ABCC1 p.Ser656Thr
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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."
No.
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.Ser656Thr 17329911:11:113
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.Ser656Thr 17329911:62:103
status: NEW64 Ser656Thr and Gly844Ser were found 22 residues upstream of the Walker A motif and 52 residues downstream of the Walker B motif in the nucleotide binding domain 1 in the loop between TM11 and TM12, respectively.
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ABCC1 p.Ser656Thr 17329911:64:0
status: NEW115 The *2 to *4 haplotypes were dened by the nonsynonymous variations, 2168GÀA (Arg723Gln) (*2), 1967GÀC (Ser656Thr) (*3), and 2530GÀA (Gly844Ser) (*4).
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ABCC1 p.Ser656Thr 17329911:115:119
status: NEW119 In addition to them, 2 nonsynonymous variations, 1967GÀC (Ser656Thr) (*3) and 2530GÀA (Gly844Ser) (*4), may be added to the htSNPs for Block2.
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ABCC1 p.Ser656Thr 17329911:119:63
status: NEW