PubMed:11577372 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/11577372","sourcedb":"PubMed","sourceid":"11577372","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/11577372","text":"Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.\nCongenital cataracts are an important cause of bilateral visual impairment in infants. In a four-generation family of English descent, we mapped dominant congenital posterior polar cataract to chromosome 11q22-q22.3. The maximum LOD score, 3.92 at recombination fraction 0, was obtained for marker D11S898, near the gene that encodes crystallin alpha-B protein (CRYAB). By sequencing the coding regions of CRYAB, we found in exon 3 a deletion mutation, 450delA, that is associated with cataract in this family. The mutation resulted in a frameshift in codon 150 and produced an aberrant protein consisting of 184 residues. This is the first report of a mutation, in this gene, resulting in isolated congenital cataract.","tracks":[{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":84,"end":92},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":161,"end":178},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":285,"end":293},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":590,"end":598},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":814,"end":822},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0005129"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0001941"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0005129"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0005129"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0005129"},{"subj":"T1","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T2","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T3","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T4","pred":"source","obj":"PMID_GLOBAL"},{"subj":"T5","pred":"source","obj":"PMID_GLOBAL"}]},{"project":"FSU-PRGE","denotations":[{"id":"T1","span":{"begin":0,"end":18},"obj":"protein"},{"id":"T2","span":{"begin":25,"end":30},"obj":"protein"},{"id":"T3","span":{"begin":438,"end":456},"obj":"protein"},{"id":"T4","span":{"begin":466,"end":471},"obj":"protein"},{"id":"T5","span":{"begin":510,"end":515},"obj":"protein"}],"attributes":[{"subj":"T1","pred":"source","obj":"FSU-PRGE"},{"subj":"T2","pred":"source","obj":"FSU-PRGE"},{"subj":"T3","pred":"source","obj":"FSU-PRGE"},{"subj":"T4","pred":"source","obj":"FSU-PRGE"},{"subj":"T5","pred":"source","obj":"FSU-PRGE"}]},{"project":"PIR-corpus2","denotations":[{"id":"T1","span":{"begin":0,"end":18},"obj":"protein"},{"id":"T2","span":{"begin":25,"end":30},"obj":"protein"},{"id":"T3","span":{"begin":438,"end":464},"obj":"protein"},{"id":"T4","span":{"begin":510,"end":515},"obj":"protein"}],"attributes":[{"subj":"T1","pred":"source","obj":"PIR-corpus2"},{"subj":"T2","pred":"source","obj":"PIR-corpus2"},{"subj":"T3","pred":"source","obj":"PIR-corpus2"},{"subj":"T4","pred":"source","obj":"PIR-corpus2"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11577372-0#0#18#gene1410","span":{"begin":0,"end":18},"obj":"gene1410"},{"id":"11577372-0#57#92#diseaseC0344522","span":{"begin":57,"end":92},"obj":"diseaseC0344522"}],"relations":[{"id":"0#18#gene141057#92#diseaseC0344522","pred":"associated_with","subj":"11577372-0#0#18#gene1410","obj":"11577372-0#57#92#diseaseC0344522"}],"attributes":[{"subj":"11577372-0#0#18#gene1410","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"11577372-0#57#92#diseaseC0344522","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"PIR-corpus1","denotations":[{"id":"T1","span":{"begin":438,"end":464},"obj":"protein"},{"id":"T2","span":{"begin":466,"end":471},"obj":"acronym"},{"id":"T3","span":{"begin":510,"end":515},"obj":"protein"},{"id":"T4","span":{"begin":691,"end":698},"obj":"protein"}],"attributes":[{"subj":"T1","pred":"source","obj":"PIR-corpus1"},{"subj":"T2","pred":"source","obj":"PIR-corpus1"},{"subj":"T3","pred":"source","obj":"PIR-corpus1"},{"subj":"T4","pred":"source","obj":"PIR-corpus1"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":0,"end":18},"obj":"gene:1410"},{"id":"T1","span":{"begin":57,"end":92},"obj":"disease:C0344522"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PMID_GLOBAL","color":"#c293ec","default":true},{"id":"FSU-PRGE","color":"#93eca8"},{"id":"PIR-corpus2","color":"#ec9397"},{"id":"DisGeNET5_gene_disease","color":"#93b1ec"},{"id":"PIR-corpus1","color":"#cbec93"},{"id":"DisGeNET","color":"#ec93e5"}]}]}}