ABCMdb

ABCB1 p.Glu108Lys

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Publications

PMID: 16259577 [PubMed] Sakurai A et al: "Genetic polymorphisms of ATP-binding cassette transporters ABCB1 and ABCG2: therapeutic implications."

No. Sentence Comment

106 Position Allele Amino acid Allele frequency in Caucasian populations Allele frequency in Japanese populatins Allele frequency in African populations n % n % n % 61 A G 21 Asn 21 Asp 799 89.7 10.3 193 100 0 100 97.5 2.5 266 T C 89 Met 89 Thr 100 99.5 0.5 145 100 0 100 100 0 307 T C 103 Phe 103 Leu 546 99.9 0.1 48 100 0 ND ND ND 325 G A 108 Glu 108 Lys ND ND ND 37 95.9 4.1 ND ND ND 781 A G 261 Ile 261 Val 100 100 0 145 100 0 100 98.5 1.5 1199 G A 400 Ser 400 Asn 696 95.0 5.0 193 100 0 100 99 1 1985 T G 662 Leu 662 Arg 100 99.5 0.5 145 100 0 100 100 0 2005 C T 669 Arg 669 Cys 100 100 0 145 100 0 100 99 1 2485 A G 829 Ile 829 Val 185 99.2 0.8 ND ND ND ND ND ND 2547 A G 849 Ile 849 Met 100 99.5 0.5 145 100 0 100 100 0 2677 G T A 893 Ala 893 Ser 893 Thr 611 55.1 42.1 2.8 241 40.0 41.1 18.9 100 90 10 0.5 2956 A G 986 Met 986 Val ND ND ND 100 99.5 0.5 ND ND ND 3151 C G 1051 Pro 1051 Ala 100 100 0 145 100 0 100 99.5 0.5 3320 A C 1107 Gln 1107 Pro 461 99.8 0.2 ND ND ND ND ND ND 3322 T C 1108 Trp 1108 Arg 100 100 0 145 100 0 100 99.5 0.5 3421 T A 1141 Ser 1141 Thr 100 100 0 145 100 0 100 88.9 11.1 3751 G A 1251 Val 1251 Ile 100 100 0 145 99 1 100 100 0 3767 C A 1256 Thr 1256 Lys 100 99.5 0.5 145 100 0 100 100 0 Data from [31-38, 203]. Login to comment
129 N21D M89T N44S H2N F103L E108K N183S G185V I261V S400N R492C A599T L662R R669C V801M A893S/T I829V I849M M986V A999T G1063A P1051A Q1107P W1108R I1145M S1141T V1251I T1256K COOH ATP-binding site ATP-binding site EXTRACELLULAR INTRACELLULAR A80E Figure 2. Login to comment
466 HONDA T, DAN Y, KOYABU N et al.: Polymorphism of MDR1 gene in healthy Japanese subjects: a novel SNP with an amino acid substitution (Glu108Lys). Login to comment
437 HONDA T, DAN Y, KOYABU N et al.: Polymorphism of MDR1 gene in healthy Japanese subjects: a novel SNP with an amino acid substitution (Glu108Lys). Login to comment

PMID: 15618700 [PubMed] Honda T et al: "Polymorphism of MDR1 gene in healthy japanese subjects: a novel SNP with an amino acid substitution (Glu108Lys)."

