ABCMdb

PMID: 12406646

Fromm MF
The influence of MDR1 polymorphisms on P-glycoprotein expression and function in humans.
Adv Drug Deliv Rev. 2002 Nov 18;54(10):1295-310., [PubMed]

Sentences

No. Mutations Sentence Comment

59 ABCB1 p.Ser400Asn The G1199A mutation (Ser400Asn) is located- ondansetron [30] - losartan [83] - morphine [68] in the cytoplasmic loop close to the first ATP- Antidiarrheal agents - phenytoin [30] binding domain. The most frequent SNP (G2677T/ - loperamide [30] - rifampin [41] A) leading to amino acid exchanges from Ala to Ser Table 3 Summary of currently known MDR1 genetic variants in Caucasians [ Location Position Allele Effect Allelic Genotype Genotype Ref. Frequency Frequency (%) (%) 1 exon 1b exon 1b/12 T 94.1 T/T 88.2 [21] C 5.9 T/C 11.8 C/C 0.0 2 intron 1 Exon 2-1 G initiation 91.0 G/G 82.0 [21-23] A of 9.0 G/A 18.0 translation A/A 0.0 3 exon 2 cDNA 61 A 21 Asn 88.8 A/A 78.5 [21-23,84] G 21 Asp 11.2 A/G 20.6 G/G 0.9 4 intron 4 exon 5-35 G 99.4 G/G 98.8 [21] C 0.6 G/C 1.2 C/C 0.0 5 intron 4 exon 5-25 G 83.5 G/G 70.5 [21] T 16.5 G/T 26.0 T/T 3.5 6 intron 6 exon 6 1 139 C 62.8 C/C 39.0 [21,22] T 37.2 C/T 47.5 T/T 13.4 7 intron 6 exon 6 1 145 C 98.8 C/C 97.6 [21] T 1.2 C/T 2.4 T/T 0.0 8 exon 7 cDNA 548 A 183 Asn 98.6 A/A n.a. [23] G 183 Ser 1.4 A/G n.a. G/G n.a. 9 exon 11 cDNA 1199 G 400 Ser 94.5 G/G 88.9 [21-23] A 400 Asn 5.5 G/A 11.1 A/A 0.0 10 exon 12 cDNA 1236 C wobble 59.0 C/C 34.4 [21-23] T 41.0 C/T 49.2 T/T 16.4 11 intron 12 exon 12 1 44 C 95.1 C/C 90.2 [21,22] T 4.9 C/T 9.8 T/T 0.0 12 exon 13 cDNA 1474 C 492Arg 98.6 C/C n.a. [23] T 492Cys 1.4 C/T n.a. T/T n.a. 13 intron 16 exon 17-76 T 53.8 T/T 28.4 [21,22] A 46.2 T/A 50.8 A/A 20.8 14 intron 17 exon 17 1 137 A 99.4 A/A 98.8 [21] G 0.6 A/G 1.2 G/G 0.0 15 exon 21 cDNA2650 C wobble 97.3 C/C n.a. [23] T 2.7 C/T n.a. T/T n.a. 16 exon 21 cDNA 2677 G 893 Ala 56.5 G/G 30.9 [22,23] T 893 Ser 41.6 G/T 49.2 A 893 Thr 1.9 T/T 16.1 G/A 2.0 T/A 1.8 A/A 0.0 Table 3. Login to comment 322 ABCB1 p.Asn21Asp ` [84] X. Decleves, S. Chevillard, C. Charpentier, P. Vielh, J.L. [87] J. Shon, H. Chun, K. Kim, E. Kim, Y. Yoon, I. Jang, S. Shin, Laplanche, A new polymorphism (N21D) in the exon 2 of J. Shin, The PK and PD of fexofenadine in relation to MDR1 the human MDR1 gene encoding the P-glycoprotein, Hum. genetic polymorphism in Korean healthy subjects, Clin. Mutat. Login to comment 324 ABCB1 p.Asn21Asp `[84] X. Decleves, S. Chevillard, C. Charpentier, P. Vielh, J.L. [87] J. Shon, H. Chun, K. Kim, E. Kim, Y. Yoon, I. Jang, S. Shin, Laplanche, A new polymorphism (N21D) in the exon 2 of J. Shin, The PK and PD of fexofenadine in relation to MDR1 the human MDR1 gene encoding the P-glycoprotein, Hum. Login to comment