PubMed:15618753 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/15618753","sourcedb":"PubMed","sourceid":"15618753","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/15618753","text":"Two novel single nucleotide polymorphisms (SNPs) of the FMO3 gene in Japanese.\nWe sequenced all exons and exon-intron junctions of the flavin-containing monooxygenase 3 (FMO3) gene from 27 Japanese individuals who are trimethylaminuria volunteers judged by self-reported analysis. We found two novel single nucleotide polymorphisms (SNPs) (21246 T\u003eA and 21265 C\u003eT) causing amino acid substitutions (Asp(198)Glu and Arg(205)Cys in exon 5), respectively. The Asp(198)Glu allele also presented together with known SNPs (20852 C\u003eT in exon4, 20960_20962 CTT deletion, 21115 G\u003eA in intron 4, and 21243_21244 TG deletion in exon 5) in the same allele of the FMO3 gene to form a novel haplotype. These sequences are as follows:1) SNP, 030609Fujieda019; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5'-TTCGGGCTG(TG/-)AT/AATTGCCACAGAA-3'.2) SNP, 030609Fujieda020; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5'-ACAGAACTCAGCC/TGCACAGCAGAAC-3'.","tracks":[{"project":"PubTator4TogoVar","denotations":[{"id":"15618753_0","span":{"begin":399,"end":410},"obj":"ProteinMutation"},{"id":"15618753_1","span":{"begin":415,"end":426},"obj":"ProteinMutation"},{"id":"15618753_2","span":{"begin":457,"end":468},"obj":"ProteinMutation"}],"attributes":[{"id":"15618753_0_ProteinMutation","pred":"proteinmutation","subj":"15618753_0","obj":"rs529940450"},{"id":"15618753_1_ProteinMutation","pred":"proteinmutation","subj":"15618753_1","obj":"rs28363549"},{"id":"15618753_2_ProteinMutation","pred":"proteinmutation","subj":"15618753_2","obj":"rs529940450"},{"subj":"15618753_0","pred":"source","obj":"PubTator4TogoVar"},{"subj":"15618753_1","pred":"source","obj":"PubTator4TogoVar"},{"subj":"15618753_2","pred":"source","obj":"PubTator4TogoVar"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubTator4TogoVar","color":"#93ecc1","default":true}]}]}}