{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T19:16:04Z","timestamp":1791141364453,"version":"4.1.0"},"reference-count":92,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,3,18]],"date-time":"2010-03-18T00:00:00Z","timestamp":1268870400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2010,3,18]],"date-time":"2010-03-18T00:00:00Z","timestamp":1268870400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH","award":["R01 GM73784"],"award-info":[{"award-number":["R01 GM73784"]}]},{"name":"NIH","award":["R01 HL057299"],"award-info":[{"award-number":["R01 HL057299"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Proteins"],"published-print":{"date-parts":[[2010,7]]},"DOI":"10.1002\/prot.22722","type":"journal-article","created":{"date-parts":[[2010,3,20]],"date-time":"2010-03-20T22:31:31Z","timestamp":1269124291000},"page":"2058-2074","source":"Crossref","is-referenced-by-count":57,"title":["Testing computational prediction of missense mutation phenotypes: Functional characterization of 204 mutations of human cystathionine beta synthase"],"prefix":"10.1002","volume":"78","author":[{"given":"Qiong","family":"Wei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren D.","family":"Kruger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Roland L.","family":"Dunbrack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,3,18]]},"reference":[{"key":"10.1002\/prot.22722-BIB1|cit1","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1126\/science.282.5389.682","article-title":"New goals for the U.S. human genome project: 1998-2003","volume":"282","author":"Collins","year":"1998","journal-title":"Science"},{"key":"10.1002\/prot.22722-BIB2|cit2","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1146\/annurev.med.60.061907.093117","article-title":"The HapMap and genome-wide association studies in diagnosis and therapy","volume":"60","author":"Manolio","year":"2009","journal-title":"Annu Rev Med"},{"key":"10.1002\/prot.22722-BIB3|cit3","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1073\/pnas.91.4.1579","article-title":"Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B","volume":"91","author":"Carlson","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/prot.22722-BIB4|cit4","first-page":"3982","article-title":"Missense mutations of the transforming growth factor beta type II receptor in human head and neck squamous carcinoma cells","volume":"55","author":"Garrigue-Antar","year":"1995","journal-title":"Cancer Res"},{"key":"10.1002\/prot.22722-BIB5|cit5","doi-asserted-by":"crossref","first-page":"917","DOI":"10.3109\/00365529609052002","article-title":"Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene","volume":"31","author":"Marchese","year":"1996","journal-title":"Scand J Gastroenterol"},{"key":"10.1002\/prot.22722-BIB6|cit6","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1007\/s004390050517","article-title":"Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue","volume":"100","author":"Wang","year":"1997","journal-title":"Hum Genet"},{"key":"10.1002\/prot.22722-BIB7|cit7","first-page":"1129","article-title":"Missense alterations of BRCA1 gene detected in diverse cancer patients","volume":"20","author":"Shen","year":"2000","journal-title":"Anticancer Res"},{"key":"10.1002\/prot.22722-BIB8|cit8","doi-asserted-by":"crossref","first-page":"2414","DOI":"10.1210\/jc.2003-031425","article-title":"BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas","volume":"89","author":"Puxeddu","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/prot.22722-BIB9|cit9","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K","article-title":"Cystathionine beta-synthase mutations in homocystinuria","volume":"13","author":"Kraus","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1002\/prot.22722-BIB10|cit10","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1097\/00006676-199903000-00006","article-title":"Screening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan","volume":"18","author":"Huang","year":"1999","journal-title":"Pancreas"},{"key":"10.1002\/prot.22722-BIB11|cit11","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.2337\/diabetes.48.8.1645","article-title":"Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype","volume":"48","author":"Miller","year":"1999","journal-title":"Diabetes"},{"key":"10.1002\/prot.22722-BIB12|cit12","doi-asserted-by":"crossref","first-page":"R33","DOI":"10.1172\/JCI7449","article-title":"Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes","volume":"104","author":"Macfarlane","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1002\/prot.22722-BIB13|cit13","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/(SICI)1098-1004(1996)8:4<340::AID-HUMU7>3.0.CO;2-B","article-title":"Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes","volume":"8","author":"Hughes","year":"1996","journal-title":"Hum Mutat"},{"key":"10.1002\/prot.22722-BIB14|cit14","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/(SICI)1098-1004(1998)11:6<481::AID-HUMU13>3.0.CO;2-N","article-title":"Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr","volume":"11","author":"Besancon","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/prot.22722-BIB15|cit15","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/S0278-5846(99)00034-2","article-title":"Twenty-nine