PMID: 18673259

Nakamura T, Yamamori M, Sakaeda T
Pharmacogenetics of intestinal absorption.
Curr Drug Deliv. 2008 Jul;5(3):153-69., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCC2 p.Arg1150His
X
ABCC2 p.Arg1150His 18673259:33:78
status: NEW
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ABCC2 p.Ile1173Phe
X
ABCC2 p.Ile1173Phe 18673259:33:63
status: NEW
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Two mutations 3517A>T and 3449G>A, predicting the substitution Ile1173Phe and Arg1150His, respectively, impaired the transport of carboxyfluorescein by ABCC2, while the 3517A>T mutation induced weaker ABCC2 expression and mislocation to the ER [39, 41]. Login to comment
34 ABCC2 p.Arg768Trp
X
ABCC2 p.Arg768Trp 18673259:34:0
status: NEW
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Arg768Trp induced by 2302C>T resulted in deficient maturation and impaired sorting, whereas Glu1382Arg induced by 4145A>G caused deficient transport [40]. Login to comment
35 ABCC2 p.Lys677Arg
X
ABCC2 p.Lys677Arg 18673259:35:24
status: NEW
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An artificial mutation, Lys677Arg (2030A>G), introduced into the Walker A motif of nucleotide-binding domain (NBD) 1, which has not been found in DJS patients, also resulted in deficient maturation and impaired sorting. Login to comment
36 ABCC2 p.Arg768Trp
X
ABCC2 p.Arg768Trp 18673259:36:99
status: NEW
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ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 18673259:36:78
status: NEW
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ABCC2 p.Ser789Phe
X
ABCC2 p.Ser789Phe 18673259:36:120
status: NEW
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ABCC2 p.Ser789Phe
X
ABCC2 p.Ser789Phe 18673259:36:206
status: NEW
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ABCC2 p.Ala1450Thr
X
ABCC2 p.Ala1450Thr 18673259:36:145
status: NEW
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ABCC2 p.Ala1450Thr
X
ABCC2 p.Ala1450Thr 18673259:36:220
status: NEW
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Hirouchi and colleagues evaluated the cellular location and function of ABCC2 Val417Ile (1249G>A), Arg768Trp (2302C>T), Ser789Phe (2366C>T), and Ala1450Thr (4348G>A) variants in LLC-PK1 cells, finding that Ser789Phe and Ala1450Thr mutations caused less expression and mislocation [51]. Login to comment
69 ABCG2 p.Arg482Thr
X
ABCG2 p.Arg482Thr 18673259:69:155
status: VERIFIED
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ABCG2 p.Arg482Gly
X
ABCG2 p.Arg482Gly 18673259:69:169
status: VERIFIED
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Volk and co-workers reported that methotrexate resistance correlated with ABCG2 expression in cell lines expressing the wild-type transporter, whereas the Arg482Thr and Arg482Gly variants were more resistant to mitoxantrone and less resistant to methotrexate, than expected from their ABCG2 expression levels using drug-selected and ABCG2-transfected cell lines [78]. Login to comment
76 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:76:124
status: VERIFIED
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ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 18673259:76:111
status: VERIFIED
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Among the SNPs identified so far, two nonsynonymous SNPs, 34G>A and 421C>A, in the coding region, resulting in Val12Met and Gln141Lys, respectively, are relatively frequently identified and well-studied. Login to comment
