{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:31:13Z","timestamp":1790695873483,"version":"4.1.0"},"reference-count":110,"publisher":"Elsevier BV","issue":"21","license":[{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Molecular Biology"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1016\/j.jmb.2013.07.012","type":"journal-article","created":{"date-parts":[[2013,7,15]],"date-time":"2013-07-15T12:02:46Z","timestamp":1373889766000},"page":"3949-3963","source":"Crossref","is-referenced-by-count":232,"title":["The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein\u2013Protein Interactions"],"prefix":"10.1016","volume":"425","author":[{"given":"Christopher M.","family":"Yates","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.E.","family":"Sternberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jmb.2013.07.012_bb0005","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"The 1000 Genomes Project Consortium","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.jmb.2013.07.012_bb0010","unstructured":"Exome Sequencing Project (ESP), Seattle, WA, N. Exome Variant Server. At http:\/\/evs.gs.washington.edu\/EVS\/."},{"key":"10.1016\/j.jmb.2013.07.012_bb0015","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1126\/science.1219240","article-title":"Evolution and functional impact of rare coding variation from deep sequencing of human exomes","volume":"337","author":"Tennessen","year":"2012","journal-title":"Science (New York, NY)"},{"key":"10.1016\/j.jmb.2013.07.012_bb0020","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1101\/gr.212802","article-title":"Accounting for human polymorphisms predicted to affect protein function","volume":"12","author":"Ng","year":"2002","journal-title":"Genome Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0025","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1002\/humu.21149","article-title":"dbSNP in the detail and copy number complexities","volume":"31","author":"Day","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.012_bb0030","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/ng1133","article-title":"Quality and completeness of SNP databases","volume":"33","author":"Reich","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.jmb.2013.07.012_bb0035","doi-asserted-by":"crossref","first-page":"e1002822","DOI":"10.1371\/journal.pcbi.1002822","article-title":"Chapter 11: genome-wide association studies","volume":"8","author":"Bush","year":"2012","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0040","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1126\/science.1186802","article-title":"Analysis of genetic inheritance in a family quartet by whole-genome sequencing","volume":"328","author":"Roach","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.jmb.2013.07.012_bb0045","doi-asserted-by":"crossref","first-page":"492","DOI":"10.7150\/ijms.8.492","article-title":"Translational medicine and reliability of single-nucleotide polymorphism studies: can we believe in SNP reports or not?","volume":"8","author":"Valachis","year":"2011","journal-title":"Int J Med Sci"},{"key":"10.1016\/j.jmb.2013.07.012_bb0050","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0055","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1093\/nar\/gkr407","article-title":"Predicting the functional impact of protein mutations: application to cancer genomics","volume":"39","author":"Reva","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0060","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1186\/1471-2105-12-151","article-title":"PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality","volume":"12","author":"Dehouck","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0065","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.jmb.2013.07.012_bb0070","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/humu.21445","article-title":"Performance of mutation pathogenicity prediction methods on missense variants","volume":"32","author":"Thusberg","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.012_bb0075","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/msb.2008.27","article-title":"Network-based global inference of human disease genes","volume":"4","author":"Wu","year":"2008","journal-title":"Mol Syst Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0080","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajhg.2008.02.013","article-title":"Walking the interactome for prioritization of candidate disease genes","volume":"82","author":"K\u00f6hler","year":"2008","journal-title":"J Hum Genet"},{"issue":"Suppl. 