{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:48:35Z","timestamp":1792007315317,"version":"4.4.0"},"reference-count":194,"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.2013.07.014","type":"journal-article","created":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T13:45:14Z","timestamp":1373982314000},"page":"3919-3936","source":"Crossref","is-referenced-by-count":338,"title":["Molecular Mechanisms of Disease-Causing Missense Mutations"],"prefix":"10.1016","volume":"425","author":[{"given":"Shannon","family":"Stefl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hafumi","family":"Nishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marharyta","family":"Petukh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna R.","family":"Panchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emil","family":"Alexov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jmb.2013.07.014_bb0005","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1101\/gr.8.7.748","article-title":"Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms","volume":"8","author":"Taillon-Miller","year":"1998","journal-title":"Genome Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0010","doi-asserted-by":"crossref","first-page":"D935","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":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0015","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.tig.2004.06.010","article-title":"Eye colour: portals into pigmentation genes and ancestry","volume":"20","author":"Sturm","year":"2004","journal-title":"Trends Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0020","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1093\/bioinformatics\/btr295","article-title":"Bioinformatics challenges for personalized medicine","volume":"27","author":"Fernald","year":"2011","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0025","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1093\/bib\/6.1.44","article-title":"Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis","volume":"6","author":"Mooney","year":"2005","journal-title":"Brief Bioinform"},{"key":"10.1016\/j.jmb.2013.07.014_bb0030","doi-asserted-by":"crossref","first-page":"2729","DOI":"10.1093\/bioinformatics\/btl423","article-title":"Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information","volume":"22","author":"Capriotti","year":"2006","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0035","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1126\/science.278.5343.1580","article-title":"Variations on a theme: cataloging human DNA sequence variation","volume":"278","author":"Collins","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.jmb.2013.07.014_bb0040","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.2013.07.014_bb0045","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.cell.2011.09.011","article-title":"Mapping rare and common causal alleles for complex human diseases","volume":"147","author":"Raychaudhuri","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.jmb.2013.07.014_bb0050","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.gde.2009.04.010","article-title":"Common vs. rare allele hypotheses for complex diseases","volume":"19","author":"Schork","year":"2009","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.jmb.2013.07.014_bb0055","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1086\/321272","article-title":"Are rare variants responsible for susceptibility to complex diseases?","volume":"69","author":"Pritchard","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0060","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1126\/science.1099870","article-title":"Multiple rare alleles contribute to low plasma levels of HDL cholesterol","volume":"305","author":"Cohen","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.jmb.2013.07.014_bb0065","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1073\/pnas.0508483103","article-title":"Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels","volume":"103","author":"Cohen","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.014_bb0070","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1126\/science.1217876","article-title":"An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people","volume":"337","author":"Nelson","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.jmb.2013.07.014_bb0075","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"},{"key":"10.1016\/j.jmb.2013.07.014_bb0080","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/ng.f.136","article-title":"Common and rare variants in multifactorial susceptibility to common diseases","volume":"40","author":"Bodmer","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0085","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/nrg3241","article-title":"De novo mutations in human genetic disease","volume":"13","author":"Veltman","year":"2012","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0090","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ng.646","article-title":"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome","volume":"42","author":"Ng","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0095","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1093\/protein\/gzm084","article-title":"Physicochemical feature-based classification of amino acid mutations","volume":"21","author":"Shen","year":"2008","journal-title":"Protein Eng Des Sel"},{"key":"10.1016\/j.jmb.2013.07.014_bb0100","doi-asserted-by":"crossref","first-page":"8424","DOI":"10.1073\/pnas.1431692100","article-title":"Understanding the function\u2013structure and function\u2013mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis","volume":"100","author":"Kato","year":"2003","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.jmb.2013.07.014_bb0105","doi-asserted-by":"crossref","first-page":"123","DOI":"10.2174\/138920108783955164","article-title":"Approaches and resources for prediction of the effects of non-synonymous single nucleotide polymorphism on protein function and interactions","volume":"9","author":"Teng","year":"2008","journal-title":"Curr Pharm Biotechnol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0110","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1155\/2012\/805827","article-title":"Analyzing effects of naturally occurring missense mutations","volume":"2012","author":"Zhang","year":"2012","journal-title":"Comput Math Methods Med"},{"key":"10.1016\/j.jmb.2013.07.014_bb0115","doi-asserted-by":"crossref","first-page":"16858","DOI":"10.1073\/pnas.1209751109","article-title":"A fundamental protein property, thermodynamic stability, revealed solely from large-scale measurements of protein function","volume":"109","author":"Araya","year":"2012","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.jmb.2013.07.014_bb0120","doi-asserted-by":"crossref","first-page":"2699","DOI":"10.1002\/prot.22786","article-title":"On