ABCMdb

ABCC1 p.Trp242Cys

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Publications

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. Login to comment
62 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. Login to comment
63 All substituted amino acids were located in the cytoplasmic regions of the MRP1 protein.1,2,12) Two of the changes occurred in the loop between TM5 and TM6 (Trp242Cys) and between TM7 and TM8 (Ile400Thr). Login to comment
67 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. Login to comment
109 In Block 1 (Table 3), 4 haplotype groups (*1 to *4) were inferred, and the *2 to *4 groups were represented by the nonsynonymous variations, 218CÀT (Thr73Ile) (*2), 726GÀT (Trp242Cys) (*3), and 1199TÀC (Ile400Thr) (*4). Login to comment
113 In addition to these 8 htSNPs, 3 nonsynonymous variations, 218CÀT (Thr73Ile), 726GÀT (Trp242Cys), and 1199TÀC (Ile400Thr) may be included in the htSNPs in order to detect *2 to *4 haplotypes because they might have the functional signicance. Login to comment