8","key":"10.1016\/j.jmb.2013.07.012_bb0085","doi-asserted-by":"crossref","first-page":"S6","DOI":"10.1186\/1471-2105-10-S8-S6","article-title":"From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways","volume":"10","author":"Bauer-Mehren","year":"2009","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0090","doi-asserted-by":"crossref","first-page":"e1000641","DOI":"10.1371\/journal.pcbi.1000641","article-title":"Associating genes and protein complexes with disease via network propagation","volume":"6","author":"Vanunu","year":"2010","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0095","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nrg2918","article-title":"Network medicine: a network-based approach to human disease","volume":"12","author":"Barab\u00e1si","year":"2011","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jmb.2013.07.012_bb0100","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/jmbi.1998.1843","article-title":"Anatomy of hot spots in protein interfaces","volume":"280","author":"Bogan","year":"1998","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0105","doi-asserted-by":"crossref","first-page":"22378","DOI":"10.1074\/jbc.M603826200","article-title":"Comprehensive and quantitative mapping of energy landscapes for protein\u2013protein interactions by rapid combinatorial scanning","volume":"281","author":"P\u00e1l","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.012_bb0110","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/1097-0134(20010101)42:1<108::AID-PROT110>3.0.CO;2-O","article-title":"Protein\u2013protein interfaces: analysis of amino acid conservation in homodimers","volume":"42","author":"Valdar","year":"2001","journal-title":"Proteins"},{"key":"10.1016\/j.jmb.2013.07.012_bb0115","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1093\/bioinformatics\/bts283","article-title":"Genome scale analysis of interaction dynamics reveals organization of biological networks","volume":"28","author":"Das","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0120","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1016\/j.str.2010.08.007","article-title":"Transient protein\u2013protein interactions: structural, functional, and network properties","volume":"18","author":"Perkins","year":"2010","journal-title":"Structure"},{"key":"10.1016\/j.jmb.2013.07.012_bb0125","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.jmb.2010.02.020","article-title":"The subunit interfaces of weakly associated homodimeric proteins","volume":"398","author":"Dey","year":"2010","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0130","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1017\/S0033583508004708","article-title":"Protein\u2013protein interaction and quaternary structure","volume":"41","author":"Janin","year":"2008","journal-title":"Q Rev Biophys"},{"key":"10.1016\/j.jmb.2013.07.012_bb0135","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.jmb.2006.07.087","article-title":"Analysis of molecular recognition features (MoRFs)","volume":"362","author":"Mohan","year":"2006","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0140","doi-asserted-by":"crossref","first-page":"D767","DOI":"10.1093\/nar\/gkn892","article-title":"Human Protein Reference Database\u20142009 update","volume":"37","author":"Keshava Prasad","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0145","doi-asserted-by":"crossref","first-page":"D841","DOI":"10.1093\/nar\/gkr1088","article-title":"The IntAct molecular interaction database in 2012","volume":"40","author":"Kerrien","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0150","doi-asserted-by":"crossref","first-page":"D816","DOI":"10.1093\/nar\/gks1158","article-title":"The BioGRID interaction database: 2013 update","volume":"41","author":"Chatr-Aryamontri","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0155","doi-asserted-by":"crossref","first-page":"W115","DOI":"10.1093\/nar\/gkp406","article-title":"VisANT 3.5: multi-scale network visualization, analysis and inference based on the gene ontology","volume":"37","author":"Hu","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0160","doi-asserted-by":"crossref","first-page":"D561","DOI":"10.1093\/nar\/gkq973","article-title":"The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored","volume":"39","author":"Szklarczyk","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0165","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1186\/1752-0509-6-92","article-title":"HINT: high-quality protein interactomes and their applications in understanding human disease","volume":"6","author":"Das","year":"2012","journal-title":"BMC Syst Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0170","doi-asserted-by":"crossref","first-page":"W519","DOI":"10.1093\/nar\/gkp306","article-title":"Protinfo PPC: a web server for atomic level prediction of protein complexes","volume":"37","author":"Kittichotirat","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0175","doi-asserted-by":"crossref","first-page":"W233","DOI":"10.1093\/nar\/gkn216","article-title":"The RosettaDock server for local protein\u2013protein docking","volume":"36","author":"Lyskov","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0180","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/prot.10111","article-title":"Welcome to CAPRI: A Critical Assessment of PRedicted Interactions","volume":"47","author":"Janin","year":"2002","journal-title":"Proteins Struct Funct Genet"},{"key":"10.1016\/j.jmb.2013.07.012_bb0185","doi-asserted-by":"crossref","first-page":"4569","DOI":"10.1073\/pnas.061034498","article-title":"A comprehensive two-hybrid analysis to explore the yeast protein interactome","volume":"98","author":"Ito","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.012_bb0190","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1038\/nmeth.2139","article-title":"Evaluating