the pH-optimum of activity and stability of proteins","volume":"78","author":"Talley","year":"2010","journal-title":"Proteins"},{"key":"10.1016\/j.jmb.2013.07.014_bb0125","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1093\/bioinformatics\/bts005","article-title":"Predicting folding free energy changes upon single point mutations","volume":"28","author":"Zhang","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0130","doi-asserted-by":"crossref","first-page":"W215","DOI":"10.1093\/nar\/gkr363","article-title":"SDM\u2014a server for predicting effects of mutations on protein stability and malfunction","volume":"39","author":"Worth","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0135","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1093\/protein\/gzn063","article-title":"Robust prediction of mutation-induced protein stability change by property encoding of amino acids","volume":"22","author":"Kang","year":"2009","journal-title":"Protein Eng Des Sel"},{"key":"10.1016\/j.jmb.2013.07.014_bb0140","doi-asserted-by":"crossref","first-page":"2335","DOI":"10.1093\/hmg\/ddt079","article-title":"Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling","volume":"22","author":"Zwerger","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0145","doi-asserted-by":"crossref","first-page":"6317","DOI":"10.1074\/jbc.M112.422618","article-title":"Mechanisms by which von Willebrand disease mutations destabilize the A2 domain","volume":"288","author":"Xu","year":"2013","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0150","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1016\/j.jmb.2010.11.003","article-title":"Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations","volume":"405","author":"Rakoczy","year":"2011","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0155","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1002\/pro.2265","article-title":"Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients","volume":"22","author":"An","year":"2013","journal-title":"Protein Sci"},{"key":"10.1016\/j.jmb.2013.07.014_bb0160","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1086\/318796","article-title":"Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis","volume":"68","author":"Goransdotter Ericson","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0165","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1126\/science.1675487","article-title":"Molecular biology of prion diseases","volume":"252","author":"Prusiner","year":"1991","journal-title":"Science"},{"key":"10.1016\/j.jmb.2013.07.014_bb0170","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1146\/annurev.neuro.24.1.519","article-title":"Prion diseases of humans and animals: their causes and molecular basis","volume":"24","author":"Collinge","year":"2001","journal-title":"Annu Rev Neurosci"},{"key":"10.1016\/j.jmb.2013.07.014_bb0175","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/bpa.12045","article-title":"Prion disease: a tale of folds and strains","volume":"23","author":"Kretzschmar","year":"2013","journal-title":"Brain Pathol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0180","doi-asserted-by":"crossref","first-page":"e54982","DOI":"10.1371\/journal.pone.0054982","article-title":"Nanopore analysis of wild-type and mutant prion protein (PrP(C)): single molecule discrimination and PrP(C) kinetics","volume":"8","author":"Jetha","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.jmb.2013.07.014_bb0185","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/j.1471-4159.2008.05398.x","article-title":"Characterization of PINK1 processing, stability, and subcellular localization","volume":"106","author":"Lin","year":"2008","journal-title":"J Neurochem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0190","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1002\/humu.21277","article-title":"Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update","volume":"31","author":"Nuytemans","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.014_bb0195","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/emmm.200900006","article-title":"Parkinson's disease mutations in PINK1 result in decreased complex I activity and deficient synaptic function","volume":"1","author":"Morais","year":"2009","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.jmb.2013.07.014_bb0200","doi-asserted-by":"crossref","first-page":"16522","DOI":"10.1073\/pnas.0705197104","article-title":"Familial Alzheimer's disease mutations alter the stability of the amyloid beta-protein monomer folding nucleus","volume":"104","author":"Grant","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.014_bb0205","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/1476-4598-10-54","article-title":"The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors","volume":"10","author":"Stehr","year":"2011","journal-title":"Mol Cancer"},{"key":"10.1016\/j.jmb.2013.07.014_bb0210","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.jmb.2011.06.046","article-title":"Structural and functional impact of cancer-related missense somatic mutations","volume":"413","author":"Shi","year":"2011","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0215","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1002\/prot.23065","article-title":"A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics","volume":"79","author":"Witham","year":"2011","journal-title":"Proteins"},{"key":"10.1016\/j.jmb.2013.07.014_bb0220","doi-asserted-by":"crossref","first-page":"4497","DOI":"10.1093\/hmg\/dds292","article-title":"An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity","volume":"21","author":"Takano","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0225","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1021\/bi992091m","article-title":"Rational modification of protein stability by the mutation of charged surface residues\u2020","volume":"39","author":"Spector","year":"2000","journal-title":"Biochemistry"},{"key":"10.1016\/j.jmb.2013.07.014_bb0230","doi-asserted-by":"crossref","first-page":"e20373","DOI":"10.1371\/journal.pone.0020373","article-title":"In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase","volume":"6","author":"Zhang","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.jmb.2013.07.014_bb0235","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.2013.07.014_bb0240","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.2013.07.014_bb0245","doi-asserted-by":"crossref","first-page":"805827","DOI":"10.1155\/2012\/805827","article-title":"Analyzing effects of naturally occurring missense mutations","volume":"2012","author":"Zhang","year":"2012","journal-title":"Comput Math Methods