ABCB1 p.Gly102Arg
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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 ?
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ABCB1 p.Gly102Arg 19771428:86:98
status: NEW124 patients who experienced grade 4 neutropenia ID Gene Genetic variation Nucleotide change (amino acid substitution) Haplotypea b1 ABCB1 304G[C (G102R) Block 1 *3 b2(B)b 1804G[A (D602N) Block 2 *12 b3(B)b 1342G[A (E448K) Block 2 *14 b4 3043A[G (T1015A) Block 2 *16 b5 3751G[A (V1251I) Block 3 *2 c1 ABCC2 1177C[T (R393W) *7 g1 ABCG2 376C[T (Q126X) Block 1 *4 g2 1465T[C (F489L) Block 2 *2 g3 1723C[T (R575X) Block 2 *5 s1(S)c SLCO1B1 1007C[G (P336R) s2 311T[A (M104K) u1 UGT1A1 -3279T[G, 1941C[G # 60-# IB (?/?)
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ABCB1 p.Gly102Arg 19771428:124:143
status: NEW
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
67
Novel variations included 8 nonsynonymous substitutions: 49T>C(F17L), 144G>T(K48N), 304G>C(G102R), 1342G>A(E448K), 1804G>A(D602N), 2359C>T (R787W), 2719G>A(V907I) and 3043A>G(T1015A); and 2 synonymous substitutions: 354C>T (Y118Y) and 447A>G(K149K); with frequencies ranging from 0.001 to 0.005.
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ABCB1 p.Gly102Arg 16907707:67:91
status: NEW93 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).
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ABCB1 p.Gly102Arg 16907707:93:95
status: NEW215 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).
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ABCB1 p.Gly102Arg 16907707:215:351
status: NEW264 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.
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ABCB1 p.Gly102Arg 16907707:264:155
status: NEW