missense mutations linked with familial Alzheimer's disease alter the processing of presenilin 1","volume":"23","author":"Murayama","year":"1999","journal-title":"Prog Neuropsychopharmacol Biol Psychiatry"},{"key":"10.1002\/prot.22722-BIB16|cit16","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1086\/302553","article-title":"Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum","volume":"65","author":"Campion","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/prot.22722-BIB17|cit17","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1093\/nar\/26.1.285","article-title":"The human gene mutation database","volume":"26","author":"Cooper","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/prot.22722-BIB18|cit18","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human gene mutation database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/prot.22722-BIB19|cit19","doi-asserted-by":"crossref","first-page":"D468","DOI":"10.1093\/nar\/gkh038","article-title":"Ensembl 2004","volume":"32","author":"Birney","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/prot.22722-BIB20|cit20","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":"10.1002\/prot.22722-BIB21|cit21","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1517\/phgs.4.2.171.22636","article-title":"Haplotype analysis in population genetics and association studies","volume":"4","author":"Zhao","year":"2003","journal-title":"Pharmacogenomics"},{"key":"10.1002\/prot.22722-BIB22|cit22","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0027-5107(03)00014-9","article-title":"SNP and haplotype variation in the human genome","volume":"526","author":"Salisbury","year":"2003","journal-title":"Mutat Res"},{"key":"10.1002\/prot.22722-BIB23|cit23","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0065-3233(08)60337-X","article-title":"Studies on protein stability with T4 lysozyme","volume":"46","author":"Matthews","year":"1995","journal-title":"Adv Protein Chem"},{"key":"10.1002\/prot.22722-BIB24|cit24","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/0022-2836(91)90738-R","article-title":"Systematic mutation of bacteriophage T4 lysozyme","volume":"222","author":"Rennell","year":"1991","journal-title":"J Mol Biol"},{"key":"10.1002\/prot.22722-BIB25|cit25","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/prot.340010113","article-title":"Mutant forms of staphylococcal nuclease with altered patterns of guanidine hydrochloride and urea denaturation","volume":"1","author":"Shortle","year":"1986","journal-title":"Proteins: Struct Funct Genet"},{"key":"10.1002\/prot.22722-BIB26|cit26","doi-asserted-by":"crossref","first-page":"5717","DOI":"10.1021\/bi00140a005","article-title":"Contributions of the polar, uncharged amino acids to the stability of staphylococcal nuclease: evidence for mutational effects on the free energy of the denatured state","volume":"31","author":"Green","year":"1992","journal-title":"Biochemistry"},{"key":"10.1002\/prot.22722-BIB27|cit27","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/S0022-2836(05)80008-7","article-title":"Evidence for strained interactions between side-chains and the polypeptide backbone","volume":"235","author":"Stites","year":"1994","journal-title":"J Mol Biol"},{"key":"10.1002\/prot.22722-BIB28|cit28","doi-asserted-by":"crossref","first-page":"6443","DOI":"10.1021\/bi960171+","article-title":"Contributions of the ionizable amino acids to the stability of staphylococcal nuclease","volume":"35","author":"Meeker","year":"1996","journal-title":"Biochemistry"},{"key":"10.1002\/prot.22722-BIB29|cit29","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1038\/340397a0","article-title":"Complete mutagenesis of the HIV-1 protease","volume":"340","author":"Loeb","year":"1989","journal-title":"Nature"},{"key":"10.1002\/prot.22722-BIB30|cit30","doi-asserted-by":"crossref","first-page":"5590","DOI":"10.1073\/pnas.93.11.5590","article-title":"Active barnase variants with completely random hydrophobic cores","volume":"93","author":"Axe","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/prot.22722-BIB31|cit31","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1006\/jmbi.1994.1458","article-title":"Genetic studies of the lac repressor. XIV. Analysis of 4000 altered Escherichia coli lac repressors reveals essential and non-essential residues, as well as \u201cspacers\u201d which do not require a specific sequence","volume":"240","author":"Markiewicz","year":"1994","journal-title":"J Mol Biol"},{"key":"10.1002\/prot.22722-BIB32|cit32","doi-asserted-by":"crossref","first-page":"3359","DOI":"10.1016\/S0021-9258(17)33445-2","article-title":"Mutations affecting the quaternary structure of the lac repressor","volume":"251","author":"Schmitz","year":"1976","journal-title":"J Biol Chem"},{"key":"10.1002\/prot.22722-BIB33|cit33","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/0022-2836(90)90126-7","article-title":"Genetic studies of the lac repressor. XIII. Extensive amino acid replacements generated by the use of natural and synthetic nonsense suppressors","volume":"212","author":"Kleina","year":"1990","journal-title":"J