PubMed:11983712 / 719-1094 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/11983712","sourcedb":"PubMed","sourceid":"11983712","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/11983712","text":"We have characterized cDNA corresponding to the human ortholog of the yeast gene ALG12 that encodes the dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl alpha6-mannosyltransferase that is thought to accomplish this reaction, and we show that the patient is homozygous for a point mutation (T571G) that causes an amino acid substitution (F142V) in a conserved region of the protein.","tracks":[{"project":"ggdb-test","denotations":[{"id":"T1","span":{"begin":81,"end":86},"obj":"https://acgg.asia/db/ggdb/info/gg151"}],"attributes":[{"subj":"T1","pred":"source","obj":"ggdb-test"}]},{"project":"GGDB-2020","denotations":[{"id":"T1","span":{"begin":81,"end":86},"obj":"https://acgg.asia/db/ggdb/info/gg151"}],"attributes":[{"subj":"T1","pred":"source","obj":"GGDB-2020"}]},{"project":"sentences","denotations":[{"id":"T5","span":{"begin":0,"end":375},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"T5","pred":"source","obj":"sentences"}]},{"project":"glycogenes","denotations":[{"id":"PD-GlycoGenes20190927-B_T1","span":{"begin":81,"end":86},"obj":"https://acgg.asia/db/ggdb/info/gg151"}],"attributes":[{"subj":"PD-GlycoGenes20190927-B_T1","pred":"source","obj":"glycogenes"}]},{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T1","span":{"begin":125,"end":131},"obj":"chem:24139"}],"namespaces":[{"prefix":"hgnc","uri":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:"},{"prefix":"omim","uri":"https://www.omim.org/entry/"},{"prefix":"chem","uri":"https://pubchem.ncbi.nlm.nih.gov/compound/"}],"attributes":[{"subj":"PD-NGLY1-deficiency-B_T1","pred":"source","obj":"NGLY1-deficiency"}]},{"project":"NCBITAXON","denotations":[{"id":"T2","span":{"begin":48,"end":53},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":240,"end":247},"obj":"OrganismTaxon"}],"attributes":[{"id":"A2","pred":"db_id","subj":"T2","obj":"9606"},{"id":"A3","pred":"db_id","subj":"T3","obj":"9606"},{"subj":"T2","pred":"source","obj":"NCBITAXON"},{"subj":"T3","pred":"source","obj":"NCBITAXON"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"ggdb-test","color":"#93ecb2","default":true},{"id":"GGDB-2020","color":"#ec9893"},{"id":"sentences","color":"#93a7ec"},{"id":"glycogenes","color":"#c1ec93"},{"id":"NGLY1-deficiency","color":"#ec93db"},{"id":"NCBITAXON","color":"#93ece3"}]}]}}