ABCC1 p.Gly844Ser
| Predicted by SNAP2: | A: D (75%), C: D (75%), D: D (91%), E: D (85%), F: D (91%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: D (85%), N: D (75%), P: D (91%), Q: D (80%), R: D (85%), S: D (66%), T: D (80%), V: D (85%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Genetic variations and haplotype structures of the... Drug Metab Pharmacokinet. 2007 Feb 25;22(1):48-60. Fukushima-Uesaka H, Saito Y, Tohkin M, Maekawa K, Hasegawa R, Kawamoto M, Kamatani N, Suzuki K, Yanagawa T, Kajio H, Kuzuya N, Yasuda K, Sawada J
Genetic variations and haplotype structures of the ABC transporter gene ABCC1 in a Japanese population.
Drug Metab Pharmacokinet. 2007 Feb 25;22(1):48-60., 2007-02-25 [PMID:17329911]
Abstract [show]
Multidrug resistance-related protein 1 (MRP1), an ATP-binding cassette transporter encoded by the ABCC1 gene, is expressed in many tissues, and functions as an efflux transporter for glutathione-, glucuronate- and sulfate-conjugates as well as unconjugated substrates. In this study, the 31 exons and their flanking introns of ABCC1 were comprehensively screened for genetic variations in 153 Japanese subjects to elucidate the linkage disequilibrium (LD) profiles and haplotype structures of ABCC1 that is necessary for pharmacogenetic studies of the substrate drugs. Eighty-six genetic variations including 31 novel ones were found: 1 in the 5'-flanking region, 1 in the 5'-untranslated region (UTR), 20 in the coding exons (9 synonymous and 11 nonsynonymous variations), 4 in the 3'-UTR, and 60 in the introns. Of these, eight novel nonsynonymous variations, 726G>T (Trp242Cys), 1199T>C (Ile400Thr), 1967G>C (Ser656Thr), 2530G>A (Gly844Ser), 3490G>A (Val1164Ile), 3550G>A (Glu1184Lys), 3901C>T (Arg1301Cys), and 4502A>G (Asp1501Gly), were detected with an allele frequency of 0.003. Based on the LD profiles, the analyzed regions of the gene were divided into five LD blocks (Blocks -1 and 1 to 4). The multiallelic repeat polymorphism in the 5'-UTR was defined as Block -1. For Blocks 1, 2, 3 and 4, 32, 23, 23 and 13 haplotypes were inferred, and 9, 7, 7 and 6 haplotypes commonly found on > or = 10 chromosomes accounted for > or = 91% of the inferred haplotypes in each block. Haplotype-tagging single nucleotide polymorphisms for each block were identified to capture the common haplotypes. This study would provide fundamental and useful information for the pharmacogenetic studies of MRP1-dependently effluxed drugs in Japanese.
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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