| http://purl.uniprot.org/citations/25910212 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25910212 | http://www.w3.org/2000/01/rdf-schema#comment | "How disease-associated mutations impair protein activities in the context of biological networks remains mostly undetermined. Although a few renowned alleles are well characterized, functional information is missing for over 100,000 disease-associated variants. Here we functionally profile several thousand missense mutations across a spectrum of Mendelian disorders using various interaction assays. The majority of disease-associated alleles exhibit wild-type chaperone binding profiles, suggesting they preserve protein folding or stability. While common variants from healthy individuals rarely affect interactions, two-thirds of disease-associated alleles perturb protein-protein interactions, with half corresponding to "edgetic" alleles affecting only a subset of interactions while leaving most other interactions unperturbed. With transcription factors, many alleles that leave protein-protein interactions intact affect DNA binding. Different mutations in the same gene leading to different interaction profiles often result in distinct disease phenotypes. Thus disease-associated alleles that perturb distinct protein activities rather than grossly affecting folding and stability are relatively widespread."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2015.04.013"xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Fan C."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Peng J."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Shen Y."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Sharma A."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Wang Y."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Yang X."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Xia Y."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Yang F."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Yi S."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Berger B."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Vidal M."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Zhong Q."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Hill D.E."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Liu Y.Y."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Calderwood M.A."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Lindquist S."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Hao T."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Roth F.P."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Jacob Y."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Cusick M.E."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Walhout A.J.M."xsd:string |
| http://purl.uniprot.org/citations/25910212 | http://purl.uniprot.org/core/author | "Karras G.I."xsd:string |