{"id":"https://openalex.org/W2972068303","doi":"https://doi.org/10.29130/dubited.571528","title":"Assessing the Functional Properties of the TMCO1 Sequence Variants by Using In Silico Analyses","display_name":"Assessing the Functional Properties of the TMCO1 Sequence Variants by Using In Silico Analyses","publication_year":2019,"publication_date":"2019-07-31","ids":{"openalex":"https://openalex.org/W2972068303","doi":"https://doi.org/10.29130/dubited.571528","mag":"2972068303"},"language":"en","primary_location":{"id":"doi:10.29130/dubited.571528","doi":"https://doi.org/10.29130/dubited.571528","is_oa":true,"landing_page_url":"https://doi.org/10.29130/dubited.571528","pdf_url":"https://dergipark.org.tr/en/download/article-file/771502","source":{"id":"https://openalex.org/S4210230135","display_name":"D\u00fczce \u00dcniversitesi Bilim ve Teknoloji Dergisi","issn_l":"2148-2446","issn":["2148-2446"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus","tr-dizin"],"host_organization":"https://openalex.org/P4310318352","host_organization_name":"D\u00fczce University","host_organization_lineage":["https://openalex.org/P4310318352"],"host_organization_lineage_names":["D\u00fczce University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"D\u00fczce \u00dcniversitesi Bilim ve Teknoloji Dergisi","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://dergipark.org.tr/en/download/article-file/771502","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5091812680","display_name":"Dilek Pirim","orcid":"https://orcid.org/0000-0002-0522-9432","observed_orcids":["https://orcid.org/0000-0002-0522-9432"]},"institutions":[{"id":"https://openalex.org/I131835042","display_name":"Bursa Uluda\u011f \u00dcni\u0307versi\u0307tesi\u0307","ror":"https://ror.org/03tg3eb07","country_code":"TR","type":"education","lineage":["https://openalex.org/I131835042"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Dilek P\u0130R\u0130M","raw_affiliation_strings":["Uludag University"],"raw_orcid":"https://orcid.org/0000-0002-0522-9432","affiliations":[{"raw_affiliation_string":"Uludag University","institution_ids":["https://openalex.org/I131835042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011465628","display_name":"Erva Ulusoy","orcid":"https://orcid.org/0000-0002-2643-0362","observed_orcids":["https://orcid.org/0000-0002-2643-0362"]},"institutions":[{"id":"https://openalex.org/I131835042","display_name":"Bursa Uluda\u011f \u00dcni\u0307versi\u0307tesi\u0307","ror":"https://ror.org/03tg3eb07","country_code":"TR","type":"education","lineage":["https://openalex.org/I131835042"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Erva ULUSOY","raw_affiliation_strings":["Uludag University","Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Uludag University, Bursa, TURKEY"],"raw_orcid":"https://orcid.org/0000-0002-2643-0362","affiliations":[{"raw_affiliation_string":"Uludag University","institution_ids":["https://openalex.org/I131835042"]},{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Uludag University, Bursa, TURKEY","institution_ids":["https://openalex.org/I131835042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102992384","display_name":"Zeynep A\u00e7elya Kurt","orcid":"https://orcid.org/0000-0003-2466-2335","observed_orcids":["https://orcid.org/0000-0003-2466-2335"]},"institutions":[{"id":"https://openalex.org/I131835042","display_name":"Bursa Uluda\u011f \u00dcni\u0307versi\u0307tesi\u0307","ror":"https://ror.org/03tg3eb07","country_code":"TR","type":"education","lineage":["https://openalex.org/I131835042"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Zeynep KURT","raw_affiliation_strings":["Uludag University","Department of Molecular Biology and Genetics, Institute of Natural and Applied Science, Uludag University, Bursa, TURKEY"],"raw_orcid":"https://orcid.org/0000-0003-2466-2335","affiliations":[{"raw_affiliation_string":"Uludag University","institution_ids":["https://openalex.org/I131835042"]},{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Institute of Natural and Applied Science, Uludag