protein interactions through cross-linking mass spectrometry","volume":"9","author":"Tabb","year":"2012","journal-title":"Nat Methods"},{"key":"10.1016\/j.jmb.2013.07.012_bb0195","doi-asserted-by":"crossref","first-page":"D360","DOI":"10.1093\/nar\/gkn659","article-title":"PiSite: a database of protein interaction sites using multiple binding states in the PDB","volume":"37","author":"Higurashi","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0200","doi-asserted-by":"crossref","first-page":"D718","DOI":"10.1093\/nar\/gkq962","article-title":"3did: identification and classification of domain-based interactions of known three-dimensional structure","volume":"39","author":"Stein","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0205","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1093\/bioinformatics\/bti011","article-title":"iPfam: visualization of protein\u2013protein interactions in PDB at domain and amino acid resolutions","volume":"21","author":"Finn","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0210","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/nbt.2106","article-title":"Three-dimensional reconstruction of protein networks provides insight into human genetic disease","volume":"30","author":"Wang","year":"2012","journal-title":"Nat Biotechnol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0215","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/nmeth.2289","article-title":"Interactome3D: adding structural details to protein networks","volume":"10","author":"Mosca","year":"2012","journal-title":"Nat Methods"},{"key":"10.1016\/j.jmb.2013.07.012_bb0220","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1093\/bioinformatics\/btt181","article-title":"INstruct: a database of high-quality 3D structurally resolved protein interactome networks","volume":"29","author":"Meyer","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0225","doi-asserted-by":"crossref","first-page":"10538","DOI":"10.1073\/pnas.1101440108","article-title":"Structural principles within the human\u2013virus protein\u2013protein interaction network","volume":"108","author":"Franzosa","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.012_bb0230","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/prot.20842","article-title":"WHISCY: what information does surface conservation yield? Application to data-driven docking","volume":"489","author":"De Vries","year":"2006","journal-title":"Proteins"},{"key":"10.1016\/j.jmb.2013.07.012_bb0235","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.jmb.2004.02.040","article-title":"ProMate: a structure based prediction program to identify the location of protein\u2013protein binding sites","volume":"338","author":"Neuvirth","year":"2004","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0240","doi-asserted-by":"crossref","first-page":"D43","DOI":"10.1093\/nar\/gks1068","article-title":"Update on activities at the Universal Protein Resource (UniProt) in 2013","volume":"41","author":"The Uniprot Consortium","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0245","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/gm13","article-title":"The Human Gene Mutation Database: 2008 update","volume":"1","author":"Stenson","year":"2009","journal-title":"Genome Med"},{"key":"10.1016\/j.jmb.2013.07.012_bb0250","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.21466","article-title":"A new face and new challenges for Online Mendelian Inheritance in Man (OMIM\u00ae)","volume":"32","author":"Amberger","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.012_bb0255","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nprot.2009.2","article-title":"Protein structure prediction on the Web: a case study using the Phyre server","volume":"4","author":"Kelley","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1016\/j.jmb.2013.07.012_bb0260","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/humu.22","article-title":"SNPs, protein structure, and disease","volume":"17","author":"Wang","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.012_bb0265","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1016\/j.jmb.2005.12.025","article-title":"Identification and analysis of deleterious human SNPs","volume":"356","author":"Yue","year":"2006","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0270","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1186\/1471-2105-8-301","article-title":"Genome bioinformatic analysis of nonsynonymous SNPs","volume":"8","author":"Burke","year":"2007","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0275","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1002\/humu.21656","article-title":"Protein\u2013protein interaction sites are hot spots for disease-associated nonsynonymous SNPs","volume":"33","author":"David","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.012_bb0280","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1093\/molbev\/msp031","article-title":"Solvent exposure imparts similar selective pressures across a range of yeast proteins","volume":"26","author":"Conant","year":"2009","journal-title":"Mol Biol