Med"},{"key":"10.1016\/j.jmb.2013.07.014_bb0830","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddt229","article-title":"A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome","author":"Zhang","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0250","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1186\/1471-2164-11-S2-S5","article-title":"Sequence feature-based prediction of protein stability changes upon amino acid substitutions","volume":"11","author":"Teng","year":"2010","journal-title":"BMC Genomics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0255","doi-asserted-by":"crossref","first-page":"W306","DOI":"10.1093\/nar\/gki375","article-title":"I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure","volume":"33","author":"Capriotti","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0260","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/prot.20810","article-title":"Prediction of protein stability changes for single-site mutations using support vector machines","volume":"62","author":"Cheng","year":"2006","journal-title":"Proteins Struct Funct Bioinf"},{"key":"10.1016\/j.jmb.2013.07.014_bb0265","doi-asserted-by":"crossref","first-page":"2537","DOI":"10.1093\/bioinformatics\/btp445","article-title":"Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0","volume":"25","author":"Dehouck","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0270","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.2013.07.014_bb0275","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.2013.07.014_bb0280","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.2013.07.014_bb0285","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.jbiotec.2012.06.020","article-title":"Structure-based mutant stability predictions on proteins of unknown structure","volume":"161","author":"Gonnelli","year":"2012","journal-title":"J Biotechnol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0290","doi-asserted-by":"crossref","first-page":"W239","DOI":"10.1093\/nar\/gkl190","article-title":"CUPSAT: prediction of protein stability upon point mutations","volume":"34","author":"Parthiban","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0295","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.2013.07.014_bb0300","doi-asserted-by":"crossref","first-page":"e85","DOI":"10.1371\/journal.pcbi.0020085","article-title":"Emergence of protein fold families through rational design","volume":"2","author":"Ding","year":"2006","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0305","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1093\/bioinformatics\/btp528","article-title":"Automated inference of molecular mechanisms of disease from amino acid substitutions","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0310","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/nmeth0109-3","article-title":"Predicting free energy changes using structural ensembles","volume":"6","author":"Benedix","year":"2009","journal-title":"Nat Methods"},{"key":"10.1016\/j.jmb.2013.07.014_bb0315","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/(SICI)1097-0134(199710)29:2<240::AID-PROT11>3.0.CO;2-O","article-title":"Prediction of protein conformational freedom from distance constraints","volume":"29","author":"de Groot","year":"1997","journal-title":"Proteins"},{"key":"10.1016\/j.jmb.2013.07.014_bb0320","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/2046-1682-5-9","article-title":"DelPhi: a comprehensive suite for DelPhi software and associated resources","volume":"5","author":"Li","year":"2012","journal-title":"BMC Biophys"},{"key":"10.1016\/j.jmb.2013.07.014_bb0325","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases: an e-Science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinf"},{"key":"10.1016\/j.jmb.2013.07.014_bb0330","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/humu.21242","article-title":"Performance of protein stability predictors","volume":"31","author":"Khan","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.014_bb0335","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1093\/bioinformatics\/btn353","article-title":"Accurate prediction of stability changes in protein mutants by combining machine learning with structure based computational mutagenesis","volume":"24","author":"Masso","year":"2008","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0340","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1093\/protein\/gzp030","article-title":"Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details","volume":"22","author":"Potapov","year":"2009","journal-title":"Protein Eng Des Sel"},{"key":"10.1016\/j.jmb.2013.07.014_bb0345","doi-asserted-by":"crossref","first-page":"e46084","DOI":"10.1371\/journal.pone.0046084","article-title":"Assessing predictors of changes in protein stability upon mutation using self-consistency","volume":"7","author":"Thiltgen","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.jmb.2013.07.014_bb0350","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1186\/1471-2164-13-S4-S2","article-title":"How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis","volume":"13","author":"Vihinen","year":"2012","journal-title":"BMC Genomics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0355","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.2013.07.014_bb0360","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1110\/ps.0217002","article-title":"Distance-scaled, finite ideal-gas reference state improves structure-derived potentials of mean force for structure selection and stability prediction","volume":"11","author":"Zhou","year":"2002","journal-title":"Protein Sci"},{"key":"10.1016\/j.jmb.2013.07.014_bb0365","doi-asserted-by":"crossref","first-page":"3009","DOI":"10.1093\/bioinformatics\/btm481","article-title":"Four-body scoring function for mutagenesis","volume":"23","author":"Deutsch","year":"2007","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0370","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1093\/bioinformatics\/btg110","article-title":"SCide: identification of stabilization centers in proteins","volume":"19","author":"Dosztanyi","year":"2003","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0375","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1186\/1471-2105-9-226","article-title":"SCPRED: accurate prediction of protein structural class for sequences of twilight-zone similarity with predicting sequences","volume":"9","author":"Kurgan","year":"2008","journal-title":"BMC Bioinf"},{"key":"10.1016\/j.jmb.2013.07.014_bb0380","doi-asserted-by":"crossref","first-page":"W303","DOI":"10.1093\/nar\/gki409","article-title":"SRide: a server for identifying stabilizing residues in