University, Bursa, TURKEY","institution_ids":["https://openalex.org/I131835042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038357011","display_name":"Niyazi Kaya","orcid":"https://orcid.org/0000-0002-5122-3824","observed_orcids":["https://orcid.org/0000-0002-5122-3824"]},"institutions":[{"id":"https://openalex.org/I131835042","display_name":"Bursa Uluda\u011f \u00dcni\u0307versi\u0307tesi\u0307","ror":"https://ror.org/03tg3eb07","country_code":"TR","type":"education","lineage":["https://openalex.org/I131835042"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Niyazi KAYA","raw_affiliation_strings":["Uludag University","Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Uludag University, Bursa, TURKEY","Department of Translational Medicine, Institute of Health Science, Uludag University, Bursa, TURKEY"],"raw_orcid":"https://orcid.org/0000-0002-5122-3824","affiliations":[{"raw_affiliation_string":"Uludag University","institution_ids":["https://openalex.org/I131835042"]},{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Uludag University, Bursa, TURKEY","institution_ids":["https://openalex.org/I131835042"]},{"raw_affiliation_string":"Department of Translational Medicine, Institute of Health Science, Uludag University, Bursa, TURKEY","institution_ids":["https://openalex.org/I131835042"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5020482170","display_name":"Elif Uz","orcid":"https://orcid.org/0000-0002-1459-5485","observed_orcids":["https://orcid.org/0000-0002-1459-5485"]},"institutions":[{"id":"https://openalex.org/I131835042","display_name":"Bursa Uluda\u011f \u00dcni\u0307versi\u0307tesi\u0307","ror":"https://ror.org/03tg3eb07","country_code":"TR","type":"education","lineage":["https://openalex.org/I131835042"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Elif UZ-YILDIRIM","raw_affiliation_strings":["Uludag University","Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Uludag University, Bursa, TURKEY","Department of Translational Medicine, Institute of Health Science, Uludag University, Bursa, TURKEY"],"raw_orcid":"https://orcid.org/0000-0002-1459-5485","affiliations":[{"raw_affiliation_string":"Uludag University","institution_ids":["https://openalex.org/I131835042"]},{"raw_affiliation_string":"Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Uludag University, Bursa, TURKEY","institution_ids":["https://openalex.org/I131835042"]},{"raw_affiliation_string":"Department of Translational Medicine, Institute of Health Science, Uludag University, Bursa, TURKEY","institution_ids":["https://openalex.org/I131835042"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5091812680"],"corresponding_institution_ids":["https://openalex.org/I131835042"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.09752835,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"7","issue":"3","first_page":"1931","last_page":"1946"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9990000128746033,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9990000128746033,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":9.999999747378752e-05,"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":9.999999747378752e-05,"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/tmco1","display_name":"TMCO1","score":0.9850000143051147},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.800000011920929},{"id":"https://openalex.org/keywords/single-nucleotide-variants","display_name":"single nucleotide variants","score":0.7580000162124634},{"id":"https://openalex.org/keywords/pathogenicity-prediction","display_name":"pathogenicity prediction","score":0.7620000243186951},{"id":"https://openalex.org/keywords/post-translational-modification","display_name":"post-translational modification","score":0.8190000057220459},{"id":"https://openalex.org/keywords/protein-binding-sites","display_name":"protein binding sites","score":0.7409999966621399},{"id":"https://openalex.org/keywords/regulatory-variants","display_name":"regulatory variants","score":0.5569999814033508},{"id":"https://openalex.org/keywords/primary-open-angle-glaucoma","display_name":"primary open-angle glaucoma","score":0.9819999933242798},{"id":"https://openalex.org/keywords/protein-structure","display_name":"protein