ABCC1 p.Val1164Ile
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PMID: 17329911
[PubMed]
Fukushima-Uesaka H et al: "Genetic variations and haplotype structures of the ABC transporter gene ABCC1 in a Japanese population."
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Sentence
Comment
11
Of these, eight novel nonsynonymous variations, 726GÀT (Trp242Cys), 1199TÀC (Ile400Thr), 1967GÀC (Ser656Thr), 2530GÀA (Gly844Ser), 3490GÀA (Val1164Ile), 3550GÀA (Glu1184Lys), 3901CÀT (Arg1301Cys), and 4502AÀG (Asp1501Gly), were detected with an allele frequency of 0.003.
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ABCC1 p.Val1164Ile 17329911:11:165
status: NEW62 Eight novel nonsynonymous variations, 726GÀT (Trp242Cys), 1199TÀC (Ile400Thr), 1967GÀC (Ser656Thr), 2530GÀA (Gly844Ser), 3490GÀA (Val1164Ile), 3550GÀA (Glu1184Lys), 3901CÀT (Arg1301Cys), and 4502AÀG (Asp1501Gly), were found heterozygously in dierent subjects with an allele frequency of 0.003.
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ABCC1 p.Val1164Ile 17329911:62:155
status: NEW65 Both Val1164Ile and Glu1184Lys resided in the loop between TM15 and TM16.
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ABCC1 p.Val1164Ile 17329911:65:5
status: NEW120 As for Block 3 (Table 5), the haplotypes with 3550GÀA (Glu1184Lys), 3901CÀT (Arg1301Cys), 3490GÀA (Val1164Ile) and 3173GÀA (Arg1058Gln) were dened as *2, *3, *4 and *5, respectively.
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ABCC1 p.Val1164Ile 17329911:120:114
status: NEW124 In addition, the variations 3550GÀA (Glu1184Lys, *2), 3901CÀT (Arg1301Cys, *3), 3490GÀA (Val1164Ile, *4) and 3173GÀA (Arg1058Gln, *5) could be included in the Block 3 htSNPs.
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ABCC1 p.Val1164Ile 17329911:124:104
status: NEW