Mol Biol"},{"key":"10.1002\/prot.22722-BIB34|cit34","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1006\/jmbi.1996.0479","article-title":"Genetic studies of the Lac repressor. XV: 4000 single amino acid substitutions and analysis of the resulting phenotypes on the basis of the protein structure","volume":"261","author":"Suckow","year":"1996","journal-title":"J Mol Biol"},{"key":"10.1002\/prot.22722-BIB35|cit35","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/S0968-0004(97)01104-3","article-title":"Lac repressor genetic map in real space","volume":"22","author":"Pace","year":"1997","journal-title":"Trends Biochem Sci"},{"key":"10.1002\/prot.22722-BIB36|cit36","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1126\/science.271.5253.1247","article-title":"Crystal structure of the lactose operon repressor and its complexes with DNA and inducer","volume":"271","author":"Lewis","year":"1996","journal-title":"Science"},{"key":"10.1002\/prot.22722-BIB37|cit37","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/78907","article-title":"A closer view of the conformation of the Lac repressor bound to operator","volume":"7","author":"Bell","year":"2000","journal-title":"Nat Struct Biol"},{"key":"10.1002\/prot.22722-BIB38|cit38","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":"10.1002\/prot.22722-BIB39|cit39","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":"10.1002\/prot.22722-BIB40|cit40","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":"10.1002\/prot.22722-BIB41|cit41","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":"10.1002\/prot.22722-BIB42|cit42","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":"10.1002\/prot.22722-BIB43|cit43","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":"10.1002\/prot.22722-BIB44|cit44","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":"10.1002\/prot.22722-BIB45|cit45","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1002\/prot.20252","article-title":"Sequence-based prediction of pathological mutations","volume":"57","author":"Ferrer-Costa","year":"2004","journal-title":"Proteins"},{"key":"10.1002\/prot.22722-BIB46|cit46","doi-asserted-by":"crossref","first-page":"3176","DOI":"10.1093\/bioinformatics\/bti486","article-title":"PMUT: a web-based tool for the annotation of pathological mutations on proteins","volume":"21","author":"Ferrer-Costa","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1002\/prot.22722-BIB47|cit47","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":"10.1002\/prot.22722-BIB48|cit48","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1093\/bioinformatics\/bti365","article-title":"Prediction of the phenotypic effects of non-synonymous single nucleotide polymorphisms using structural and evolutionary information","volume":"21","author":"Bao","year":"2005","journal-title":"Bioinformatics"},{"issue":"Web Server issu","key":"10.1002\/prot.22722-BIB49|cit49","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":"10.1002\/prot.22722-BIB50|cit50","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1089\/ars.2005.7.813","article-title":"The role of cystathionine beta-synthase in homocysteine metabolism","volume":"7","author":"Jhee","year":"2005","journal-title":"Antioxid Redox Signal"},{"key":"10.1002\/prot.22722-BIB51|cit51","first-page":"2007","volume-title":"The metabolic basis of inherited disease","author":"Mudd","year":"2001"},{"issue":"Suppl 2","key":"10.1002\/prot.22722-BIB52|cit52","doi-asserted-by":"crossref","first-page":"S67","DOI":"10.1007\/PL00014309","article-title":"Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian collaborative study group on homocystinuria","volume":"157","author":"De Franchis","year":"1998","journal-title":"Eur J Pediatrics"},{"key":"10.1002\/prot.22722-BIB53|cit53","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/ng0598-91","article-title":"Correction of disease-causing CBS mutations in yeast","volume":"19","author":"Shan","year":"1998","journal-title":"Nat Genet"},{"key":"10.1002\/prot.22722-BIB54|cit54","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1093\/hmg\/4.7.1155","article-title":"A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene","volume":"4","author":"Kruger","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1002\/prot.22722-BIB55|cit55","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/0005-2795(75)90109-9","article-title":"Comparison of the predicted and observed secondary structure of T4 phage lysozyme","volume":"405","author":"Matthews","year":"1975","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/prot.22722-BIB56|cit56","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1093\/bioinformatics\/16.5.412","article-title":"Assessing the accuracy of prediction algorithms for classification: an overview","volume":"16","author":"Baldi","year":"2000","journal-title":"Bioinformatics"},{"key":"10.1002\/prot.22722-BIB57|cit57","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1023\/A:1010933404324","article-title":"Random forests","volume":"35","author":"Breiman","year":"2001","journal-title":"Mach Learn"},{"key":"10.1002\/prot.22722-BIB58|cit58","doi-asserted-by":"crossref","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","article-title":"Gapped