structure","score":0.5270000100135803},{"id":"https://openalex.org/keywords/amino-acid-substitutions","display_name":"amino acid substitutions","score":0.5600000023841858}],"concepts":[{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.8586468696594238},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7471528053283691},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7451179027557373},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6791410446166992},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6341227889060974},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.5732704401016235},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5291476845741272},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.5040520429611206},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.48392802476882935}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.29130/dubited.571528","doi":"https://doi.org/10.29130/dubited.571528","is_oa":true,"landing_page_url":"https://doi.org/10.29130/dubited.571528","pdf_url":"https://dergipark.org.tr/en/download/article-file/771502","source":{"id":"https://openalex.org/S4210230135","display_name":"D\u00fczce \u00dcniversitesi Bilim ve Teknoloji Dergisi","issn_l":"2148-2446","issn":["2148-2446"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus","tr-dizin"],"host_organization":"https://openalex.org/P4310318352","host_organization_name":"D\u00fczce University","host_organization_lineage":["https://openalex.org/P4310318352"],"host_organization_lineage_names":["D\u00fczce University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"D\u00fczce \u00dcniversitesi Bilim ve Teknoloji Dergisi","raw_type":"journal-article"},{"id":"pmh:782b458f-d4f4-4699-9ce6-b95fe8385183","doi":null,"is_oa":false,"landing_page_url":"https://avesis.uludag.edu.tr/publication/details/782b458f-d4f4-4699-9ce6-b95fe8385183/oai","pdf_url":null,"source":{"id":"https://openalex.org/S7407055210","display_name":"Bursa Uludag University - AVESIS","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:dergipark.org.tr:article/571528","doi":null,"is_oa":false,"landing_page_url":"https://dergipark.org.tr/tr/pub/dubited/issue/46290/571528","pdf_url":null,"source":{"id":"https://openalex.org/S4306401840","display_name":"DergiPark (Istanbul University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67581229","host_organization_name":"Istanbul University","host_organization_lineage":["https://openalex.org/I67581229"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:9c0a433cf8b2461b894d9f6e25101725","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/9c0a433cf8b2461b894d9f6e25101725","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"D\u00fczce \u00dcniversitesi Bilim ve Teknoloji Dergisi, Vol 7, Iss 3, Pp 1931-1946 (2019)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.29130/dubited.571528","doi":"https://doi.org/10.29130/dubited.571528","is_oa":true,"landing_page_url":"https://doi.org/10.29130/dubited.571528","pdf_url":"https://dergipark.org.tr/en/download/article-file/771502","source":{"id":"https://openalex.org/S4210230135","display_name":"D\u00fczce \u00dcniversitesi Bilim ve Teknoloji Dergisi","issn_l":"2148-2446","issn":["2148-2446"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus","tr-dizin"],"host_organization":"https://openalex.org/P4310318352","host_organization_name":"D\u00fczce University","host_organization_lineage":["https://openalex.org/P4310318352"],"host_organization_lineage_names":["D\u00fczce University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"D\u00fczce \u00dcniversitesi Bilim ve Teknoloji Dergisi","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8560000061988831,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2972068303.pdf","grobid_xml":"https://content.openalex.org/works/W2972068303.