ABCMdb

PMID: 16504381

Kerb R
Implications of genetic polymorphisms in drug transporters for pharmacotherapy.
Cancer Lett. 2006 Mar 8;234(1):4-33. Epub 2006 Feb 28., [PubMed]

Sentences

No. Mutations Sentence Comment

63 ABCB1 p.Gly185Val ABCB1 p.Met986Val naturally-occurring polymorphisms in the human ABCB1 gene reported was the amino acid substitution Gly185Val [89], and more recently Ala893Ser and Met986Val [90]. Login to comment 64 ABCC1 p.Ala893Ser ABCB1 p.Gly185Val ABCB1 p.Met986Val R. Kerb / Cancer Letters 234 (2006) 4-338 naturally-occurring polymorphisms in the human ABCB1 gene reported was the amino acid substitution Gly185Val [89], and more recently Ala893Ser and Met986Val [90]. Login to comment 75 ABCB1 p.Ser400Asn ABCB1 p.Asn21Asp ABCB1 p.Ser1141Thr Table 3 Overview of the 15 most common ABCB1 (MDR1) genetic variants Position Location Effect Allelic frequency (%) CA AS AA K129TOC 50 UTR Non-coding 5 4 7 K1GOA 50 UTR Non-coding 8 5 0 61AOG Exon 2 Asn21Asp 8 2 2.5 Exon 5-25GOT Intron 4 16 7 30 Exon 10-44AOG Exon 10 Intron 9 45 69 26 1199GOA Exon 11 Ser400Asn 2.5 0 !1 1236COT Exon 12 Synonymous 46 69 21 Exon 11C44COT Intron 12 5 0 17 Exon 12C24COT Intron 13 52 54 54 Exon 13C38AOG Intron 14 50 68 54 Exon 19C24GOA Intron 20 12 7 15 2677GOT/A Exon 21 Ala893Ser/Thr 46/2 45/7 O1 3421TOA Exon 26 Ser1141Thr 0 0 10 3435COT Exon 26 Synonymous 56 40 10 IVSC21TOC Intron 28 0 8 0 AA, African American; AS, Asian; CA, Caucasian. Login to comment 76 ABCC1 p.Ala893Ser ABCB1 p.Ser400Asn ABCB1 p.Asn21Asp ABCB1 p.Ser1141Thr Table 3 Overview of the 15 most common ABCB1 (MDR1) genetic variants Position Location Effect Allelic frequency (%) CA AS AA K129TOC 50 UTR Non-coding 5 4 7 K1GOA 50 UTR Non-coding 8 5 0 61AOG Exon 2 Asn21Asp 8 2 2.5 Exon 5-25GOT Intron 4 16 7 30 Exon 10-44AOG Exon 10 Intron 9 45 69 26 1199GOA Exon 11 Ser400Asn 2.5 0 !1 1236COT Exon 12 Synonymous 46 69 21 Exon 11C44COT Intron 12 5 0 17 Exon 12C24COT Intron 13 52 54 54 Exon 13C38AOG Intron 14 50 68 54 Exon 19C24GOA Intron 20 12 7 15 2677GOT/A Exon 21 Ala893Ser/Thr 46/2 45/7 O1 3421TOA Exon 26 Ser1141Thr 0 0 10 3435COT Exon 26 Synonymous 56 40 10 IVSC21TOC Intron 28 0 8 0 AA, African American; AS, Asian; CA, Caucasian. Login to comment 78 ABCC1 p.Ala893Ser ABCC1 p.Ala893Thr Clinical investigations of genotype-related function of MDR1 have been performed mainly focusing on the silent 3435COT and a non-synonymous variant, the transversion 2677GOT (Ala893Ser) and 2677GOA (Ala893Thr). Login to comment 169 ABCC1 p.Ala893Ser It should be noted that, in the majority of subjects, this synonymous 3435COT polymorphism is linked to the nonsynonymous exon 21 2677GOT/A polymorphism, which results in Ala893Ser/Thr, as well as another conservative SNP, 1236COT [47]. Login to comment 209 ABCC2 p.Cys1515Tyr ABCC3 p.His68Tyr ABCC3 p.Arg1297His ABCC2 p.Phe981Leu ABCC2 p.Val471Ile Nonsynonymous SNPs that occur with a frequency of clearly more than 1% have only reported for ABCC2: Val471Ile (1249GOA; 14% in African American,13% in Asian,and 24% in Caucasian), Phe981Leu (2943COG; 4% in Caucasian), and Cys1515Tyr (4544GOA; 2% in Caucasian), as well as for ABCC3, His68Tyr (202COT; 2% in Caucasian) and Arg1297His (3890GOA, 5% in Caucasian). Login to comment