BLAST and PSI-BLAST: a new generation of database programs","volume":"25","author":"Altschul","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/prot.22722-BIB59|cit59","doi-asserted-by":"crossref","first-page":"D13","DOI":"10.1093\/nar\/gkm1000","article-title":"Database resources of the national center for biotechnology information","volume":"36","author":"Wheeler","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/prot.22722-BIB60|cit60","volume-title":"NACCESS","author":"Hubbard","year":"1993"},{"key":"10.1002\/prot.22722-BIB61|cit61","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/978-1-4899-3324-9","volume-title":"Density estimation for statistics and data analysis","author":"Silverman","year":"1986"},{"key":"10.1002\/prot.22722-BIB62|cit62","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1214\/009053604000000959","article-title":"Bandwidth choice for nonparametric classification","volume":"33","author":"Hall","year":"2005","journal-title":"Ann Stat"},{"key":"10.1002\/prot.22722-BIB63|cit63","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1006\/abbi.1998.0723","article-title":"Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences","volume":"355","author":"Kery","year":"1998","journal-title":"Arch Biochem Biophys"},{"key":"10.1002\/prot.22722-BIB64|cit64","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1093\/hmg\/10.6.635","article-title":"Mutations in the regulatory domain of cystathionine beta-synthase can functionally suppress patient-derived mutations in cis","volume":"10","author":"Shan","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/prot.22722-BIB65|cit65","doi-asserted-by":"crossref","first-page":"3910","DOI":"10.1093\/emboj\/20.15.3910","article-title":"Structure of human cystathionine beta-synthase: a unique pyridoxal 5\u2032-phosphate-dependent heme protein","volume":"20","author":"Meier","year":"2001","journal-title":"EMBO J"},{"key":"10.1002\/prot.22722-BIB66|cit66","doi-asserted-by":"crossref","first-page":"10454","DOI":"10.1021\/bi026052d","article-title":"Human cystathionine beta-synthase is a heme sensor protein. Evidence that the redox sensor is heme and not the vicinal cysteines in the CXXC motif seen in the crystal structure of the truncated enzyme","volume":"41","author":"Taoka","year":"2002","journal-title":"Biochemistry"},{"key":"10.1002\/prot.22722-BIB67|cit67","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1093\/hmg\/6.13.2213","article-title":"Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria","volume":"6","author":"Kim","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/prot.22722-BIB68|cit68","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1093\/hmg\/10.6.635","article-title":"Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis","volume":"10","author":"Shan","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/prot.22722-BIB69|cit69","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/humu.10290","article-title":"Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype","volume":"22","author":"Kruger","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/prot.22722-BIB70|cit70","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1073\/pnas.032457899","article-title":"Discrimination against purine-pyrimidine mispairs in the polymerase active site of DNA polymerase I: a structural explanation","volume":"99","author":"Minnick","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/prot.22722-BIB71|cit71","doi-asserted-by":"crossref","first-page":"32728","DOI":"10.1074\/jbc.M000097200","article-title":"Thermus aquaticus DNA polymerase I mutants with altered fidelity. Interacting mutations in the O-helix","volume":"275","author":"Suzuki","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1002\/prot.22722-BIB72|cit72","first-page":"327","article-title":"Dirichlet mixtures: a method for improved detection of weak but significant protein sequence homology","volume":"12","author":"Sj\u00f6lander","year":"1996","journal-title":"Comput Appl Biosci"},{"key":"10.1002\/prot.22722-BIB73|cit73","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/10.6.591","article-title":"Prediction of deleterious human alleles","volume":"10","author":"Sunyaev","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/prot.22722-BIB74|cit74","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0168-9525(00)01988-0","article-title":"Towards a structural basis of human non-synonymous single nucleotide polymorphisms","volume":"16","author":"Sunyaev","year":"2000","journal-title":"Trends Genet"},{"key":"10.1002\/prot.22722-BIB75|cit75","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1007\/s001099900059","article-title":"Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes","volume":"77","author":"Sunyaev","year":"1999","journal-title":"J Mol Med"},{"key":"10.1002\/prot.22722-BIB76|cit76","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/S0968-0004(98)01253-5","article-title":"PQS: a protein quaternary structure file server","volume":"23","author":"Henrick","year":"1998","journal-title":"Trends Biochem