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W1564417183","https://openalex.org/W1940766635","https://openalex.org/W1968210590","https://openalex.org/W1980740976","https://openalex.org/W1983990929","https://openalex.org/W1994066604","https://openalex.org/W1998186459","https://openalex.org/W1999143685","https://openalex.org/W2008887848","https://openalex.org/W2009541040","https://openalex.org/W2014530907","https://openalex.org/W2020488145","https://openalex.org/W2051978340","https://openalex.org/W2052202737","https://openalex.org/W2059145105","https://openalex.org/W2061403019","https://openalex.org/W2063714349","https://openalex.org/W2067194201","https://openalex.org/W2075077772","https://openalex.org/W2076357933","https://openalex.org/W2117491433","https://openalex.org/W2135502746","https://openalex.org/W2162336263","https://openalex.org/W2265638154","https://openalex.org/W2352710988","https://openalex.org/W2406096232","https://openalex.org/W2416319244","https://openalex.org/W2417138123","https://openalex.org/W2529361516","https://openalex.org/W2580887223","https://openalex.org/W2789573658","https://openalex.org/W2796709606","https://openalex.org/W2895728883","https://openalex.org/W2903581761","https://openalex.org/W2922029292","https://openalex.org/W2949886398"],"related_works":["https://openalex.org/W3162023920","https://openalex.org/W2014530907","https://openalex.org/W2903581761","https://openalex.org/W2945195980","https://openalex.org/W1998186459","https://openalex.org/W2796709606","https://openalex.org/W2061403019","https://openalex.org/W3097078469","https://openalex.org/W805282029","https://openalex.org/W4318015201"],"abstract_inverted_index":{"Transmembrane":[0],"and":[1,29,60,71,75,124,166,218],"Coiled-Coil":[2],"Domains":[3],"1":[4],"(TMCO1)":[5],"protein":[6,114,168],"is":[7],"encoded":[8],"by":[9],"TMCO1":[10,21,30,56,73,95,129,208],"gene":[11,57],"consists":[12],"of":[13,49,54,62,68,84,109,142,196,205],"7":[14],"exons.":[15],"Previous":[16],"studies":[17],"have":[18],"identified":[19,116,160],"multiple":[20],"variants":[22,59,74,88,135,209],"in":[23,93,120,125,144,164,198,220,231],"patients":[24],"with":[25,38,78],"cerebro-facio-thoracic":[26],"dysplasia":[27],"(CFTD)":[28],"locus":[31],"was":[32],"also":[33,184],"shown":[34],"to":[35,98,161,175,213,224,227],"be":[36,99,162,176,225],"associated":[37],"primary":[39],"open":[40],"angle":[41],"glaucoma":[42],"(POAG).":[43],"However,":[44],"there":[45],"are":[46,96],"limited":[47],"number":[48],"research":[50],"exist":[51],"reporting":[52],"associations":[53,77],"the":[55,63,66,69,85,94,107,202,206,214],"sequence":[58],"majority":[61],"findings":[64],"affirm":[65],"pathogenicity":[67],"nonsense":[70],"frameshift":[72],"their":[76,117,229],"clinical":[79],"phenotypes.":[80],"Thus":[81],"functional":[82,178,203],"properties":[83],"single":[86],"nucleotide":[87],"causing":[89],"amino":[90,110],"acid":[91,111],"changes":[92],"yet":[97,223],"comprehensively":[100],"elucidated.":[101],"In":[102],"this":[103],"study,":[104],"we":[105],"evaluated":[106],"effects":[108],"substitutions":[112],"on":[113,139],"structure,":[115],"putative":[118,177],"roles":[119],"post-translational":[121],"modifications":[122],"(PTM)":[123],"regulatory":[126,167,192],"mechanism":[127],"for":[128,189],"protein.":[130],"We":[131],"classified":[132],"41":[133,152],"missense":[134,207],"as":[136],"pathogenic":[137],"based":[138],"combined":[140],"scores":[141],"common":[143],"silico":[145,199],"tools":[146],"(SIFT,":[147],"MutationTaster2,":[148],"Polyphen2).":[149],"Of":[150],"these":[151],"variants,":[153],"four":[154],"(p.K211Q,":[155],"p.K105E,":[156],"p.S235F,":[157],"p.K237R)":[158],"were":[159,173],"located":[163],"PTMs":[165],"binding":[169],"sites;":[170],"thus":[171],"they":[172],"proposed":[174],"variants.":[179],"Moreover,":[180],"rs1387528611":[181],"(p.Lys128Gln)":[182],"had":[183],"strong":[185],"evidence":[186],"(RegulomeDB":[187],"score=2b)":[188],"its":[190],"possible":[191],"function.":[193],"The":[194],"results":[195],"our":[197],"analyses":[200],"highlight":[201],"importance":[204],"that":[210],"may":[211],"contribute":[212],"TMCO1-associated":[215],"disease":[216],"phenotypes":[217],"further":[219],"vivo":[221],"evaluation":[222],"needed":[226],"uncover":[228],"role":[230],"human":[232],"diseases.":[233]},"counts_by_year":[],"updated_date":"2026-09-21T07:43:02.447757","created_date":"2019-09-12T00:00:00"}