77 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:77:74
status: VERIFIED
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ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 18673259:77:61
status: VERIFIED
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Honjo et al. sequenced 90 genomic DNA samples and identified Val12Met and Gln141Lys at a frequency of 12.2% and 6.1%, respectively [86]. Login to comment
78 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:78:17
status: VERIFIED
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ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 18673259:78:4
status: VERIFIED
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The Val12Met and Gln141Lys polymorphisms were also identified in a sequence analysis of ABCG2 cDNA clones isolated from 11 human tumor cell lines and were confirmed to have allelic frequencies of 19.0% and 26.6%, respectively, by a genomic DNA analysis in 124 Japanese [85]. Login to comment
81 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:81:56
status: VERIFIED
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Kondo and coworkers showed that the expression level of Gln141Lys ABCG2 was approximately 30-40% that of wild-type ABCG2 in membrane vesicles prepared from HEK293 cells infected with a recombinant adenovirus [94]. Login to comment
83 ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 18673259:83:1821
status: VERIFIED
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ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 18673259:83:375
status: NEW
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ABCC2 p.Lys1299Gln
X
ABCC2 p.Lys1299Gln 18673259:83:1201
status: NEW
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ABCC2 p.Arg353His
X
ABCC2 p.Arg353His 18673259:83:317
status: NEW
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ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 18673259:83:1529
status: NEW
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ABCC2 p.Val1188Glu
X
ABCC2 p.Val1188Glu 18673259:83:1104
status: NEW
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ABCC2 p.Asn718Ser
X
ABCC2 p.Asn718Ser 18673259:83:735
status: NEW
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ABCC2 p.Leu849Arg
X
ABCC2 p.Leu849Arg 18673259:83:771
status: NEW
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ABCC2 p.Asp333Gly
X
ABCC2 p.Asp333Gly 18673259:83:281
status: NEW
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ABCC2 p.Arg1181Leu
X
ABCC2 p.Arg1181Leu 18673259:83:1037
status: NEW
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ABCC2 p.Pro1291Leu
X
ABCC2 p.Pro1291Leu 18673259:83:1171
status: NEW
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ABCC2 p.Ile1036Thr
X
ABCC2 p.Ile1036Thr 18673259:83:932
status: NEW
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ABCC2 p.Ile670Thr
X
ABCC2 p.Ile670Thr 18673259:83:661
status: NEW
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ABCC2 p.Thr486Ile
X
ABCC2 p.Thr486Ile 18673259:83:558
status: NEW
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ABCC2 p.Glu893Gln
X
ABCC2 p.Glu893Gln 18673259:83:808
status: NEW
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ABCC2 p.Lys495Glu
X
ABCC2 p.Lys495Glu 18673259:83:595
status: NEW
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ABCC2 p.Met246Leu
X
ABCC2 p.Met246Leu 18673259:83:246
status: NEW
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ABCC2 p.Asn1063Ser
X
