PubMed:15064320 / 781-1013
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/15064320","sourcedb":"PubMed","sourceid":"15064320","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/15064320","text":"1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q).","tracks":[{"project":"PubTator4TogoVar","denotations":[{"id":"15064320_0","span":{"begin":190,"end":223},"obj":"ProteinMutation"},{"id":"15064320_1","span":{"begin":225,"end":230},"obj":"ProteinMutation"}],"attributes":[{"id":"15064320_0_ProteinMutation","pred":"proteinmutation","subj":"15064320_0","obj":"rs9332964"},{"id":"15064320_1_ProteinMutation","pred":"proteinmutation","subj":"15064320_1","obj":"rs9332964"},{"subj":"15064320_0","pred":"source","obj":"PubTator4TogoVar"},{"subj":"15064320_1","pred":"source","obj":"PubTator4TogoVar"}]},{"project":"LitCoin-entities","denotations":[{"id":"640","span":{"begin":5,"end":79},"obj":"SequenceVariant"},{"id":"641","span":{"begin":148,"end":178},"obj":"SequenceVariant"},{"id":"642","span":{"begin":190,"end":223},"obj":"SequenceVariant"},{"id":"643","span":{"begin":225,"end":230},"obj":"SequenceVariant"}],"attributes":[{"id":"A21","pred":"db_id","subj":"640","obj":"c|DEL|CODON219|T"},{"id":"A22","pred":"db_id","subj":"641","obj":"DBSNP:rs9332964"},{"id":"A23","pred":"db_id","subj":"642","obj":"DBSNP:rs9332964"},{"id":"A24","pred":"db_id","subj":"643","obj":"DBSNP:rs9332964"},{"subj":"640","pred":"source","obj":"LitCoin-entities"},{"subj":"641","pred":"source","obj":"LitCoin-entities"},{"subj":"642","pred":"source","obj":"LitCoin-entities"},{"subj":"643","pred":"source","obj":"LitCoin-entities"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}]},{"project":"LitCoin-sentences","denotations":[{"id":"T7","span":{"begin":0,"end":232},"obj":"Sentence"}],"attributes":[{"subj":"T7","pred":"source","obj":"LitCoin-sentences"}]},{"project":"LitCoin-entities-OrganismTaxon-PD","denotations":[{"id":"T2","span":{"begin":70,"end":75},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":111,"end":116},"obj":"OrganismTaxon"}],"attributes":[{"id":"A2","pred":"db_id","subj":"T2","obj":"NCBItxid:79338"},{"id":"A3","pred":"db_id","subj":"T3","obj":"NCBItxid:79338"},{"subj":"T2","pred":"source","obj":"LitCoin-entities-OrganismTaxon-PD"},{"subj":"T3","pred":"source","obj":"LitCoin-entities-OrganismTaxon-PD"}]},{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":225,"end":230},"obj":"SequenceVariant"}],"attributes":[{"subj":"T1","pred":"source","obj":"LitCoin-SeqVar"}]},{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T23","span":{"begin":34,"end":42},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":56,"end":64},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":81,"end":86},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":90,"end":98},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":99,"end":107},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":179,"end":187},"obj":"GeneOrGeneProduct"},{"id":"T29","span":{"begin":190,"end":199},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T23","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T24","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T25","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T26","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T27","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T28","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T29","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"}]},{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T13","span":{"begin":190,"end":199},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T13","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"}]},{"project":"LitCoin_Mondo_095","denotations":[{"id":"T2","span":{"begin":174,"end":177},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0011921"},{"subj":"T2","pred":"source","obj":"LitCoin_Mondo_095"}]},{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T8","span":{"begin":148,"end":155},"obj":"ChemicalEntity"},{"id":"T10","span":{"begin":165,"end":172},"obj":"ChemicalEntity"},{"id":"T12","span":{"begin":174,"end":177},"obj":"ChemicalEntity"},{"id":"T13","span":{"begin":190,"end":199},"obj":"ChemicalEntity"},{"id":"T14","span":{"begin":215,"end":223},"obj":"ChemicalEntity"}],"attributes":[{"id":"A8","pred":"ID:","subj":"T8","obj":"D006147"},{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_16235"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D000225"},{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_16708"},{"id":"A12","pred":"ID:","subj":"T12","obj":"http://purl.obolibrary.org/obo/CHEBI_27869"},{"id":"A13","pred":"ID:","subj":"T13","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A14","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A15","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A16","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"subj":"T8","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"},{"subj":"T10","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"},{"subj":"T12","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"},{"subj":"T13","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"},{"subj":"T14","pred":"source","obj":"LitCoin-Chemical-MeSH-CHEBI"}]},{"project":"LitCoin-training-merged","denotations":[{"id":"T14","span":{"begin":215,"end":223},"obj":"ChemicalEntity"},{"id":"T13","span":{"begin":190,"end":199},"obj":"ChemicalEntity"},{"id":"T12","span":{"begin":174,"end":177},"obj":"ChemicalEntity"},{"id":"T10","span":{"begin":165,"end":172},"obj":"ChemicalEntity"},{"id":"T8","span":{"begin":148,"end":155},"obj":"ChemicalEntity"},{"id":"T9443","span":{"begin":225,"end":230},"obj":"SequenceVariant"}],"attributes":[{"id":"A16","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A15","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A14","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A13","pred":"ID:","subj":"T13","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A12","pred":"ID:","subj":"T12","obj":"http://purl.obolibrary.org/obo/CHEBI_27869"},{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_16708"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D000225"},{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_16235"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D006147"},{"subj":"T14","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T13","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T12","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T10","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T8","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T9443","pred":"source","obj":"LitCoin-training-merged"}]},{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":225,"end":230},"obj":"ProteinMutation:p|SUB|R|227|Q"}],"attributes":[{"subj":"T1","pred":"source","obj":"tmVarCorpus"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubTator4TogoVar","color":"#b793ec","default":true},{"id":"LitCoin-entities","color":"#93ec9d"},{"id":"LitCoin-sentences","color":"#ec93a3"},{"id":"LitCoin-entities-OrganismTaxon-PD","color":"#93bdec"},{"id":"LitCoin-SeqVar","color":"#d7ec93"},{"id":"LitCoin-GeneOrGeneProduct-v0","color":"#e793ec"},{"id":"LitCoin-GeneOrGeneProduct-v2","color":"#93eccd"},{"id":"LitCoin_Mondo_095","color":"#ecb393"},{"id":"LitCoin-Chemical-MeSH-CHEBI","color":"#9993ec"},{"id":"LitCoin-training-merged","color":"#a6ec93"},{"id":"tmVarCorpus","color":"#ec93c1"}]}]}}