ABCC1 p.Ile400Thr
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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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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.Ile400Thr 17329911:11:87
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.Ile400Thr 17329911:62:77
status: NEW63 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).
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ABCC1 p.Ile400Thr 17329911:63:193
status: NEW68 The loop between TM5 and TM 6 where Trp242 resides is known to be important for interaction with glutathione.17) Furthermore, Trp242 is located near the regions important for LTC4 binding (residues 260274)18) and LTC4 transporting activity of MRP1 proteins (amino acids 223232).19) As for Ile400Thr, Lys396 mutation to Glu or Ile, located 4 residues upstream, was shown to cause a reduced transport activity.20) The functional signicance of these 8 novel variations should be claried in the future studies.
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ABCC1 p.Ile400Thr 17329911:68:301
status: NEW109 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).
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ABCC1 p.Ile400Thr 17329911:109:218
status: NEW113 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.
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ABCC1 p.Ile400Thr 17329911:113:126
status: NEW