ABCC2 p.Asn1063Ser 18673259:83:969
status: NEW
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ABCC2 p.Ile982Val
X
ABCC2 p.Ile982Val 18673259:83:903
status: NEW
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ABCC2 p.Phe562Leu
X
ABCC2 p.Phe562Leu 18673259:83:632
status: NEW
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In Vitro Studies Associated with Common SNPs of Drug Transporter Genes Exon Polymorphism Effect dbSNP Cell Expression Function Reference ABCC2 Exon 1 -24C>T 5`-UTR rs717620 116A>T Tyr2Phe rs927344Exon 2 159A>G synonymous rs17222596 Exon 7 736A>C Met246Leu rs17222744 Exon 8 998A>G Asp333Gly rs17222674 Exon 9 1058G>A Arg353His rs7080681 1219C>T synonymous rs17216198 1249G>A Val417Ile rs2273697 LLC-PK1 Protein (n.s.) Membrane localization (n.s.) Transport activity (n.s.) Hirouchi et al. [51] 1434G>T synonymous 1434G>A synonymous rs4267009 Exon 10 1457C>T Thr486Ile rs17222589 Exon 11 1483A>G Lys495Glu rs17222561 Exon 13 1686T>G Phe562Leu rs17216233 2009T>C Ile670Thr rs17222632Exon 16 2073C>A synonymous rs17222624 Exon 17 2153A>G Asn718Ser rs3740072 Exon 19 2546T>G Leu849Arg rs17222617 Exon 20 2677G>C Glu893Gln rs3740071 2901C>A Tyr967stop rs17222547 2934G>A synonymous rs3740070 Exon 22 2944A>G Ile982Val rs17222554 3107T>C Ile1036Thr rs17216149Exon 23 3188A>G Asn1063Ser rs17222540 Exon 24 3396T>C synonymous rs17216345 3542G>T Arg1181Leu rs8187692 3561G>A synonymous rs17216324 Exon 25 3563T>A Val1188Glu rs17222723 Exon 27 3817A>G Thr1273Ara rs8187699 3872C>T Pro1291Leu rs17216317 3895A>C Lys1299Gln rs4148400 3927C>T synonymous rs4148401 Exon 28 3972C>T synonymous rs3740066 4062C>T synonymous rs17216275Exon 29 4110C>T synonymous rs7899457 4242C>T synonymous rs17216296Exon 30 4290G>T synonymous rs1137968 4410G>A synonymous rs8187706Exon 31 4488C>T synonymous rs8187707 4527C>T synonymous rs8187709Exon 32 4544G>A Cys1515Tyr rs8187710 ABCG2 PA317 mRNA (n.s.) Protein (n.s.) Drug sensitivity (n.s.) Topotecan uptake (n.s.) Imai et al. [85] mRNA (n.s.) Protein (n.s.) Apical localization (impaired) Drug sensitivity ( ) Indolocarbazole uptake ( ) Indolocarbazole efflux ( ) Mizuarai et al. [88] Exon 2 34G>A Val12Met rs2231137 LLC-PK1 Apical localization (n.s.) . Login to comment
85 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:85:1073
status: VERIFIED
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ABCG2 p.Ile206Leu
X
ABCG2 p.Ile206Leu 18673259:85:1351
status: VERIFIED
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ABCG2 p.Gln166Glu
X
ABCG2 p.Gln166Glu 18673259:85:1230
status: VERIFIED
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ABCG2 p.Phe208Ser
X
ABCG2 p.Phe208Ser 18673259:85:1592
status: VERIFIED
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ABCG2 p.Ser248Pro
X
ABCG2 p.Ser248Pro 18673259:85:1626
status: VERIFIED
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ABCG2 p.Phe571Ile
X
ABCG2 p.Phe571Ile 18673259:85:1698
status: VERIFIED
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ABCG2 p.Ile206Thr
X
ABCG2 p.Ile206Thr 18673259:85:1540
status: VERIFIED
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ABCG2 p.Ile206Ser
X
ABCG2 p.Ile206Ser 18673259:85:1523
status: VERIFIED
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ABCG2 p.Ile206Asn
X
ABCG2 p.Ile206Asn 18673259:85:1557
status: VERIFIED
