PMID: 15379652

Sakaeda T, Nakamura T, Okumura K
Pharmacogenetics of drug transporters and its impact on the pharmacotherapy.
Curr Top Med Chem. 2004;4(13):1385-98., [PubMed]
Sentences
No. Mutations Sentence Comment
84 ABCC1 p.Ala893Ser
X
ABCC1 p.Ala893Ser 15379652:84:44
status: NEW
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ABCB1 p.Gly185Val
X
ABCB1 p.Gly185Val 15379652:84:30
status: NEW
view ABCB1 p.Gly185Val details
Two amino acid substitutions, Gly185Val and Ala893Ser, were detected in MDR1 isolated from normal human adrenal glands, and the latter was suggested to reflect a genetic polymorphism. Login to comment
99 ABCC1 p.Ala893Ser
X
ABCC1 p.Ala893Ser 15379652:99:128
status: NEW
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It has been confirmed that C3435T is in significant linkage disequilibrium (LD) with C1236T and G2677T, the latter resulting in Ala893Ser [73,74,84-88]. Login to comment
127 ABCC1 p.Ala893Ser
X
ABCC1 p.Ala893Ser 15379652:127:446
status: NEW
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ABCC1 p.Ala893Thr
X
ABCC1 p.Ala893Thr 15379652:127:427
status: NEW
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ABCB1 p.Asn183Ser
X
ABCB1 p.Asn183Ser 15379652:127:255
status: NEW
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ABCB1 p.Ser400Asn
X
ABCB1 p.Ser400Asn 15379652:127:280
status: NEW
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ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 15379652:127:194
status: NEW
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ABCB1 p.Gln1107Pro
X
ABCB1 p.Gln1107Pro 15379652:127:530
status: NEW
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ABCB1 p.Phe103Leu
X
ABCB1 p.Phe103Leu 15379652:127:232
status: NEW
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ABCB1 p.Ala999Thr
X
ABCB1 p.Ala999Thr 15379652:127:505
status: NEW
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ABCB1 p.Ser1141Thr
X
ABCB1 p.Ser1141Thr 15379652:127:578
status: NEW
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ABCB1 p.Arg492Cys
X
ABCB1 p.Arg492Cys 15379652:127:376
status: NEW
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ABCB1 p.Met986Val
X
ABCB1 p.Met986Val 15379652:127:480
status: NEW
view ABCB1 p.Met986Val details
ABCC4 p.Ala548Gly
X
ABCC4 p.Ala548Gly 15379652:127:242
status: NEW
view ABCC4 p.Ala548Gly details
Position Location Effect A1a/-41G intron noncoding C-145G exon 1a noncoding T-129C (T12C) exon 1b noncoding C-4T exon 2 noncoding G-1A exon 2 noncoding A61G G5/-25T G5/-35C exon 2 intron intron Asn21Asp T307C C6/+139T exon 5 intron Phe103Leu A548G exon 7 Asn183Ser G1199A exon 11 Ser400Asn C1236T C12/+44T exon 12 intron silent C1474T T17/-76A A17/+137G exon 13 intron intron Arg492Cys C2650T exon 21 silent G2677(A,T) exon 21 Ala893Thr (G2677A) Ala893Ser (G2677T) A2956G exon 24 Met986Val G2995A exon 24 Ala999Thr A3320C exon 26 Gln1107Pro C3396T exon 26 silent T3421A exon 26 Ser1141Thr C3435T exon 26 silent G4030C exon 28 silent A4036G exon 28 silent The list was based on the reports [67,68,71-74]. Login to comment