PMC:4528928 / 306-990 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4528928","sourcedb":"PMC","sourceid":"4528928","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4528928","text":"Mismatch repair prevents the accumulation of erroneous insertions/deletions and non-Watson–Crick base pairs in the genome. Pathogenic mutations in the MLH1 gene are associated with a predisposition to Lynch and Turcot’s syndromes. Although genetic testing for these mutations is available, robust classification of variants requires strong clinical and functional support. Here, the first structure of the N-terminus of human MLH1, determined by X-ray crystallography, is described. The structure shares a high degree of similarity with previously determined prokaryotic MLH1 homologs; however, this structure affords a more accurate platform for the classification of MLH1 variants.\n","tracks":[{"project":"Biotea","denotations":[{"id":"T2","span":{"begin":389,"end":398},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41186"},{"id":"T3","span":{"begin":487,"end":496},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41186"},{"id":"T4","span":{"begin":600,"end":609},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41186"},{"id":"T6","span":{"begin":420,"end":425},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14225"},{"id":"T8","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T10","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T12","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T14","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T16","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T18","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T20","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T22","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T24","span":{"begin":420,"end":425},"obj":"http://purl.bioontology.org/ontology/STY/T016"},{"id":"T26","span":{"begin":420,"end":425},"obj":"http://purl.obolibrary.org/obo/NCBITaxon_9606"},{"id":"T28","span":{"begin":420,"end":425},"obj":"http://purl.obolibrary.org/obo/NCBITaxon_9606"},{"id":"T30","span":{"begin":151,"end":155},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21464"},{"id":"T31","span":{"begin":426,"end":430},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21464"},{"id":"T32","span":{"begin":571,"end":575},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21464"},{"id":"T33","span":{"begin":669,"end":673},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21464"},{"id":"T35","span":{"begin":151,"end":160},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18482"},{"id":"T36","span":{"begin":151,"end":155},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18482"},{"id":"T37","span":{"begin":426,"end":430},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18482"},{"id":"T38","span":{"begin":571,"end":575},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18482"},{"id":"T39","span":{"begin":669,"end":673},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18482"},{"id":"T41","span":{"begin":151,"end":155},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C139094"},{"id":"T42","span":{"begin":426,"end":430},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C139094"},{"id":"T43","span":{"begin":571,"end":575},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C139094"},{"id":"T44","span":{"begin":669,"end":673},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C139094"},{"id":"T46","span":{"begin":151,"end":155},"obj":"http://purl.obolibrary.org/obo/PR_000010442"},{"id":"T47","span":{"begin":426,"end":430},"obj":"http://purl.obolibrary.org/obo/PR_000010442"},{"id":"T48","span":{"begin":571,"end":575},"obj":"http://purl.obolibrary.org/obo/PR_000010442"},{"id":"T49","span":{"begin":669,"end":673},"obj":"http://purl.obolibrary.org/obo/PR_000010442"},{"id":"T51","span":{"begin":183,"end":197},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16505"},{"id":"T57","span":{"begin":0,"end":15},"obj":"http://purl.bioontology.org/ontology/MESH/D053843"},{"id":"T58","span":{"begin":0,"end":15},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C91471"},{"id":"T59","span":{"begin":0,"end":15},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20639"},{"id":"T60","span":{"begin":0,"end":15},"obj":"http://purl.obolibrary.org/obo/GO_0006298"},{"id":"T61","span":{"begin":0,"end":8},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C67078"},{"id":"T62","span":{"begin":9,"end":15},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/4365001"},{"id":"T63","span":{"begin":9,"end":15},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53611"},{"id":"T64","span":{"begin":9,"end":15},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/257903006"},{"id":"T65","span":{"begin":16,"end":24},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/116699007"},{"id":"T66","span":{"begin":29,"end":41},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120860"},{"id":"T67","span":{"begin":45,"end":54},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/900000000000485001"},{"id":"T68","span":{"begin":80,"end":84},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25594"},{"id":"T69","span":{"begin":97,"end":107},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132477"},{"id":"T70","span":{"begin":97,"end":107},"obj":"http://purl.bioontology.org/ontology/MESH/D020029"},{"id":"T71","span":{"begin"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