Evol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0285","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.jmb.2005.08.020","article-title":"Loss of protein structure stability as a major causative factor in monogenic disease","volume":"353","author":"Yue","year":"2005","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0290","first-page":"439","article-title":"Modeling and analyzing three-dimensional structures of human disease proteins","author":"Ye","year":"2006","journal-title":"Pacific Symp Biocomput"},{"key":"10.1016\/j.jmb.2013.07.012_bb0295","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1006\/jmbi.2001.5255","article-title":"Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties","volume":"315","author":"Ferrer-Costa","year":"2002","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0300","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1073\/pnas.93.1.13","article-title":"Principles of protein\u2013protein interactions","volume":"93","author":"Jones","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.012_bb0305","first-page":"575","article-title":"Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II\u2013and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable matur","volume":"49","author":"Indo","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmb.2013.07.012_bb0310","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1161\/01.CIR.0000066323.15244.54","article-title":"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy","volume":"107","author":"Richard","year":"2003","journal-title":"Circulation"},{"key":"10.1016\/j.jmb.2013.07.012_bb0315","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0320","doi-asserted-by":"crossref","first-page":"R9","DOI":"10.1186\/gb-2008-9-1-r9","article-title":"Protein interactions in human genetic diseases","volume":"9","author":"Schuster-B\u00f6ckler","year":"2008","journal-title":"Genome Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0325","doi-asserted-by":"crossref","first-page":"2600","DOI":"10.1093\/bioinformatics\/bts489","article-title":"SKEMPI: a structural kinetic and energetic database of mutant protein interactions and its use in empirical models","volume":"28","author":"Moal","year":"2012","journal-title":"Bioinformatics (Oxford, England)"},{"key":"10.1016\/j.jmb.2013.07.012_bb0330","doi-asserted-by":"crossref","first-page":"W382","DOI":"10.1093\/nar\/gki387","article-title":"The FoldX web server: an online force field","volume":"33","author":"Schymkowitz","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0335","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/S0022-2836(02)00442-4","article-title":"Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations","volume":"320","author":"Guerois","year":"2002","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0340","doi-asserted-by":"crossref","first-page":"2178","DOI":"10.1016\/j.bpj.2008.12.3904","article-title":"Modeling effects of human single nucleotide polymorphisms on protein\u2013protein interactions","volume":"96","author":"Teng","year":"2009","journal-title":"Biophys J"},{"key":"10.1016\/j.jmb.2013.07.012_bb0345","doi-asserted-by":"crossref","first-page":"e66273","DOI":"10.1371\/journal.pone.0066273","article-title":"Cancer missense mutations alter binding properties of proteins and their interaction networks","volume":"8","author":"Nishi","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.jmb.2013.07.012_bb0350","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1002\/humu.21310","article-title":"Computational analysis of missense mutations causing Snyder\u2013Robinson syndrome","volume":"31","author":"Zhang","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.012_bb0355","doi-asserted-by":"crossref","first-page":"1938","DOI":"10.1126\/science.1136174","article-title":"Relating three-dimensional structures to protein networks provides evolutionary insights","volume":"314","author":"Kim","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.jmb.2013.07.012_bb0360","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/msb.2009.80","article-title":"Edgetic perturbation models of human inherited disorders","volume":"5","author":"Zhong","year":"2009","journal-title":"Mol Syst Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0365","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1074\/mcp.M900273-MCP200","article-title":"PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation","volume":"9","author":"Ren","year":"2010","journal-title":"Mol Cell Proteomics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0370","doi-asserted-by":"crossref","first-page":"i241","DOI":"10.1093\/bioinformatics\/btn267","article-title":"Gain and loss of phosphorylation sites in human cancer","volume":"24","author":"Radivojac","year":"2008","journal-title":"Bioinformatics (Oxford, England)"},{"key":"10.1016\/j.jmb.2013.07.012_bb0375","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/msb.2012.68","article-title":"Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers","volume":"9","author":"Reimand","year":"2013","journal-title":"Mol Syst Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0380","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.gde.2007.04.008","article-title":"Gain-of-glycosylation