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Exon Polymorphism Effect dbSNP Cell Expression Function Reference mRNA ( ) Protein (n.s.) Membrane localization (n.s.) Drug sensitivity (n.s.) Mitoxantrone efflux (n.s.) Hoechst 33342 efflux (n.s.) Morisaki et al. [92] HEK293 Protein (n.s.) Transport activity (n.s.) Kondo et al. [94] Protein (n.s.) ATPase activity (n.s.) Mizuarai et al. [88] Sf9 Protein ( ) ATPase activity (n.s.) Hoechst 33342 efflux ( ) Morisaki et al. [92] Exon 2 114T>C synonymous rs12721640 Exon 4 369C>T synonymous rs2231139 PA317 mRNA (n.s.) Protein ( ) Drug sensitivity ( ) Intracellular uptake ( ) Imai et al. [85] mRNA (n.s.) Protein (n.s.) Apical localization (n.s.) Drug sensitivity ( ) Indolocarbazole uptake ( ) Indolocarbazole efflux ( ) Mizuarai et al. [88] LLC-PK1 Apical localization (n.s.) Kondo et al. [94] mRNA ( ) Protein (n.s.) Membrane localization (impaired) Drug sensitivity ( ) Mitoxantrone efflux ( ) Hoechst 33342 efflux (n.s.) Morisaki et al. [92] HEK293 Protein ( ) Transport activity (n.s.) Kondo et al. [94] Protein (n.s.) ATPase activity ( ) Mizuarai et al. [88] 421C>A Gln141Lys rs2231142 Sf9 Protein (n.s.) ATPase activity ( ) Hoechst 33342 efflux (n.s.) Morisaki et al. [92] LLC-PK1 Apical localization (n.s.) Exon 5 496C>G Gln166Glu rs1061017 HEK293 Protein (n.s.) Transport activity (n.s.) Kondo et al. [94] 564A>G synonymous rs3116439 616A>C Ile206Leu rs12721643 HEK293 Protein ( or n.s.) Membrane localization (n.s.) Efflux activity ( ) Drug sensitivity ( ) ATPase activity (n.s.) Vethanayagam et al. [95] 617T>G Ile206Ser 617T>C Ile206Thr 617T>A Ile206Asn rs28365037 Exon 6 623T>C Phe208Ser rs1061018 Exon 7 742T>C Ser248Pro rs3116448 Exon 9 1000G>T Glu334stop rs3201997 Exon 14 2204T>A Phe571Ile rs9282571 SLC15A1 CHO Cephalexin uptake (n.s.)61G>A Val21Ile rs8187818 Cos7 Cephalexin uptake (n.s.) Substrate selectivity (n.s.) CHO Cephalexin uptake ( ) Cos7 Cephalexin uptake ( ) Substrate selectivity (VAC inhibition?) Login to comment
92 ABCC2 p.Val417Ile
X
ABCC2 p.Val417Ile 18673259:92:843
status: NEW
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ABCC2 p.Arg353His
X
ABCC2 p.Arg353His 18673259:92:785
status: NEW
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ABCC2 p.Asn718Ser
X
ABCC2 p.Asn718Ser 18673259:92:1566
status: NEW
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ABCC2 p.Leu849Arg
X
ABCC2 p.Leu849Arg 18673259:92:1602
status: NEW
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ABCC2 p.Asp333Gly
X
ABCC2 p.Asp333Gly 18673259:92:749
status: NEW
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ABCC2 p.Ile1036Thr
X
ABCC2 p.Ile1036Thr 18673259:92:1763
status: NEW
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ABCC2 p.Ile670Thr
X
ABCC2 p.Ile670Thr 18673259:92:1492
status: NEW
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ABCC2 p.Thr486Ile
X
ABCC2 p.Thr486Ile 18673259:92:1389
status: NEW
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ABCC2 p.Glu893Gln
X
ABCC2 p.Glu893Gln 18673259:92:1639
status: NEW
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ABCC2 p.Lys495Glu
X
ABCC2 p.Lys495Glu 18673259:92:1426
status: NEW
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ABCC2 p.Met246Leu
X
ABCC2 p.Met246Leu 18673259:92:714
status: NEW
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ABCC2 p.Asn1063Ser
X
ABCC2 p.Asn1063Ser 18673259:92:1800
status: NEW
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ABCC2 p.Ile982Val
X
ABCC2 p.Ile982Val 18673259:92:1734
status: NEW
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ABCC2 p.Phe562Leu
X
ABCC2 p.Phe562Leu 18673259:92:1463
status: NEW
