ABCC1 p.Gly844Ser
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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.Gly844Ser 17329911:11:139
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.Gly844Ser 17329911:62:129
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.Gly844Ser 17329911:64:14
status: NEW67 Using PolyPhen program (http:WWwww.bork.embl-heider- berg.deWPolyPhen) to predict the functional eects of amino acid substitutions, two substitutions, Trp242Cys and Gly844Ser, were expected to alter the protein function based on the PSIC (position specic independent count) prole score dierences derived from multiple alignments.
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ABCC1 p.Gly844Ser 17329911:67:171
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.Gly844Ser 17329911:115:154
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.Gly844Ser 17329911:119:97
status: NEW