ABCMdb

ABCB1 p.Glu109Lys

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Publications

PMID: 19771428 [PubMed] Sai K et al: "Additive effects of drug transporter genetic polymorphisms on irinotecan pharmacokinetics/pharmacodynamics in Japanese cancer patients."

No. Sentence Comment

86 = UGT1A1*6 or *28. a BJL contains -1789G[A, *2 (block 1) = 325G[A (E109K), *3 (block 1) = 304G[A (G102R); b *2 (block 2) contains 2677G[T (A893S); c *1b (block 3) = IVS27-182G[T, *2 (block 3) = 3751G[ A (V1251I); d *1A contains -1774delG; e IIB contains 421C[A (Q141K) and IVS12 ? Login to comment

PMID: 14646693 [PubMed] Sai K et al: "Haplotype analysis of ABCB1/MDR1 blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan."

No. Sentence Comment

102 Unauthorized reproduction of this article is prohibited. Copyright(c)LippincottWilliams&Wilkins.Unauthorizedreproductionofthisarticleisprohibited. Table 2 List of SNPs and deletion/insertion of the ABCB1 gene found in a Japanese population SNP IDÃ Position Nucleotide Effect on Block Site Our SNP ID NCBI IMS-JST NT_007933.10 cDNA-based change protein Frequency Block À1 59-Flanking MPJ6_AB1057 12472341 À8104 T.C 0.003 59-Flanking MPJ6_AB1059 12472207 À7970 C.T 0.007 Block 1 59-Flanking MPJ6_AB1002 rs2188524 ssj0000008 12464608 À371 A.G 0.128 Exon 1 (59-UTR) MPJ6_AB1003 12464382 À145 C.G 0.024 Exon 1 (59-UTR) MPJ6_AB1004 rs3213619 ssj0000009 12464366 À129 T.C 0.093 Intron 1 MPJ6_AB1005 rs3214119 ssj0000010 12463753 IVS1-74 delG 0.121 Intron 3 MPJ6_AB1008 rs2235074 12459219 IVS3+36 C.T 0.093 Intron 4 MPJ6_AB1010 rs2235014 12433788 IVS4-76 T.C 0.017 Intron 4 MPJ6_AB1011 rs2235015 12433737 IVS4-25 G.T 0.086 Exon 5 MPJ6_AB1012 12433674 325 G.A E109K 0.010 Intron 5 MPJ6_AB1013 rs2235016 12433585 IVS5+76 T.G 0.055 Block 2 Intron 5 MPJ6_AB1014 rs2235018 12433538 IVS5+123 A.G 0.141 Intron 5 MPJ6_AB1015 rs2235020 12433438 IVS5+223 A.T 0.548 Intron 5 MPJ6_AB1016 rs2235021 12433437 IVS5+224 G.T 0.548 Intron 6 MPJ6_AB1017 12429839 IVS6-109 G.T 0.007 Intron 7 MPJ6_AB1018 12429545 IVS7+14 G.A 0.010 Intron 8 MPJ6_AB1020 rs1922240 ssj0000016 12417527 IVS8-106 A.G 0.348 Intron 9 MPJ6_AB1021 12414371 IVS9-44 G.A 0.445 Intron 10 MPJ6_AB1023 rs2235029 12414108 IVS10-41 T.G 0.017 Exon 12 MPJ6_AB1025 rs1128503 12413774 1236 C.T G412G (silent) 0.555 Intron 12 MPJ6_AB1052 12413643 IVS12+17 G.A 0.010 Intron 13 MPJ6_AB1026 rs2235033 ssj0000018 12413316 IVS13+24 T.C 0.445 Intron 13 MPJ6_AB1027 rs2235035 ssj0000019 12413259 IVS13+81 C.T 0.348 Intron 14 MPJ6_AB1028 rs2235013 ssj0000020 12412799 IVS14+38 G.A 0.445 Intron 15 MPJ6_AB1029 12408557 IVS15-69 T.C 0.014 Intron 16 MPJ6_AB1030 rs2235046 12408239 IVS16+73 A.G 0.452 Intron 16 MPJ6_AB1031 rs1922242 12407840 IVS16-76 T.A 0.369 Intron 18 MPJ6_AB1034 12402869 IVS18-35 G.C 0.003 Intron 20 MPJ6_AB1035 rs2235040 ssj0000027 12399923 IVS20+24 G.A 0.090 Exon 21 MPJ6_AB1036 12394791 2677 G.A A893T 0.200 Exon 21 MPJ6_AB1037 rs2032582 12394791 2677 G.T A893S 0.403 Intron 21 MPJ6_AB1038 rs2032583 ssj0000031 12394734 IVS21+49 T.C 0.090 Intron 24 MPJ6_AB1040 12379982 IVS24+16 C.T 0.031 Exon 26 MPJ6_AB1041 rs1045642 ssj0000040 12372818 3435 C.T I1145I (silent) 0.441 Intron 26 MPJ6_AB1042 rs2235047 ssj0000048 12372705 IVS26+59 T.G 0.403 Intron 26 MPJ6_AB1043 rs2235048 ssj0000049 12372684 IVS26+80 T.C 0.448 Block 3 Exon 27 MPJ6_AB1068 12369435 3587 T.G I1196S 0.003 Intron 27 MPJ6_AB1044 12369323 IVS27+63 C.G 0.003 Intron 27 MPJ6_AB1053 12368127 IVS27-189 A.G 0.007 Intron 27 MPJ6_AB1045 