mutations","volume":"17","author":"Vogt","year":"2007","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.jmb.2013.07.012_bb0385","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1038\/178792a0","article-title":"A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin","volume":"178","author":"Ingram","year":"1956","journal-title":"Nature"},{"key":"10.1016\/j.jmb.2013.07.012_bb0390","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0022-2836(75)80108-2","article-title":"Crystal structure of sickle-cell deoxyhemoglobin at 5\u00c5 resolution","volume":"98","author":"Wishner","year":"1975","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0395","doi-asserted-by":"crossref","first-page":"13560","DOI":"10.1021\/bi991021c","article-title":"The most pathogenic transthyretin variant, L55P, forms amyloid fibrils under acidic conditions and protofilaments under physiological conditions","volume":"38","author":"Lashuel","year":"1999","journal-title":"Biochemistry"},{"key":"10.1016\/j.jmb.2013.07.012_bb0400","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/pro.289","article-title":"Potentially amyloidogenic conformational intermediates populate the unfolding landscape of transthyretin: insights from molecular dynamics simulations","volume":"19","author":"Rodrigues","year":"2010","journal-title":"Protein Sci"},{"key":"10.1016\/j.jmb.2013.07.012_bb0405","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/BF00220559","article-title":"Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement","volume":"89","author":"Jacobson","year":"1992","journal-title":"Hum Genet"},{"key":"10.1016\/j.jmb.2013.07.012_bb0410","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1038\/nbt1012","article-title":"Prediction of sequence-dependent and mutational effects on the aggregation of peptides and proteins","volume":"22","author":"Fernandez-Escamilla","year":"2004","journal-title":"Nat Biotechnol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0415","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nmeth.1432","article-title":"Exploring the sequence determinants of amyloid structure using position-specific scoring matrices","volume":"7","author":"Maurer-Stroh","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.jmb.2013.07.012_bb0420","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1093\/nar\/gkr996","article-title":"SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants","volume":"40","author":"De Baets","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0425","first-page":"2138","article-title":"Gain-of-function mutations in the tumor suppressor gene gain-of-function mutations in the tumor suppressor gene p53","volume":"6","author":"Van Oijen","year":"2000","journal-title":"Clin Cancer Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0430","doi-asserted-by":"crossref","first-page":"e23021","DOI":"10.1371\/journal.pone.0023021","article-title":"Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations","volume":"6","author":"Fahim","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.jmb.2013.07.012_bb0435","article-title":"Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis","volume":"1","author":"Barbelanne","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jmb.2013.07.012_bb0440","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.pbiomolbio.2009.03.001","article-title":"The rules of disorder or why disorder rules","volume":"99","author":"Gsponer","year":"2009","journal-title":"Prog Biophys Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0445","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.pbiomolbio.2008.05.007","article-title":"Intrinsic disorder in scaffold proteins: getting more from less","volume":"98","author":"Cortese","year":"2008","journal-title":"Prog Biophys Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0450","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S0022-2836(02)00969-5","article-title":"Intrinsic disorder in cell-signaling and cancer-associated proteins","volume":"323","author":"Iakoucheva","year":"2002","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0455","doi-asserted-by":"crossref","first-page":"e1002709","DOI":"10.1371\/journal.pcbi.1002709","article-title":"Disease-associated mutations disrupt functionally important regions of intrinsic protein disorder","volume":"8","author":"Vacic","year":"2012","journal-title":"PLoS Comput Biol"},{"issue":"Suppl. 