PubMed:1710599 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/1710599","sourcedb":"PubMed","sourceid":"1710599","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/1710599","text":"Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.\nFive different mutations have been identified in the gene causing cystic fibrosis (CF) through sequencing regions encompassing exons 1-8, including the 5' untranslated leader. Two of these apparent mutations are missense mutations, one in exon 3 (Gly to Glu at position 85; G85E) and another in exon 5 (Gly to Arg at 178; G178R), both causing significant changes in the corresponding amino acids in the encoded protein--cystic fibrosis transmembrane conductance regulator (CFTR). Two others affect the highly conserved RNA splice junction flanking the 3' end of exons 4 and 5 (621 + 1G----T, 711 + 1G----T), resulting in a probable splicing defect. The last mutation is a single-basepair deletion in exon 4, causing a frameshift. These five mutations account for the 9 of 31 non-delta F508 CF chromosomes in our Canadian CF family collection and they are not found in any of the normal chromosomes. Three of the mutations, 621 + 1G----T, 711 + 1G----T, and G85E, are found in the French-Canadian population, with 621 + 1G----T being the most abundant (5/7). There are two other sequence variations in the CFTR gene; one of them (129G----C) is located 4 nucleotides upstream of the proposed translation initiation codon and, although present only on CF chromosomes, it is not clear whether it is a disease-causing mutation; the other (R75Q) is most likely a sequence variation within the coding region.","tracks":[{"project":"DisGeNET5_variant_disease","denotations":[{"id":"1710599-7#276#280#geners1800076","span":{"begin":1455,"end":1459},"obj":"geners1800076"},{"id":"1710599-7#191#193#diseaseC0010674","span":{"begin":1370,"end":1372},"obj":"diseaseC0010674"}],"relations":[{"id":"276#280#geners1800076191#193#diseaseC0010674","pred":"associated_with","subj":"1710599-7#276#280#geners1800076","obj":"1710599-7#191#193#diseaseC0010674"}],"attributes":[{"subj":"1710599-7#276#280#geners1800076","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"1710599-7#191#193#diseaseC0010674","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1710599-7#47#51#gene1080","span":{"begin":1226,"end":1230},"obj":"gene1080"},{"id":"1710599-7#191#193#diseaseC0010674","span":{"begin":1370,"end":1372},"obj":"diseaseC0010674"}],"relations":[{"id":"47#51#gene1080191#193#diseaseC0010674","pred":"associated_with","subj":"1710599-7#47#51#gene1080","obj":"1710599-7#191#193#diseaseC0010674"}],"attributes":[{"subj":"1710599-7#47#51#gene1080","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"1710599-7#191#193#diseaseC0010674","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET5_variant_disease","color":"#ecca93","default":true},{"id":"DisGeNET5_gene_disease","color":"#b093ec"}]}]}}