08:11.409Z2019-03-26T22:29:56ZS-EPMC63150303060277710.1038/s41467-018-07709-6