proteins","volume":"33","author":"Magyar","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0385","doi-asserted-by":"crossref","first-page":"W480","DOI":"10.1093\/nar\/gki372","article-title":"nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms","volume":"33","author":"Bao","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0390","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1101\/gr.772403","article-title":"PANTHER: a library of protein families and subfamilies indexed by function","volume":"13","author":"Thomas","year":"2003","journal-title":"Genome Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0395","doi-asserted-by":"crossref","first-page":"3823","DOI":"10.1093\/nar\/gkm238","article-title":"SNAP: predict effect of non-synonymous polymorphisms on function","volume":"35","author":"Bromberg","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0400","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1002\/humu.21047","article-title":"Functional annotations improve the predictive score of human disease-related mutations in proteins","volume":"30","author":"Calabrese","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.014_bb0405","doi-asserted-by":"crossref","first-page":"490","DOI":"10.2174\/138920311796957630","article-title":"Machine learning algorithms for predicting protein folding rates and stability of mutant proteins: comparison with statistical methods","volume":"12","author":"Gromiha","year":"2011","journal-title":"Curr Protein Pept Sci"},{"key":"10.1016\/j.jmb.2013.07.014_bb0410","doi-asserted-by":"crossref","first-page":"1562","DOI":"10.1101\/gr.091991.109","article-title":"Positional conservation and amino acids shape the correct diagnosis and population frequencies of benign and damaging personal amino acid mutations","volume":"19","author":"Kumar","year":"2009","journal-title":"Genome Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0415","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/nchem.1396","article-title":"Key stabilizing elements of protein structure identified through pressure and temperature perturbation of its hydrogen bond network","volume":"4","author":"Nisius","year":"2012","journal-title":"Nat Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0420","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1042\/BST0370727","article-title":"Structural and functional restraints in the evolution of protein families and superfamilies","volume":"37","author":"Gong","year":"2009","journal-title":"Biochem Soc Trans"},{"key":"10.1016\/j.jmb.2013.07.014_bb0425","doi-asserted-by":"crossref","first-page":"41576","DOI":"10.1074\/jbc.R112.418574","article-title":"Carbon-oxygen hydrogen bonding in biological structure and function","volume":"287","author":"Horowitz","year":"2012","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0835","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.gene.2012.12.070","article-title":"Identification and analysis of a novel mutation in PEPD gene in two Kashmiri siblings with prolidase enzyme deficiency","volume":"516","author":"Pandit","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.jmb.2013.07.014_bb0430","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.ymgme.2010.04.016","article-title":"Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: functional characterization and structural analyses","volume":"100","author":"Nguyen","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jmb.2013.07.014_bb0435","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/8904_2011_94","article-title":"A novel mutation in CPT1A resulting in hepatic CPT deficiency","volume":"6","author":"Fontaine","year":"2012","journal-title":"JIMD Rep"},{"key":"10.1016\/j.jmb.2013.07.014_bb0445","doi-asserted-by":"crossref","first-page":"23920","DOI":"10.1074\/jbc.M110.211821","article-title":"Molecular basis for the reduced catalytic activity of the naturally occurring T560M mutant of human 12\/15-lipoxygenase that has been implicated in coronary artery disease","volume":"286","author":"Schurmann","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0450","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.bbadis.2012.11.005","article-title":"Increasing betaB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R","volume":"1832","author":"Wang","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jmb.2013.07.014_bb0840","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1002\/cbic.201200704","article-title":"Carnosine inhibits Abeta42 aggregation by perturbing the H-bond network in and around the central hydrophobic cluster","volume":"14","author":"Attanasio","year":"2013","journal-title":"ChemBioChem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0845","doi-asserted-by":"crossref","first-page":"6041","DOI":"10.1021\/jp808384x","article-title":"Amyloid beta-protein: experiment and theory on the 21\u201330 fragment","volume":"113","author":"Murray","year":"2009","journal-title":"J Phys Chem B"},{"key":"10.1016\/j.jmb.2013.07.014_bb0850","doi-asserted-by":"crossref","first-page":"5","DOI":"10.3109\/13506129.2012.666510","article-title":"Quaternary structure, aggregation and cytotoxicity of transthyretin","volume":"19","author":"Mizuguchi","year":"2012","journal-title":"Amyloid"},{"key":"10.1016\/j.jmb.2013.07.014_bb0625","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.gene.2012.04.032","article-title":"Computational investigation of pathogenic nsSNPs in CEP63 protein","volume":"503","author":"Kumar","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.jmb.2013.07.014_bb0855","doi-asserted-by":"crossref","first-page":"4242","DOI":"10.1074\/jbc.M511110200","article-title":"Analyses of variant acid \u03b2-glucosidases: effects of gaucher disease mutations","volume":"281","author":"Liou","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0860","doi-asserted-by":"crossref","first-page":"17188","DOI":"10.1074\/jbc.M109.096354","article-title":"The catecholaminergic polymorphic ventricular tachycardia mutation R33Q disrupts the N-terminal structural motif that regulates reversible calsequestrin polymerization","volume":"285","author":"Bal","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0865","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.mrfmmm.2012.08.005","article-title":"Computational screening and molecular dynamics simulation of disease associated nsSNPs in CENP-E","volume":"738\u2013739","author":"Kumar","year":"2012","journal-title":"Mutat Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0870","first-page":"5952","article-title":"Altered subcellular localization and low frequency of mutations of ING1 in human brain tumors","volume":"9","author":"Vieyra","year":"2003","journal-title":"Clin Cancer Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0875","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1097\/01.LAB.0000050960.48774.17","article-title":"Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations","volume":"83","author":"Kunishima","year":"2003","journal-title":"Lab