{"id":"https://openalex.org/W4211053972","doi":"https://doi.org/10.1107/s010876732109005x","title":"Structural characterization of missense mutation identified in BRCA2 using comparative biophysical and dynamics studies","display_name":"Structural characterization of missense mutation identified in BRCA2 using comparative biophysical and dynamics studies","publication_year":2021,"publication_date":"2021-08-14","ids":{"openalex":"https://openalex.org/W4211053972","doi":"https://doi.org/10.1107/s010876732109005x"},"language":"en","primary_location":{"id":"doi:10.1107/s010876732109005x","doi":"https://doi.org/10.1107/s010876732109005x","is_oa":false,"landing_page_url":"https://doi.org/10.1107/s010876732109005x","pdf_url":null,"source":{"id":"https://openalex.org/S4393918093","display_name":"Acta Crystallographica Section A Foundations and Advances","issn_l":"2053-2733","issn":["2053-2733"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","jufo-1","medline","norway-1","poland-200","russia-white-list-2"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Crystallographica Section A Foundations and Advances","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001166102","display_name":"Mudassar Ali Khan","orcid":"https://orcid.org/0000-0001-5734-198X","observed_orcids":["https://orcid.org/0000-0001-5734-198X"]},"institutions":[{"id":"https://openalex.org/I200207707","display_name":"Homi Bhabha National Institute","ror":"https://ror.org/02bv3zr67","country_code":"IN","type":"education","lineage":["https://openalex.org/I200207707"]},{"id":"https://openalex.org/I4210157422","display_name":"Advanced Centre for Treatment, Research and Education in Cancer","ror":"https://ror.org/05b9pgt88","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2800098698","https://openalex.org/I4210157422"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Mudassar Ali Khan","raw_affiliation_strings":["Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Kharghar, Navi-Mumbai, India,","Homi Bhabha National Institute, Mumbai, India,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Kharghar, Navi-Mumbai, India,","institution_ids":["https://openalex.org/I4210157422"]},{"raw_affiliation_string":"Homi Bhabha National Institute, Mumbai, India,","institution_ids":["https://openalex.org/I200207707"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049023461","display_name":"Mohammad Quadir Siddiqui","orcid":"https://orcid.org/0000-0003-0891-3122","observed_orcids":["https://orcid.org/0000-0003-0891-3122"]},"institutions":[{"id":"https://openalex.org/I107949126","display_name":"University of Lethbridge","ror":"https://ror.org/044j76961","country_code":"CA","type":"education","lineage":["https://openalex.org/I107949126"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Mohd. Quadir Siddiqui","raw_affiliation_strings":["Alberta RNA Research and Training Institute, Department of Chemistry and Biochemistry, University of Lethbridge, 4401 University Drive, Lethbridge, AB T1K 3M4, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Alberta RNA Research and Training Institute, Department of Chemistry and Biochemistry, University of Lethbridge, 4401 University Drive, Lethbridge, AB T1K 3M4, Canada","institution_ids":["https://openalex.org/I107949126"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5078959504","display_name":"Ashok Kumar Varma","orcid":"https://orcid.org/0000-0001-6091-5315","observed_orcids":["https://orcid.org/0000-0001-6091-5315"]},"institutions":[{"id":"https://openalex.org/I200207707","display_name":"Homi Bhabha National Institute","ror":"https://ror.org/02bv3zr67","country_code":"IN","type":"education","lineage":["https://openalex.org/I200207707"]},{"id":"https://openalex.org/I4210157422","display_name":"Advanced Centre for Treatment, Research and Education in Cancer","ror":"https://ror.org/05b9pgt88","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I2800098698","https://openalex.org/I4210157422"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ashok K. Varma","raw_affiliation_strings":["Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Kharghar, Navi-Mumbai, India,","Homi Bhabha National Institute, Mumbai, India,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Kharghar, Navi-Mumbai, India,","institution_ids":["https://openalex.org/I4210157422"]},{"raw_affiliation_string":"Homi Bhabha National Institute, Mumbai, India,","institution_ids":["https://openalex.org/I200207707"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5001166102"],"corresponding_institution_ids":["https://openalex.org/I200207707","https://openalex.org/I4210157422"],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"77","issue":"a2","first_page":"C691","last_page":"C691"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.7559000253677368,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.7559000253677368,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10044","display_name":"Protein Structure and Dynamics","score":0.19599999487400055,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.031099999323487282,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9940000176429749},{"id":"https://openalex.org/keywords/c-terminal-domain","display_name":"C-terminal domain","score":0.6850000023841858},{"id":"https://openalex.org/keywords/dna-binding-domain","display_name":"DNA-binding