1","key":"10.1016\/j.jmb.2013.07.012_bb0460","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.1186\/1471-2164-10-S1-S7","article-title":"Unfoldomics of human diseases: linking protein intrinsic disorder with diseases","volume":"10","author":"Uversky","year":"2009","journal-title":"BMC Genomics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0465","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1111\/j.1742-4658.2009.07448.x","article-title":"Epidermal growth factor receptor in relation to tumor development: EGFR gene and cancer","volume":"277","author":"Mitsudomi","year":"2010","journal-title":"FEBS J"},{"key":"10.1016\/j.jmb.2013.07.012_bb0470","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ceb.2007.02.010","article-title":"Receptor tyrosine kinases: mechanisms of activation and signaling","volume":"19","author":"Hubbard","year":"2008","journal-title":"Curr Opin Cell Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0475","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1016\/j.cell.2012.02.063","article-title":"Oncogenic mutations counteract intrinsic disorder in the EGFR kinase and promote receptor dimerization","volume":"149","author":"Shan","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.jmb.2013.07.012_bb0480","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/1476-4598-10-101","article-title":"Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?","volume":"10","author":"Minde","year":"2011","journal-title":"Mol Cancer"},{"key":"10.1016\/j.jmb.2013.07.012_bb0485","doi-asserted-by":"crossref","first-page":"1833","DOI":"10.1021\/pr060674u","article-title":"Surface accessibility of protein post-translational modifications research articles","volume":"6","author":"Pang","year":"2007","journal-title":"J Proteome Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0490","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1126\/science.1195271","article-title":"The major genetic determinants of HIV-1 control affect HLA class I peptide presentation","volume":"330","author":"The International HIV Controllers Study","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.jmb.2013.07.012_bb0495","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1086\/315472","article-title":"Influence of HLA supertypes on susceptibility and resistance to human immunodeficiency virus type 1 infection","volume":"181","author":"MacDonald","year":"2000","journal-title":"J Infect Dis"},{"key":"10.1016\/j.jmb.2013.07.012_bb0500","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/pmic.200400962","article-title":"Peeling the yeast protein network","volume":"5","author":"Wuchty","year":"2005","journal-title":"Proteomics"},{"key":"10.1016\/j.jmb.2013.07.012_bb0505","doi-asserted-by":"crossref","first-page":"e59","DOI":"10.1371\/journal.pcbi.0030059","article-title":"The importance of bottlenecks in protein networks: correlation with gene essentiality and expression dynamics","volume":"3","author":"Yu","year":"2007","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0510","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/1752-0509-4-78","article-title":"Network properties of human disease genes with pleiotropic effects","volume":"4","author":"Chavali","year":"2010","journal-title":"BMC Syst Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0515","doi-asserted-by":"crossref","first-page":"8685","DOI":"10.1073\/pnas.0701361104","article-title":"The human disease network","volume":"104","author":"Goh","year":"2007","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.jmb.2013.07.012_bb0520","first-page":"1","article-title":"Proteins and domains vary in their tolerance of non-synonymous single nucleotide polymorphisms (nsSNPs)","author":"Yates","year":"2013","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.012_bb0525","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0530","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","article-title":"Human non-synonymous SNPs: server and survey","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.012_bb0535","doi-asserted-by":"crossref","first-page":"e1003143","DOI":"10.1371\/journal.pgen.1003143","article-title":"Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies","volume":"9","author":"Li","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jmb.2013.07.012_bb0540","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1126\/science.8023157","article-title":"Crystal structure of a p53 tumor suppressor\u2013DNA complex: understanding tumorigenic mutations","volume":"265","author":"Cho","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.jmb.2013.07.012_bb0545","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1093\/hmg\/6.2.311","article-title":"Identification of structural mutations in the fifth domain of apolipoprotein H (beta 2-glycoprotein I) which affect phospholipid binding","volume":"6","author":"Sanghera","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jmb.2013.07.012_bb0550","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/j.jmb.2005.05.014","article-title":"Crystal structure of human dihydrolipoamide dehydrogenase: NAD+\/NADH binding and the structural basis of disease-causing mutations","volume":"350","author":"Brautigam","year":"2005","journal-title":"J Mol Biol"}],"container-title":["Journal of Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022283613004440?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022283613004440?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,14]],"date-time":"2018-10-14T11:29:21Z","timestamp":1539516561000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022283613004440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":110,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S0022283613004440"],"URL":"https:\/\/doi.org\/10.1016\/j.jmb.2013.07.012","relation":{},"ISSN":["0022-2836"],"issn-type":[{"value":"0022-2836","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]}}}