Invest"},{"key":"10.1016\/j.jmb.2013.07.014_bb0880","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.jsb.2011.12.022","article-title":"Hydrogen-bond network and pH sensitivity in transthyretin: neutron crystal structure of human transthyretin","volume":"177","author":"Yokoyama","year":"2012","journal-title":"J Struct Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0885","doi-asserted-by":"crossref","first-page":"6356","DOI":"10.1021\/bi2006702","article-title":"Self-association and stability of the ApoE isoforms at low pH: implications for ApoE-lipid interactions","volume":"50","author":"Garai","year":"2011","journal-title":"Biochemistry"},{"key":"10.1016\/j.jmb.2013.07.014_bb0890","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.ymgme.2011.08.008","article-title":"Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein","volume":"104","author":"Imbard","year":"2011","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jmb.2013.07.014_bb0895","doi-asserted-by":"crossref","first-page":"6360","DOI":"10.1021\/bi300421z","article-title":"Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine beta-synthase","volume":"51","author":"Smith","year":"2012","journal-title":"Biochemistry"},{"key":"10.1016\/j.jmb.2013.07.014_bb0900","doi-asserted-by":"crossref","first-page":"e32479","DOI":"10.1371\/journal.pone.0032479","article-title":"Mechanisms of loss of functions of human angiogenin variants implicated in amyotrophic lateral sclerosis","volume":"7","author":"Padhi","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.jmb.2013.07.014_bb0905","doi-asserted-by":"crossref","first-page":"30949","DOI":"10.1074\/jbc.M109.038372","article-title":"Molecular basis of reduced pyridoxine 5\u2032-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder","volume":"284","author":"Musayev","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0440","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1002\/humu.21310","article-title":"Computational analysis of missense mutations causing Snyder-Robinson syndrome","volume":"31","author":"Zhang","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.014_bb0455","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/B978-0-12-386483-3.00002-1","article-title":"Protein aggregation in a membrane environment","volume":"84","author":"Gorbenko","year":"2011","journal-title":"Adv Protein Chem Struct Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0460","doi-asserted-by":"crossref","first-page":"3205","DOI":"10.2174\/138161208786404146","article-title":"Structure, formation and propagation of amyloid fibrils","volume":"14","author":"Goto","year":"2008","journal-title":"Curr Pharm Des"},{"key":"10.1016\/j.jmb.2013.07.014_bb0465","doi-asserted-by":"crossref","first-page":"573","DOI":"10.2174\/138920307783018703","article-title":"Molecular mechanisms of polypeptide aggregation in human diseases","volume":"8","author":"Khare","year":"2007","journal-title":"Curr Protein Pept Sci"},{"key":"10.1016\/j.jmb.2013.07.014_bb0470","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/s12013-011-9200-x","article-title":"Defective protein folding and aggregation as the basis of neurodegenerative diseases: the darker aspect of proteins","volume":"61","author":"Naeem","year":"2011","journal-title":"Cell Biochem Biophys"},{"key":"10.1016\/j.jmb.2013.07.014_bb0475","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1107\/S0907444909054535","article-title":"Accommodation of structural rearrangements in the huntingtin-interacting protein 1 coiled-coil domain","volume":"66","author":"Wilbur","year":"2010","journal-title":"Acta Crystallogr Sect D Biol Crystallogr"},{"key":"10.1016\/j.jmb.2013.07.014_bb0480","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1021\/bi802254x","article-title":"Structural and functional consequences of the substitution of glycine 65 with arginine in the N-lobe of human transferrin","volume":"48","author":"Mason","year":"2009","journal-title":"Biochemistry"},{"key":"10.1016\/j.jmb.2013.07.014_bb0485","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1186\/jbiol199","article-title":"Adaptations of proteins to cellular and subcellular pH","volume":"8","author":"Garcia-Moreno","year":"2009","journal-title":"J Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0490","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1002\/prot.22931","article-title":"In silico modeling of pH-optimum of protein\u2013protein binding","volume":"79","author":"Mitra","year":"2011","journal-title":"Proteins"},{"key":"10.1016\/j.jmb.2013.07.014_bb0495","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/1741-7007-7-69","article-title":"Evidence for the adaptation of protein pH-dependence to subcellular pH","volume":"7","author":"Chan","year":"2009","journal-title":"BMC Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0500","doi-asserted-by":"crossref","first-page":"38524","DOI":"10.1074\/jbc.M110.172072","article-title":"Two independent histidines, one in human prolactin and one in its receptor, are critical for pH-dependent receptor recognition and activation","volume":"285","author":"Kulkarni","year":"2010","journal-title":"J Biol Chem"},{"issue":"1","key":"10.1016\/j.jmb.2013.07.014_bb0505","doi-asserted-by":"crossref","first-page":"207","DOI":"10.4208\/cicp.170911.131011s","article-title":"In silico investigation of pH-dependence of prolactin and human growth hormone binding to human prolactin receptor","volume":"13","author":"Wang","year":"2013","journal-title":"Commun. Comput. Phys."},{"key":"10.1016\/j.jmb.2013.07.014_bb0510","doi-asserted-by":"crossref","first-page":"14490","DOI":"10.1073\/pnas.1003072107","article-title":"KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function","volume":"107","author":"Reichold","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.014_bb0515","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1093\/brain\/123.5.1001","article-title":"Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A","volume":"123","author":"Hanemann","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.jmb.2013.07.014_bb0520","doi-asserted-by":"crossref","first-page":"4182","DOI":"10.2174\/1381612811319230004","article-title":"The role of protonation states in ligand-receptor recognition and binding","volume":"19","author":"Petukh","year":"2012","journal-title":"Curr Pharm Des"},{"key":"10.1016\/j.jmb.2013.07.014_bb0525","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1177\/109434209601000401","article-title":"NAMD: a parallel, object-oriented molecular dynamics program","volume":"10","author":"Nelson","year":"1996","journal-title":"Int J Supercomp Applic High Perf Comp"},{"key":"10.1016\/j.jmb.2013.07.014_bb0530","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/jcc.540040211","article-title":"CHARMM: a program for macromolecular energy, minimization, and dynamics