domain","score":0.6819999814033508},{"id":"https://openalex.org/keywords/fancd2","display_name":"FANCD2","score":0.6840000152587891},{"id":"https://openalex.org/keywords/hereditary-breast-and-ovarian-cancer-syndrome","display_name":"hereditary breast and ovarian cancer","score":0.8209999799728394},{"id":"https://openalex.org/keywords/variant-pathogenicity-prediction","display_name":"variant pathogenicity prediction","score":0.7940000295639038},{"id":"https://openalex.org/keywords/protein-secondary-structure","display_name":"protein secondary structure","score":0.6069999933242798},{"id":"https://openalex.org/keywords/protein-tertiary-structure","display_name":"protein tertiary structure","score":0.972000002861023},{"id":"https://openalex.org/keywords/homologous-recombination","display_name":"homologous recombination","score":0.824999988079071},{"id":"https://openalex.org/keywords/double-strand-break-repair","display_name":"DNA double-strand break repair","score":0.8999999761581421},{"id":"https://openalex.org/keywords/interstrand-crosslink-repair","display_name":"interstrand crosslink repair","score":0.6859999895095825},{"id":"https://openalex.org/keywords/molecular-dynamics-simulation","display_name":"molecular dynamics simulation","score":0.6579999923706055}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.889799177646637},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6140509843826294},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5908917188644409},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5458659529685974},{"id":"https://openalex.org/C102744134","wikidata":"https://www.wikidata.org/wiki/Q22280388","display_name":"Homologous recombination","level":3,"score":0.5385116338729858},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5162987112998962},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4166313707828522},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.33873581886291504},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22935786843299866}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1107/s010876732109005x","doi":"https://doi.org/10.1107/s010876732109005x","is_oa":false,"landing_page_url":"https://doi.org/10.1107/s010876732109005x","pdf_url":null,"source":{"id":"https://openalex.org/S4393918093","display_name":"Acta Crystallographica Section A Foundations and Advances","issn_l":"2053-2733","issn":["2053-2733"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","jufo-1","medline","norway-1","poland-200","russia-white-list-2"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Crystallographica Section A Foundations and Advances","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.5683000087738037}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4223611716","https://openalex.org/W4328014500","https://openalex.org/W2777223253","https://openalex.org/W4309512004","https://openalex.org/W4211229597","https://openalex.org/W4213150904","https://openalex.org/W1972997345","https://openalex.org/W3082710480","https://openalex.org/W3183505942","https://openalex.org/W4398162550"],"abstract_inverted_index":{"Breast":[0],"cancer":[1,37],"type":[2],"2":[3],"susceptibility":[4],"(BRCA2)":[5],"protein":[6,129],"plays":[7],"an":[8,29],"essential":[9],"role":[10],"in":[11,26,47,115,139],"the":[12,48,90,102,116,124,133,150,169,174,178],"repair":[13],"of":[14,32,41,53,65,73,79,92,101,119,123,157,171,177],"DNA":[15,49],"double-strand":[16],"breaks":[17],"and":[18,35,82,85,126,132,137,142,154,159],"interstrand":[19],"cross-links":[20],"by":[21],"Homologous":[22],"recombination":[23],"[1].Germ-line":[24],"mutations":[25,43,68,172],"BRCA2":[27,54,128],"confer":[28],"increased":[30],"risk":[31],"hereditary":[33],"breast":[34],"ovarian":[36],"[2].A":[38],"large":[39],"number":[40],"missense":[42,67,112],"have":[44],"been":[45],"identified":[46,114],"binding":[50],"carboxy-terminal":[51],"domain":[52,118],"which":[55],"is":[56],"also":[57],"known":[58],"to":[59,77,88,109,148,167],"interact":[60],"with":[61],"FANCD2":[62],"[3].However,":[63],"majority":[64],"these":[66],"are":[69,94],"classified":[70],"as":[71],"variants":[72,93],"'Uncertain":[74],"Significance'":[75],"due":[76],"lack":[78],"structural,":[80],"functional,":[81],"clinical":[83,99],"studies.Accurate":[84],"reliable":[86],"methods":[87],"predict":[89],"pathogenicity":[91],"utmost":[95],"required":[96],"for":[97],"better":[98],"management":[100],"disease.Here":[103],"we":[104],"present":[105],"a":[106,111],"multi-disciplinary":[107],"approach":[108],"characterize":[110],"mutation":[113],"C-terminal":[117],"BRCA2.Different":[120],"functional":[121],"domains":[122],"wild-type":[125,158],"mutant":[127,160],"were":[130,135,146],"cloned":[131],"proteins":[134],"expressed":[136],"purified":[138],"bacterial":[140],"system.Circulardichroism":[141],"Fluorescence":[143],"spectroscopic":[144],"techniques":[145],"employed":[147],"evaluate":[149],"differences":[151],"between":[152],"secondary":[153],"tertiary":[155],"structures":[156],"protein.Molecular":[161],"Dynamics":[162],"Simulation":[163],"was":[164],"further":[165],"utilized":[166],"measure":[168],"effect":[170],"on":[173],"structural":[175],"conformation":[176],"protein.":[179]},"counts_by_year":[],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2022-02-13T00:00:00"}