rs1186745 ssj0000051 12368120 IVS27-182 G.T 0.200 Intron 27 MPJ6_AB1054 12368110 IVS27-172 G.A 0.010 Intron 27 MPJ6_AB1047 rs1186744 12368106 IVS27-168 T.C 0.010 Intron 27 MPJ6_AB1048 12368105 IVS27-167 A.G 0.014 Intron 27 MPJ6_AB1055 12368090 IVS27-152 A.G 0.003 Intron 27 MPJ6_AB1049 12368057 IVS27-119 C.T 0.021 Intron 27 MPJ6_AB1056 rs2235049 12368025 IVS27-87 A.G 0.007 Intron 27 MPJ6_AB1070 12368024 IVS27-86 T.C 0.003 Intron 27 MPJ6_AB1071 12368018 IVS27-80 ins C 0.003 Exon 28 MPJ6_AB1051 12367824 3751 G.A V1251I 0.010 ÃSNP ID assigned by our project team (MPJ-6). Login to comment
103 746Pharmacogenetics2003,Vol13No12 Copyright(c)LippincottWilliams&Wilkins.Unauthorizedreproductionofthisarticleisprohibited. Table 3 Classification of major ABCB1 haplotypes Site Exon 2 Exon 5 Exon 7 Exon 11 Exon 12 Exon 13 Exon 21 Exon 21 Exon 21 Exon 26 Exon 26 Exon 27 Exon 28 PositionÃ Exon 1 Exon 1 61A.G 325G.A 548A.G 1199G.A 1236C.T 1474C.T 2650C.T 2677G.T 2677G.A 3421T.A 3435C.T 3587T.G 3751G.A Effect on protein À4C.T À1G.A N21D E109K N183S S400N G412G R492C L884L A893S A893T S1141T I1145I I1196S V1251I Classification by Kim et al. [12] Ã1 - - - - - - - - - - - Ã1A - - - - A - - - - - - Ã1B T - - - - - - - - - - Ã1C - - - - - - - - - A - Ã1D - - - G - - - - - - - Ã2 - - - - - T - - T - T Ã2A - - G - - T - - T - T Ã2B - - - - - T - T T - T Ã2C - - - - - T T - T - T Ã3 - - - - - - - - T - T Ã4 - - - - - T - - - - T Ã5 - A - - - - - - - - T Ã6 - - - - - - - - - - T Ã7 - - - - - - - - T - - Ã8 - - - - - T - - - - - Classification of haplotype group detected in this paperÃÃ Block 1 Ã1 - - - - Ã2 - - G - Block 2 Ã1 - - - - - - - - - Ã2 - - T - - T - - T Ã4 - - T - - - - - T Ã6 - - - - - - - - T Ã8 - - T - - - - - - Ã9 - - - - - - - - - Ã10 - - - - - - A - - Ã11 - - T - - - A - - Block 3 Ã1 - - Ã2 - A Ã3 G - ÃAdenine of the initiation codon ATG in exon 2 was numbered +1. Login to comment
119 In Block 1, a haplotype having both a nonsynonymous SNP 325G.A (E109K) [34] and an intronic SNP IVS1- 74delG was defined as Ã2. Login to comment
132 *2 *1 Exon 1 5'-UTR Exon 1 5'-UTR Intron 1 Intron 3 Intron 4 Intron 4 Exon 5 Intron 5 TϾCCϾGAϾG -371 -145 -129 IVS1 -74 IVS3 ϩ36 IVS4 -76 IVS4 -25 325 IVS5 ϩ76 delG GϾTTϾCCϾT GϾA E109K TϾG *1/*1 N 63 23 9 10 7 4 6 5 1 1 1 2 2 2 1 1 1 1 1 1 1 2 N 194 32 15 13 11 9 6 5 1 1 2 1 Fig. 2 The diplotypes and haplotypes in Block À1 and Block 1 of the ABCB1 gene for 145 Japanese subjects. Login to comment

PMID: 16907707 [PubMed] Sai K et al: "Genetic variations and haplotype structures of the ABCB1 gene in a Japanese population: an expanded haplotype block covering the distal promoter region, and associated ethnic differences."

No. Sentence Comment

93 Haplotype groups * 2 to * 5 were defined by the nonsynonymous SNPs 325G>A(E109K) (* 2), 304G>C(G102R) (* 3), 49T>C(F17L) (* 4) and 144G>T(K48N) (* 5). Login to comment
215 As indicated by the cladograms in the previous section, our study revealed that subgroup A, previously classified as wild-type, could be further classified into six types: the major * 1a type without any marker variation and five other types with either IVS1 -78delG (* 1c), IVS4 - 25G>T (* 1d), 325G>A(E109K) (* 2a), IVS5 + 123A>G (* 1n), or 304 G>C(G102R) (* 3a). Login to comment
264 In total our data revealed 11 tagging variations in Block 1: -1789G>A, -1461 -1457CATCdel, -371A>G, -145C>G, -129T>C, IVS1 - 78delG, IVS4 - 25G>T, 304G>C (G102R), 325G>A (E109K), IVS + 76T>G and IVS5 + 123A>G. Login to comment