calculations","volume":"4","author":"Brooks","year":"1983","journal-title":"J Comput Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0535","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1002\/jcc.20290","article-title":"The Amber biomolecular simulation programs","volume":"26","author":"Case","year":"2005","journal-title":"J Comput Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0540","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1002\/jcc.20303","article-title":"The GROMOS software for biomolecular simulation: GROMOS05","volume":"26","author":"Christen","year":"2005","journal-title":"J Comput Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0545","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/0010-4655(95)00042-E","article-title":"GROMACS: a message-passing parallel molecular dynamics implementation","volume":"91","author":"Berendsen","year":"1995","journal-title":"Comput Phys Commun"},{"key":"10.1016\/j.jmb.2013.07.014_bb0550","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1006\/jmbi.1998.2401","article-title":"Asparagine and glutamine: using hydrogen atom contacts in the choice of side-chain amide orientation","volume":"285","author":"Word","year":"1999","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0555","doi-asserted-by":"crossref","first-page":"W522","DOI":"10.1093\/nar\/gkm276","article-title":"PDB2PQR: expanding and upgrading automated preparation of biomolecular structures for molecular simulations","volume":"35","author":"Dolinsky","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0560","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.jmgm.2011.07.008","article-title":"HBonanza: a computer algorithm for molecular-dynamics-trajectory hydrogen-bond analysis","volume":"31","author":"Durrant","year":"2011","journal-title":"J Mol Graphics Modell"},{"key":"10.1016\/j.jmb.2013.07.014_bb0565","doi-asserted-by":"crossref","first-page":"52","DOI":"10.3109\/17453058809051356","article-title":"A routine method for the quantification of physical change in melanocytic naevi using digital image processing","volume":"11","author":"Murray","year":"1988","journal-title":"J Audiov Media Med"},{"key":"10.1016\/j.jmb.2013.07.014_bb0570","doi-asserted-by":"crossref","first-page":"1731","DOI":"10.1016\/S0006-3495(02)73940-4","article-title":"Combining conformational flexibility and continuum electrostatics for calculating pK(a)s in proteins","volume":"83","author":"Georgescu","year":"2002","journal-title":"Biophys J"},{"key":"10.1016\/j.jmb.2013.07.014_bb0575","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/prot.20660","article-title":"Very fast empirical prediction and rationalization of protein pKa values","volume":"61","author":"Li","year":"2005","journal-title":"Proteins"},{"key":"10.1016\/j.jmb.2013.07.014_bb0580","doi-asserted-by":"crossref","first-page":"W368","DOI":"10.1093\/nar\/gki464","article-title":"H++: a server for estimating pKas and adding missing hydrogens to macromolecules","volume":"33","author":"Gordon","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0585","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1017\/S0033583510000156","article-title":"Structure and function of eukaryotic fatty acid synthases","volume":"43","author":"Maier","year":"2010","journal-title":"Q Rev Biophys"},{"key":"10.1016\/j.jmb.2013.07.014_bb0590","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.sbi.2009.10.002","article-title":"Macromolecular micromovements: how RNA polymerase translocates","volume":"19","author":"Svetlov","year":"2009","journal-title":"Curr Opin Struct Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0595","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/B978-0-12-398312-1.00007-X","article-title":"Protein flexibility and enzymatic catalysis","volume":"87","author":"Kokkinidis","year":"2012","journal-title":"Adv Protein Chem Struct Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0600","doi-asserted-by":"crossref","first-page":"491","DOI":"10.2174\/0929867043455936","article-title":"Promiscuous beta-strand interactions and the conformational diseases","volume":"11","author":"Chow","year":"2004","journal-title":"Curr Med Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0605","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.bbapap.2012.12.003","article-title":"Utilization of protein intrinsic disorder knowledge in structural proteomics","volume":"1834","author":"Oldfield","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jmb.2013.07.014_bb0610","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1080\/07391102.2012.675145","article-title":"Orderly order in protein intrinsic disorder distribution: disorder in 3500 proteomes from viruses and the three domains of life","volume":"30","author":"Xue","year":"2012","journal-title":"J Biomol Struct Dyn"},{"key":"10.1016\/j.jmb.2013.07.014_bb0615","article-title":"Mutations in DNA-binding loop of NFAT5 transcription factor produce unique outcomes on protein\u2013DNA binding and dynamics","author":"Li","year":"2013","journal-title":"J Phys Chem B"},{"key":"10.1016\/j.jmb.2013.07.014_bb0620","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1002\/jcc.540080710","article-title":"TINKER molecular modeling package","volume":"8","author":"Ponder","year":"1987","journal-title":"J Comput Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0630","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s12013-012-9472-9","article-title":"A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene","volume":"66","author":"George Priya Doss","year":"2012","journal-title":"Cell Biochem Biophys"},{"key":"10.1016\/j.jmb.2013.07.014_bb0910","doi-asserted-by":"crossref","first-page":"4473","DOI":"10.1021\/bi3003007","article-title":"Structural and functional consequences of the cardiac troponin C L48Q Ca(2+)-sensitizing mutation","volume":"51","author":"Wang","year":"2012","journal-title":"Biochemistry"},{"key":"10.1016\/j.jmb.2013.07.014_bb0635","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.str.2012.01.012","article-title":"Structural dynamics associated with intermediate formation in an archetypal conformational disease","volume":"20","author":"Nyon","year":"2012","journal-title":"Structure"},{"key":"10.1016\/j.jmb.2013.07.014_bb0640","doi-asserted-by":"crossref","first-page":"11731","DOI":"10.1074\/jbc.M113.459768","article-title":"Quantitative structural insight into human variegate porphyria disease","volume":"17","author":"Wang","year":"2013","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0915","first-page":"55","article-title":"Evidence of colorectal cancer-associated mutation in MCAK: a computational report","volume":"1","author":"Kumar","year":"2013","journal-title":"Cell Biochem