{"id":"https://openalex.org/W2990867680","doi":"https://doi.org/10.1101/853085","title":"Insilico Analysis Reveal Three novel nsSNPs May effect on GM2A protein Leading to AB variant of GM2 gangliosidosis","display_name":"Insilico Analysis Reveal Three novel nsSNPs May effect on GM2A protein Leading to AB variant of GM2 gangliosidosis","publication_year":2019,"publication_date":"2019-11-25","ids":{"openalex":"https://openalex.org/W2990867680","doi":"https://doi.org/10.1101/853085","mag":"2990867680"},"language":"en","primary_location":{"id":"doi:10.1101/853085","doi":"https://doi.org/10.1101/853085","is_oa":true,"landing_page_url":"https://doi.org/10.1101/853085","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2019/11/25/853085.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.biorxiv.org/content/biorxiv/early/2019/11/25/853085.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5031899443","display_name":"Tebyan A. Abdelhameed","orcid":"https://orcid.org/0000-0001-8056-6140","observed_orcids":["https://orcid.org/0000-0001-8056-6140"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Tebyan A. Abdelhameed","raw_affiliation_strings":["Department of biotechnology, Africa City of Technology-Khartoum, Sudan"],"raw_orcid":"https://orcid.org/0000-0001-8056-6140","affiliations":[{"raw_affiliation_string":"Department of biotechnology, Africa City of Technology-Khartoum, Sudan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069282067","display_name":"Mujahed I. Mustafa","orcid":"https://orcid.org/0000-0001-6893-0536","observed_orcids":["https://orcid.org/0000-0001-6893-0536"]},"institutions":[{"id":"https://openalex.org/I4210148209","display_name":"University of Bahri","ror":"https://ror.org/05jds5x60","country_code":"SD","type":"education","lineage":["https://openalex.org/I4210148209"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Mujahed I. Mustafa","raw_affiliation_strings":["Department of Biochemistry, University of Bahri-Khartoum, Sudan","Department of biotechnology, Africa City of Technology-Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, University of Bahri-Khartoum, Sudan","institution_ids":["https://openalex.org/I4210148209"]},{"raw_affiliation_string":"Department of biotechnology, Africa City of Technology-Khartoum, Sudan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065996345","display_name":"Dina N. Abdelrahman","orcid":"https://orcid.org/0000-0003-3056-1004","observed_orcids":["https://orcid.org/0000-0003-3056-1004"]},"institutions":[{"id":"https://openalex.org/I4210091707","display_name":"Ministry of Higher Education And Scientific Research","ror":"https://ror.org/00hzjh992","country_code":"SD","type":"government","lineage":["https://openalex.org/I4210091707"]}],"countries":["SD"],"is_corresponding":false,"raw_author_name":"Dina N. Abdelrahman","raw_affiliation_strings":["Central laboratory, Ministry of Higher education and scientific research-Khartoum, Sudan","Department of biotechnology, Africa City of Technology-Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Central laboratory, Ministry of Higher education and scientific research-Khartoum, Sudan","institution_ids":["https://openalex.org/I4210091707"]},{"raw_affiliation_string":"Department of biotechnology, Africa City of Technology-Khartoum, Sudan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053606018","display_name":"Fatima A. Abdelrhman","orcid":"https://orcid.org/0000-0003-3631-6341","observed_orcids":["https://orcid.org/0000-0003-3631-6341"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fatima A. Abdelrhman","raw_affiliation_strings":["Department of biotechnology, Africa City of Technology-Khartoum, Sudan"],"raw_orcid":"https://orcid.org/0000-0003-3631-6341","affiliations":[{"raw_affiliation_string":"Department of biotechnology, Africa City of Technology-Khartoum, Sudan","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028177231","display_name":"Mohamed Ahmed Salih Hassan","orcid":"https://orcid.org/0000-0001-6962-5111","observed_orcids":["https://orcid.org/0000-0001-6962-5111"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mohamed A. Hassan","raw_affiliation_strings":["Department of biotechnology, Africa City of Technology-Khartoum, Sudan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of biotechnology, Africa City of Technology-Khartoum, Sudan","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5031899443"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9839000105857849,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9839000105857849,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.006300000008195639,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.004699999932199717,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/gm2-activator-protein","display_name":"GM2 activator protein","score":0.8009999990463257},{"id":"https://openalex.org/keywords/nonsynonymous-snps","display_name":"non-synonymous SNPs","score":0.8140000104904175},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6890000104904175},{"id":"https://openalex.org/keywords/microrna-binding-sites","display_name":"microRNA binding sites","score":0.7170000076293945},{"id":"https://openalex.org/keywords/3-untranslated-region","display_name":"3' untranslated region","score":0.871999979019165},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.7059999704360962},{"id":"https://openalex.org/keywords/neurodegenerative-diseases","display_name":"neurodegenerative