Sci"},{"key":"10.1002\/prot.22722-BIB77|cit77","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1093\/nar\/30.1.387","article-title":"HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources","volume":"30","author":"Fredman","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/prot.22722-BIB78|cit78","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1093\/nar\/22.22.4673","article-title":"CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice","volume":"22","author":"Thompson","year":"1994","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/prot.22722-BIB79|cit79","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1110\/ps.03154503","article-title":"A graph-theory algorithm for rapid protein side-chain prediction","volume":"12","author":"Canutescu","year":"2003","journal-title":"Protein Sci"},{"key":"10.1002\/prot.22722-BIB80|cit80","first-page":"47","article-title":"SWISS-PROT: connecting biomolecular knowledge via a protein database","volume":"3","author":"Gasteiger","year":"2001","journal-title":"Curr Issues Mol Biol"},{"key":"10.1002\/prot.22722-BIB81|cit81","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1073\/pnas.91.3.1059","article-title":"Hidden Markov models of biological primary sequence information","volume":"91","author":"Baldi","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/prot.22722-BIB82|cit82","doi-asserted-by":"crossref","first-page":"10915","DOI":"10.1073\/pnas.89.22.10915","article-title":"Amino acid substitution matrices from protein blocks","volume":"89","author":"Henikoff","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/prot.22722-BIB83|cit83","doi-asserted-by":"crossref","first-page":"D189","DOI":"10.1093\/nar\/gkh034","article-title":"The ASTRAL Compendium in 2004","volume":"32","author":"Chandonia","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/prot.22722-BIB84|cit84","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/S1570-9639(03)00048-7","article-title":"Structural insights into mutations of cystathionine beta-synthase","volume":"1647","author":"Meier","year":"2003","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/prot.22722-BIB85|cit85","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1002\/prot.22284","article-title":"Crystal structure of a 1.6-hexanediol bound tetrameric form of Escherichia coli lac-repressor refined to 2.1 A resolution","volume":"75","author":"Stenberg","year":"2009","journal-title":"Proteins"},{"key":"10.1002\/prot.22722-BIB86|cit86","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/S0968-0004(96)30046-7","article-title":"The structure of a domain common to archaebacteria and the homocystinuria disease protein","volume":"22","author":"Bateman","year":"1997","journal-title":"Trends Biochem Sci"},{"key":"10.1002\/prot.22722-BIB87|cit87","doi-asserted-by":"crossref","first-page":"2876","DOI":"10.1093\/bioinformatics\/btl490","article-title":"ProtBuD: a database of biological unit structures of protein families and superfamilies","volume":"22","author":"Xu","year":"2006","journal-title":"Bioinformatics"},{"key":"10.1002\/prot.22722-BIB88|cit88","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.jmb.2008.06.002","article-title":"Statistical analysis of interface similarity in crystals of homologous proteins","volume":"381","author":"Xu","year":"2008","journal-title":"J Mol Biol"},{"key":"10.1002\/prot.22722-BIB89|cit89","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/0022-2836(91)90721-H","article-title":"Influence of proline residues on protein conformation","volume":"218","author":"MacArthur","year":"1991","journal-title":"J Mol Biol"},{"issue":"Suppl 7","key":"10.1002\/prot.22722-BIB90|cit90","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/prot.20740","article-title":"Progress over the first decade of CASP experiments","volume":"61","author":"Kryshtafovych","year":"2005","journal-title":"Proteins: Struct Funct Genet"},{"key":"10.1002\/prot.22722-BIB91|cit91","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1002\/prot.10381","article-title":"CAPRI: a critical assessment of PRedicted interactions","volume":"52","author":"Janin","year":"2003","journal-title":"Proteins: Struct Funct Genet"},{"key":"10.1002\/prot.22722-BIB92|cit92","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/prot.22488","article-title":"Improved prediction of protein side-chain conformations with SCWRL4","volume":"77","author":"Krivov","year":"2009","journal-title":"Proteins"}],"container-title":["Proteins: Structure, Function, and Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fprot.22722","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fprot.22722","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/prot.22722\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T01:49:56Z","timestamp":1635126596000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/prot.22722"}},"subtitle":["Prediction of Missense Mutation Phenotypes"],"short-title":[],"issued":{"date-parts":[[2010,3,18]]},"references-count":92,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,7]]}},"URL":"https:\/\/doi.org\/10.1002\/prot.22722","archive":["Portico"],"relation":{},"ISSN":["0887-3585"],"issn-type":[{"value":"0887-3585","type":"print"}],"subject":[],"published":{"date-parts":[[2010,3,18]]}}}