Biophys"},{"key":"10.1016\/j.jmb.2013.07.014_bb0920","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1002\/humu.22093","article-title":"Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene","volume":"33","author":"Tang","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.014_bb0925","doi-asserted-by":"crossref","first-page":"18153","DOI":"10.1074\/jbc.M111.284521","article-title":"Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy","volume":"287","author":"Acsadi","year":"2012","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0655","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.2013.07.014_bb0930","series-title":"eLS","article-title":"Protein disorder and human genetic disease","author":"Uversky","year":"2001"},{"key":"10.1016\/j.jmb.2013.07.014_bb0690","doi-asserted-by":"crossref","first-page":"2856","DOI":"10.1016\/j.bpj.2012.05.023","article-title":"Conformational properties of the disease-causing Z variant of alpha1-antitrypsin revealed by theory and experiment","volume":"102","author":"Kass","year":"2012","journal-title":"Biophys J"},{"key":"10.1016\/j.jmb.2013.07.014_bb0935","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/(SICI)1099-0496(199911)28:5<363::AID-PPUL9>3.0.CO;2-#","article-title":"Serine proteinase inhibitor therapy in alpha(1)-antitrypsin inhibitor deficiency and cystic fibrosis","volume":"28","author":"Doring","year":"1999","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0695","article-title":"Systematic investigation of predicted effect of nonsynonymous SNPs in human prion protein gene: a molecular modeling and molecular dynamics study","author":"Jahandideh","year":"2013","journal-title":"J Biomol Struct Dyn"},{"key":"10.1016\/j.jmb.2013.07.014_bb0940","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1080\/07391102.2012.703067","article-title":"Exploring the mechanism of a regulatory SNP of KLK3 by molecular dynamics simulation","volume":"31","author":"Zhang","year":"2013","journal-title":"J Biomol Struct Dyn"},{"key":"10.1016\/j.jmb.2013.07.014_bb0945","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1007\/s00439-011-0981-1","article-title":"Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript","volume":"129","author":"Kote-Jarai","year":"2011","journal-title":"Hum Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0950","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1375\/twin.14.4.323","article-title":"Kallikrein-related peptidase 3 (KLK3\/PSA) single nucleotide polymorphisms and ovarian cancer survival","volume":"14","author":"O'Mara","year":"2011","journal-title":"Twin Res Hum Genet"},{"key":"10.1016\/j.jmb.2013.07.014_bb0645","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.neuroscience.2011.09.023","article-title":"D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness","volume":"197","author":"Nicchia","year":"2011","journal-title":"Neuroscience"},{"key":"10.1016\/j.jmb.2013.07.014_bb0650","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.2013.07.014_bb0660","doi-asserted-by":"crossref","first-page":"31739","DOI":"10.1074\/jbc.M112.353839","article-title":"Structural features and domain organization of huntingtin fibrils","volume":"287","author":"Bugg","year":"2012","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0665","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1186\/1471-2164-12-S5-S2","article-title":"Changes in predicted protein disorder tendency may contribute to disease risk","volume":"12","author":"Hu","year":"2011","journal-title":"BMC Genomics"},{"key":"10.1016\/j.jmb.2013.07.014_bb0670","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1039\/C1MB05251A","article-title":"Disease mutations in disordered regions\u2014exception to the rule?","volume":"8","author":"Vacic","year":"2012","journal-title":"Mol Biosyst"},{"key":"10.1016\/j.jmb.2013.07.014_bb0675","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1016\/j.str.2011.05.009","article-title":"Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease","volume":"19","author":"Sakakura","year":"2011","journal-title":"Structure"},{"key":"10.1016\/j.jmb.2013.07.014_bb0680","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1016\/j.jmb.2010.09.060","article-title":"Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfolding","volume":"404","author":"van der Kamp","year":"2010","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0685","article-title":"Molecular dynamics simulations show how the FMRP Ile304Asn mutation destabilizes the KH2 domain structure and affects its function","author":"Di Marino","year":"2013","journal-title":"J Biomol Struct Dyn"},{"key":"10.1016\/j.jmb.2013.07.014_bb0700","doi-asserted-by":"crossref","first-page":"e1000002","DOI":"10.1371\/journal.pcbi.1000002","article-title":"How protein stability and new functions trade off","volume":"4","author":"Tokuriki","year":"2008","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0705","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/1471-2105-8-141","article-title":"Relating destabilizing regions to known functional sites in proteins","volume":"8","author":"Dessailly","year":"2007","journal-title":"BMC Bioinf"},{"key":"10.1016\/j.jmb.2013.07.014_bb0710","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1006\/jmbi.2001.5009","article-title":"Prediction of functionally important residues based solely on the computed energetics of protein structure","volume":"312","author":"Elcock","year":"2001","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0715","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1042\/BJ20121221","article-title":"Residue mutations and their impact on protein structure and function: detecting beneficial and pathogenic changes","volume":"449","author":"Studer","year":"2013","journal-title":"Biochem J"},{"key":"10.1016\/j.jmb.2013.07.014_bb0720","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/0022-2836(92)90387-Y","article-title":"Effect of active site residues in barnase on activity and stability","volume":"225","author":"Meiering","year":"1992","journal-title":"J Mol Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0725","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1073\/pnas.92.2.452","article-title":"A relationship between protein stability and protein function","volume":"92","author":"Shoichet","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.014_bb0730","doi-asserted-by":"crossref","first-page":"14754","DOI":"10.1073\/pnas.0404569101","article-title":"Automated prediction of protein function and detection of functional sites from structure","volume":"101","author":"Pazos","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.014_bb0735","doi-asserted-by":"crossref","first-page":"W573","DOI":"10.1093\/nar\/gkm297","article-title":"firestar\u2014prediction of functionally important residues using structural templates and alignment reliability","volume":"35","author":"Lopez","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0740","doi-asserted-by":"crossref","first-page":"D834","DOI":"10.1093\/nar\/gkr997","article-title":"IBIS (Inferred Biomolecular Interaction Server) reports, predicts and integrates multiple types of conserved interactions for proteins","volume":"40","author":"Shoemaker","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0745","doi-asserted-by":"crossref","first-page":"e1000585","DOI":"10.1371\/journal.pcbi.1000585","article-title":"Predicting protein ligand binding sites by combining evolutionary sequence conservation and 3D structure","volume":"5","author":"Capra","year":"2009","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0750","doi-asserted-by":"crossref","first-page":"e1002924","DOI":"10.1371\/journal.pcbi.1002924","article-title":"Enhancing human spermine synthase activity by engineered mutations","volume":"9","author":"Zhang","year":"2013","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0955","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1161\/01.RES.0000237920.70451.ad","article-title":"Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro","volume":"99","author":"Singaraja","year":"2006","journal-title":"Circ Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0960","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1194\/jlr.M800597-JLR200","article-title":"Sodium taurocholate-dependent lipid efflux by ABCA1: effects of W590S mutation on lipid translocation and apolipoprotein A-I dissociation","volume":"50","author":"Nagao","year":"2009","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0965","doi-asserted-by":"crossref","first-page":"7397","DOI":"10.1074\/jbc.M110.178368","article-title":"Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers","volume":"286","author":"Wang","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jmb.2013.07.014_bb0970","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1097\/01.ASN.0000017904.77985.03","article-title":"Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome","volume":"13","author":"De Jong","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0755","doi-asserted-by":"crossref","first-page":"7910","DOI":"10.1038\/sj.onc.1208077","article-title":"The road to Src","volume":"23","author":"Martin","year":"2004","journal-title":"Oncogene"},{"key":"10.1016\/j.jmb.2013.07.014_bb0760","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1002\/prot.22512","article-title":"Cancer-associated mutations are preferentially distributed in protein kinase functional sites","volume":"77","author":"Izarzugaza","year":"2009","journal-title":"Proteins"},{"key":"10.1016\/j.jmb.2013.07.014_bb0765","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.2013.07.014_bb0770","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.ccr.2006.12.017","article-title":"Structures of lung cancer-derived EGFR mutants and inhibitor complexes: mechanism of activation and insights into differential inhibitor sensitivity","volume":"11","author":"Yun","year":"2007","journal-title":"Cancer Cell"},{"key":"10.1016\/j.jmb.2013.07.014_bb0775","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1016\/j.cell.2006.05.013","article-title":"An allosteric mechanism for activation of the kinase domain of epidermal growth factor receptor","volume":"125","author":"Zhang","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.jmb.2013.07.014_bb0780","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1073\/pnas.0709662105","article-title":"The T790M mutation in EGFR kinase causes drug resistance by increasing the affinity for ATP","volume":"105","author":"Yun","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.014_bb0785","doi-asserted-by":"crossref","first-page":"e1000487","DOI":"10.1371\/journal.pcbi.1000487","article-title":"Hierarchical modeling of activation mechanisms in the ABL and EGFR kinase domains: thermodynamic and mechanistic catalysts of kinase activation by cancer mutations","volume":"5","author":"Dixit","year":"2009","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jmb.2013.07.014_bb0790","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1002\/humu.22145","article-title":"Oncogenic potential is related to activating effect of cancer single and double somatic mutations in receptor tyrosine kinases","volume":"33","author":"Hashimoto","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.014_bb0795","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1073\/pnas.032655699","article-title":"The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage","volume":"99","author":"Colgin","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jmb.2013.07.014_bb0800","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1002\/humu.21088","article-title":"Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes","volume":"30","author":"Chen","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.014_bb0805","doi-asserted-by":"crossref","first-page":"e3714","DOI":"10.1371\/journal.pone.0003714","article-title":"Epidemiology of doublet\/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events","volume":"3","author":"Chen","year":"2008","journal-title":"PLoS One"},{"key":"10.1016\/j.jmb.2013.07.014_bb0810","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0921-8777(99)00053-1","article-title":"Multiple mutations of the p53 gene in human mammary carcinoma","volume":"435","author":"Meng","year":"1999","journal-title":"Mutat Res"},{"key":"10.1016\/j.jmb.2013.07.014_bb0815","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1038\/nm1295-1291","article-title":"The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway","volume":"1","author":"Haass","year":"1995","journal-title":"Nat Med"},{"key":"10.1016\/j.jmb.2013.07.014_bb0820","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/humu.10275","article-title":"Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele","volume":"22","author":"Yasuda","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmb.2013.07.014_bb0825","doi-asserted-by":"crossref","first-page":"e9186","DOI":"10.1371\/journal.pone.0009186","article-title":"Structural and functional restraints on the occurrence of single amino acid variations in human proteins","volume":"5","author":"Gong","year":"2010","journal-title":"PLoS One"}],"container-title":["Journal of Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022283613004464?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022283613004464?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T16:00:45Z","timestamp":1715702445000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022283613004464"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":194,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S0022283613004464"],"URL":"https:\/\/doi.org\/10.1016\/j.jmb.2013.07.014","relation":{},"ISSN":["0022-2836"],"issn-type":[{"value":"0022-2836","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]}}}