diseases","score":0.7289999723434448}],"concepts":[{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.8323320150375366},{"id":"https://openalex.org/C2777878887","wikidata":"https://www.wikidata.org/wiki/Q1493513","display_name":"Gangliosidosis","level":3,"score":0.5862054824829102},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5142011642456055},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.501591682434082},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4515605568885803},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4424525201320648},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.38233715295791626},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.15840661525726318},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.06573203206062317},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1101/853085","doi":"https://doi.org/10.1101/853085","is_oa":true,"landing_page_url":"https://doi.org/10.1101/853085","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2019/11/25/853085.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.1101/853085","doi":"https://doi.org/10.1101/853085","is_oa":true,"landing_page_url":"https://doi.org/10.1101/853085","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2019/11/25/853085.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"score":0.8560000061988831,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2990867680.pdf","grobid_xml":"https://content.openalex.org/works/W2990867680.grobid-xml"},"referenced_works_count":45,"referenced_works":["https://openalex.org/W318460161","https://openalex.org/W605584143","https://openalex.org/W1500868261","https://openalex.org/W1683278196","https://openalex.org/W1689168873","https://openalex.org/W1971835681","https://openalex.org/W1981264193","https://openalex.org/W1983151598","https://openalex.org/W1984560166","https://openalex.org/W1985213868","https://openalex.org/W1986357326","https://openalex.org/W1993912261","https://openalex.org/W2004667886","https://openalex.org/W2014276342","https://openalex.org/W2021126020","https://openalex.org/W2027018085","https://openalex.org/W2028871751","https://openalex.org/W2033397985","https://openalex.org/W2034936255","https://openalex.org/W2039566947","https://openalex.org/W2054070927","https://openalex.org/W2059145105","https://openalex.org/W2059958362","https://openalex.org/W2060652930","https://openalex.org/W2063852641","https://openalex.org/W2083112747","https://openalex.org/W2088140119","https://openalex.org/W2089335658","https://openalex.org/W2089486887","https://openalex.org/W2112480941","https://openalex.org/W2132629607","https://openalex.org/W2136513422","https://openalex.org/W2137886330","https://openalex.org/W2147533449","https://openalex.org/W2149175595","https://openalex.org/W2398165923","https://openalex.org/W2410760433","https://openalex.org/W2413390034","https://openalex.org/W2474593271","https://openalex.org/W2588300616","https://openalex.org/W2604266621","https://openalex.org/W2609082695","https://openalex.org/W2747448222","https://openalex.org/W4229891301","https://openalex.org/W4246954632"],"related_works":["https://openalex.org/W2588300616","https://openalex.org/W1992746226","https://openalex.org/W2089486887","https://openalex.org/W1500868261","https://openalex.org/W2206061332","https://openalex.org/W4289837249","https://openalex.org/W2077909420","https://openalex.org/W4389200714","https://openalex.org/W2054070927","https://openalex.org/W4241770557"],"abstract_inverted_index":{"ABSTRACT":[0],"Background":[1],"AB":[2,166],"variant":[3,167],"of":[4,11,35,68,77,95,115,127,152,168,179],"GM2":[5,14,78,169],"gangliosidosis":[6,170],"caused":[7],"as":[8,23,161],"a":[9],"result":[10],"mutations":[12,83],"in":[13,164,174],"activator":[15],"gene":[16,37],"(":[17],"GM2A":[18,97,116],")":[19],"which":[20,118],"is":[21],"regarded":[22],"neurodegenerative":[24],"disorder.":[25],"This":[26],"study":[27],"aimed":[28],"to":[29,86,90,104,141,149],"predict":[30],"the":[31,42,52,66,91,96,153,180],"possible":[32],"damaging":[33,89,107],"SNPs":[34,49,101,108,131,138,157],"this":[36],"and":[38,75,93,113,124,134,171,176],"their":[39],"impact":[40],"on":[41,72,146],"protein":[43],"using":[44,57],"different":[45,62],"bioinformatics":[46,59],"tools.":[47,60],"Methods":[48],"retrieved":[50],"from":[51],"NCBI":[53],"database":[54],"were":[55,84,102,139],"analyzed":[56],"several":[58],"The":[61],"tools":[63],"collectively":[64],"predicted":[65,140],"effect":[67],"single":[69],"nucleotide":[70],"substitution":[71],"both":[73],"structure":[74,92,112],"function":[76,94],"activator.":[79],"Results":[80],"Three":[81],"novel":[82,130],"found":[85,103],"be":[87,105,159],"highly":[88,106],"gene.":[98],"Conclusion":[99],"Four":[100],"that":[109],"affect":[110,142],"function,":[111],"stability":[114],"protein,":[117],"they":[119],"are:":[120],"C99Y,":[121],"C112F,":[122],"C138S":[123],"C138R,":[125],"three":[126],"them":[128],"are":[129],"(C99Y,":[132],"C112F":[133],"C138S).":[135],"Also":[136],"46":[137],"miRNAs":[143],"binding":[144],"sites":[145],"3\u2019UTR":[147],"leading":[148],"abnormal":[150],"expression":[151],"resulting":[154],"protein.":[155],"These":[156],"should":[158],"considered":[160],"important":[162],"candidates":[163],"causing":[165],"may":[172],"help":[173],"diagnosis":[175],"genetic":[177],"screening":[178],"disease.":[181]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2019-12-05T00:00:00"}