PT  - JOURNAL ARTICLE
AU  - The IMEx Consortium Curators
AU  - N del Toro
AU  - M Duesbury
AU  - M Koch
AU  - L Perfetto
AU  - A Shrivastava
AU  - D Ochoa
AU  - O Wagih
AU  - J Piñero
AU  - M Kotlyar
AU  - C Pastrello
AU  - P Beltrao
AU  - LI Furlong
AU  - I Jurisica
AU  - H Hermjakob
AU  - S Orchard
AU  - P Porras
TI  - Capturing variation impact on molecular interactions: the IMEx Consortium mutations data set
AID  - 10.1101/346833
DP  - 2018 Jan 01
TA  - bioRxiv
PG  - 346833
4099  - http://biorxiv.org/content/early/2018/06/22/346833.short
4100  - http://biorxiv.org/content/early/2018/06/22/346833.full
AB  - The current wealth of genomic variation data identified at the nucleotide level has provided us with 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 amino acid variation of a molecule’s sequence has on its molecular interactions is a key step towards connecting a full mechanistic characterization of nonsynonymous variation to cellular phenotype. Here we present an open access resource created by IMEx database curators over 14 years, featuring 28,000 annotations fully describing the effect of individual point sequence changes on physical protein interactions. We describe how this resource was built, the formats in which the data content is provided and offer a descriptive analysis of the data set. The data set is publicly available through the IntAct website at www.ebi.ac.uk/intact/resources/datasets#mutationDs and is being enhanced with every monthly release.ContributionsS.O. and P.P. designed this study and wrote the manuscript. The IMEx Consortium curators generated the mutation annotations. M.D., S.O., M. Koch, N.dT., A.S. and P.P. re-curated the data set and implemented semi-automated quality control procedures. L.P., D.O., O.W., C.P., M. Kotlyar, J.P. and P.P. analysed the data. S.O., H.H., P.B., L.I.F., I.J. and P.P. interpreted the results and revised the manuscript.