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Exon Polymorphism Effect dbSNP Subject Expression Function Reference DNT patient Tumoral protein (GG GA) Peritumoral protein (GG GA) Vogelgesang et al. [54] Nasopharyngeal cancer patient Irinotecan PK (CC CT TT) SN-38 PK (CC CT TT) SN-38G PK (CC CT TT) Zhou et al. [56] Colorectal cancer patient (Japanese) Tumoral mRNA (CC CT TT) Drug sensitivity (CC CT TT) Tumor growth rate (CC CT TT) Nishioka et al. [57] HIV patient (Caucasian) Nelfinavir intracellular AUC (CC CT TT) Colombo et al. [58] Spina Bifida patient Disease-susceptibility (CC CT TT) Jensen et al. [60] Cancer patient (Caucasian) Diflomotecan PK (CC CA) Sparreboom et al. [96] 116A>T Tyr2Phe rs927344Exon 2 159A>G synonymous rs17222596 Exon 7 736A>C Met246Leu rs17222744 Exon 8 998A>G Asp333Gly rs17222674 Exon 9 1058G>A Arg353His rs7080681 1219C>T synonymous rs17216198 1249G>A Val417Ile rs2273697 Healthy (Finnish) Pravastatin PK (GG GA AA) Niemi et al. [48] Women undergoing cesarean section Placental mRNA [preterms] (GG>GA>AA), [term] (GG GA AA) Placental protein (GG GA AA) Meyer zu Schwabedissen et al. [52] DNT patient Tumoral protein (GG<GA) Peritumoral protein (GG GA) Vogelgesang et al. [54] HIV patient (Caucasian) Nelfinavir intracellular AUC (GG GA AA) Colombo et al. [58] Cancer patient (Caucasian) Diflomotecan PK (CC CA) Sparreboom et al. [96] 1434G>T synonymous 1434G>A synonymous rs4267009 Exon 10 1457C>T Thr486Ile rs17222589 Exon 11 1483A>G Lys495Glu rs17222561 Exon 13 1686T>G Phe562Leu rs17216233 2009T>C Ile670Thr rs17222632Exon 16 2073C>A synonymous rs17222624 Exon 17 2153A>G Asn718Ser rs3740072 Exon 19 2546T>G Leu849Arg rs17222617 Exon 20 2677G>C Glu893Gln rs3740071 2901C>A Tyr967stop rs17222547 2934G>A synonymous rs3740070 Exon 22 2944A>G Ile982Val rs17222554 3107T>C Ile1036Thr rs17216149Exon 23 3188A>G Asn1063Ser rs17222540 (Table 3) contd…. Login to comment
93 ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 18673259:93:1742
status: VERIFIED
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ABCC2 p.Lys1299Gln
X
ABCC2 p.Lys1299Gln 18673259:93:553
status: NEW
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ABCC2 p.Cys1515Tyr
X
ABCC2 p.Cys1515Tyr 18673259:93:1427
status: NEW
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ABCC2 p.Val1188Glu
X
ABCC2 p.Val1188Glu 18673259:93:174
status: NEW
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ABCC2 p.Arg1181Leu
X
ABCC2 p.Arg1181Leu 18673259:93:115
status: NEW
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ABCC2 p.Pro1291Leu
X
ABCC2 p.Pro1291Leu 18673259:93:523
status: NEW
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Exon Polymorphism Effect dbSNP Subject Expression Function Reference Exon 24 3396T>C synonymous rs17216345 3542G>T Arg1181Leu rs8187692 3561G>A synonymous rs17216324 3563T>A Val1188Glu rs17222723 Healthy (Finnish) Pravastatin PK (TT TA) Niemi et al. [48] HIV patient (Caucasian) Nelfinavir intracellular AUC (TT TA) Colombo et al. [58] Exon 25 Patient Acute anthracycline-induced cardiotoxicity (TT<TA) Chronic anthracycline-induced cardiotoxicity (TT TA) Wojnowski et al. [59] Exon 27 3817A>G Thr1273Ara rs8187699 3872C>T Pro1291Leu rs17216317 3895A>C Lys1299Gln rs4148400 3927C>T synonymous rs4148401 3972C>T synonymous rs3740066 Women undergoing cesarean section Placental mRNA (GG GA AA) Placental protein (GG GA AA) Meyer zu Schwabedissen et al. [52] DNT patient Tumoral protein (GG GA) Peritumoral protein (GG GA) Vogelgesang et al. [54] Patient 9-nitrocamptotecin PK and toxicity (CC CT TT) 9-aminocamptotecin PK and toxicity (CC CT TT) Zamboni et al. [55] Exon 28 Colorectal cancer patient (Japanese) Tumoral mRNA (CC CT TT) Drug sensitivity (CC CT TT) Tumor growth rate (CC CT TT) Nishioka et al. [57] 4062C>T synonymous rs17216275Exon 29 4110C>T synonymous rs7899457 4242C>T synonymous rs17216296Exon 30 4290G>T synonymous rs1137968 Exon 31 4410G>A synonymous rs8187706 4488C>T synonymous rs8187707 HIV patient (Caucasian) Nelfinavir intracellular AUC (CC CT) Colombo et al. [58] 4527C>T synonymous rs8187709 4544G>A Cys1515Tyr rs8187710 Healthy (Finnish) Pravastatin PK (GG GA) Niemi et al. [48] HIV patient (Caucasian) Nelfinavir intracellular AUC (GG GA) Colombo et al. [58] Exon 32 Patient Acute anthracycline-induced cardiotoxicity (GG<GA) Chronic anthracycline-induced cardiotoxicity (GG GA) Wojnowski et al. [59] ABCG2 34G>A Val12Met rs2231137 Nasopharyngeal cancer patient Irinotecan PK (GG GA+AA) SN-38 PK (GG GA+AA) SN-38G PK (GG GA+AA) Zhou et al. [56] HIV patient (Caucasian) Nelfinavir intracellular AUC (GG GA) Colombo et al. [58] Exon 2 Patient (Japanese) Placental mRNA (GG GA AA) Placental protein (GG GA AA) Kobayashi et al. [91] (Table 3) contd…. Login to comment
94 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:94:133
status: VERIFIED
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ABCG2 p.Ile206Leu
X
ABCG2 p.Ile206Leu 18673259:94:933
status: VERIFIED
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ABCG2 p.Gln166Glu
X
ABCG2 p.Gln166Glu 18673259:94:878
status: VERIFIED
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ABCG2 p.Phe208Ser
X
ABCG2 p.Phe208Ser 18673259:94:1030
status: VERIFIED
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ABCG2 p.Ser248Pro
X
ABCG2 p.Ser248Pro 18673259:94:1064
status: VERIFIED
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ABCG2 p.Phe571Ile
X
ABCG2 p.Phe571Ile 18673259:94:1136
status: VERIFIED
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ABCG2 p.Ile206Thr
X
ABCG2 p.Ile206Thr 18673259:94:978
status: VERIFIED
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ABCG2 p.Ile206Ser
X
ABCG2 p.Ile206Ser 18673259:94:961
status: VERIFIED
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ABCG2 p.Ile206Asn
X
ABCG2 p.Ile206Asn 18673259:94:995
status: VERIFIED
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Exon Polymorphism Effect dbSNP Subject Expression Function Reference 114T>C synonymous rs12721640 369C>T synonymous rs2231139 421C>A Gln141Lys rs2231142 Patient (Caucasian) 9-nitrocamptotecin PK (CC CA) 9-aminocamptotecin PK [AUC/Dose] (CC<CA) Zamboni et al. [55] Nasopharyngeal cancer patient Irinotecan PK (CC CA+AA) SN-38 PK (CC CA+AA) SN-38G PK (CC CA+AA) Zhou et al. [56] HIV patient (Caucasian) Nelfinavir intracellular AUC (CC CA AA) Colombo et al. [58] Cancer patient Irinotecan PK (CC CA+AA) SN-38 PK (CC CA+AA) SN-38G PK (CC CA+AA) de Jong et al. [90] Patient (Japanese) Placental mRNA (CC CA AA) Placental protein (CC>CA>AA) Kobayashi et al. [91] Cancer patient Diflomotecan PK [AUC, Cmax] (CC<CA), [F] (CC>CA) Sparreboom et al. [96] Healthy (Chinese) Rosuvastatin PK [AUC, Cmax] (CC<CA+AA), [CL/F] (CC>CA+AA), [T1/2, Tmax] (CC CA+AA) Zhang et al. [97] Exon 4 496C>G Gln166Glu rs1061017 564A>G synonymous rs3116439 616A>C Ile206Leu rs12721643 617T>G Ile206Ser 617T>C Ile206Thr 617T>A Ile206Asn rs28365037 Exon 6 623T>C Phe208Ser rs1061018 Exon 7 742T>C Ser248Pro rs3116448 Exon 9 1000G>T Glu334Stop rs3201997 Exon 14 1711T>A Phe571Ile rs9282571 SLC15A1 61G>A Val21Ile rs8187818Exon 3 83T>A Phe28Tyr rs8187817 258G>A synonymous rs8187823 330C>T synonymous rs8187822 350G>A Ser117Asn rs2297322 351C>A Ser117Arg rs8187821 Exon 5 364G>A Val122Met rs8187820 Exon 7 501C>T synonymous rs3737087 Exon 11 843G>A synonymous r8187812 Exon 15 1147G>A Asp383Asn rs1782674 1179C>T synonymous rs8187836Exon 16 1256G>C Gly419Ara rs4646227 1347T>C synonymous rs1339067 Allelic mRNA imbalance (2030%) Anderle et al. [101] 1348G>A Val450Ile rs2274828 1352C>A Thr451Asn rs8187838 Exon 17 1375C>T Arg459Cys rs2274827 Exon 18 1446A>G synonymous rs8187828 (Table 3) contd…. Login to comment
97 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:97:458
status: VERIFIED
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PK: pharmacokinetics DNT: dysembryoplastic neuroepithelial tumors SN-38, SN-38G: irinotecan metabolites HIV: human Immunodeficiency Virus AUC: area under time-drug concentration curve Cmax: maximum drug concentration F: bioavailability CL/F: oral clearance T1/2: blood elimination half-life Tmax: time to peak concetration pendent groups, Mizuarai et al. [88] and Morisaki et al. [92], have shown comparable ABCG2 protein expression in wild-type and variant Gln141Lys transfectants in an immunostaining analysis using LLC-PK1 cells and immunoblot analysis using HEK-293 cells, respectively. Login to comment
99 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:99:51
status: VERIFIED
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ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:99:238
status: VERIFIED
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ABCG2 p.Val12Met
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ABCG2 p.Val12Met 18673259:99:34
status: VERIFIED
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In the report of Mizuarai et al., Val12Met but not Gln141Lys affected apical membrane localization of ABCG2 in transfectant- LLC-PK1 cells, whereas Morisaki et al. reported impaired membrane trafficking or incorrect membrane insertion of Gln141Lys ABCG2 in HEK-293 cells. Login to comment
100 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 18673259:100:43
status: VERIFIED
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Both groups also demonstrated that variant Gln141Lys ABCG2-expressing cells exhibited altered ATPase activity in Sf9 insect cells with ABCG2-bearing baculovirus and reduced drug resistance to ABCG2 substrates such as mitoxantrone, topotecan, and an indolocarbazole topoisomerase I inhibitor in LLC-PK1 cells or HEK293 cells [88, 92]. Login to comment
101 ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 18673259:101:65
status: VERIFIED
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ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 18673259:101:132
status: VERIFIED
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Reduced drug resistance to ABCG2 substrates was also observed in Val12Met ABCG2-transfected LLC-PK1 cells, but not significantly in Val12Met ABCG2-transfected HEK-293 cells. Login to comment
103 ABCG2 p.Ile206Leu
X
ABCG2 p.Ile206Leu 18673259:103:23
status: VERIFIED
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On the other hand, the Ile206Leu variant, induced by 616A>C SNP, which occurred at lower allele frequency, exhibited approximately 2-fold wild-type efflux activity in HEK293 cells, whereas its ATPase activities were not significantly different from wild-type protein [95]. Login to comment