No. Sentence Comment

6 SNP15 (479) SNP Communication Polymorphism of MDR1 Gene in Healthy Japanese Subjects: A Novel SNP with an Amino Acid Substitution (Glu108Lys) Tomohiro HONDA1, Yukihiko DAN1, Noriko KOYABU1, Ichiro IEIRI2, Kenji OTSUBO2, Shun HIGUCHI3, Hisakazu OHTANI1 and Yasufumi SAWADA1 1Division of Biopharmaceutics, Department of Medico-Pharmaceutical Sciences, Graduate School of Pharmaceutical Sciences, Kyushu University, Fukuoka, Japan 2Department of Hospital Pharmacy, Faculty of Medicine, Tottori University, Yonago, Japan 3Division of Clinical Pharmacokinetics, Department of Medico-Pharmaceutical Sciences, Graduate School of Pharmaceutical Sciences, Kyushu University, Fukuoka, Japan Summary: We discovered a novel single nucleotide polymorphism (SNP) at position 325 (G325A) in exon 5 of the multidrug-resistance 1 (MDR1) gene in a study of 37 healthy Japanese subjects. Login to comment
9 This SNP is expected to cause an amino acid substitution (Glu108Lys). Login to comment
32 Subsequent sequence analysis revealed that these subjects were a homozygote and a heterozygote for a novel mutation in exon 5, G325A (Glu108Lys) (Fig. 1B). Login to comment
39 This change of an anionic amino acid, glutamic acid, to a cationic amino acid residue, lysine, might in‰uence the function of P-gp. Although no studies have been conducted to elucidate the eŠect of amino acid substitution at position 108, mutant P-gp lacking the amino acid residues from 78 to 97 on the Ærst extracellular loop has been reported Novel MDR1 Gene Polymorphism G325A (Glu108Lys) SNP17 (481) to show altered ATPase activity in the presence of substrates.9) Site-directed mutations in transmembrane domains and ATP-binding domains often aŠect the extent of drug resistance, substrate speciˆcity and drug-stimulated ATPase activity.10-12) It was reported that the cells expressing Ser893-mutant (G2677T) P-gp exhibited lower digoxin accumulation than wild type MDR1.6) Some mutations were found to alter the susceptibility to P-gp inhibitors without aŠecting the substrate speciˆcity or transport kinetics of P-gp.12) Thus, it should be clariˆed whether the newly identiˆed SNP G325A (Glu108Lys) aŠects the transport activity of P-gp substrates and the susceptibility to P-gp inhibitors. Login to comment
40 In conclusion, we found a novel SNP (G325A) of the MDR1 gene, leading to an amino acid substitution (Glu108Lys). Login to comment

PMID: 15618713 [PubMed] Itoda M et al: "Twelve novel single nucleotide polymorphisms in ABCB1/MDR1 among Japanese patients with ventricular tachycardia who were administered amiodarone."

No. Sentence Comment

18 Much eort has been taken to uncover polymorphisms in the ABCB1WMDR1 gene since a synonymous SNP, which correlated with diminished MDR1 expression levels in the human duodenum, was reported by Homeyer et al.7) To date, information on 19 single nucleotide polymorphisms (SNPs) including 7 nonsynonymous ones (N21D, F103L, S400N, A893S, A893T, A999T and Q1107P) for ABCB1WMDR1 have been reported in Caucasians.8,9) ABCB1WMDR1 gene SNPs including intronic10) and 2 nonsynonymous SNPs (E108K, M986V)11,12) were also reported in Japanese population. Login to comment

PMID: 14563443 [PubMed] Saito K et al: "Detection of the four sequence variations of MDR1 gene using TaqMan MGB probe based real-time PCR and haplotype analysis in healthy Japanese subjects."

No. Sentence Comment

29 In this respect, among the many SNPs of MDR1 already known, we focused on -129TϾC (5Ј flanking region), which is a regulatory SNP (rSNP), and 325GϾA (Glu108Lys) and 2677GϾT/A, which are nonsynonymous coding SNPs (cSNP). Login to comment
194 Polymorphism of MDR1 gene on healthy Japanese subjects: A novel SNP with an amino acid substitution (Glu108Lys). Login to comment
27 In this respect, among the many SNPs of MDR1 already known, we focused on afa;129Tb0e;C (5b18; flanking region), which is a regulatory SNP (rSNP), and 325Gb0e;A (Glu108Lys) and 2677Gb0e;T/A, which are nonsynonymous coding SNPs (cSNP). Login to comment
188 [15] Honda T, Dan Y, Koyabu N, et al. Polymorphism of MDR1 gene on healthy Japanese subjects: A novel SNP with an amino acid substitution (Glu108Lys). Login to comment

PMID: 15217301 [PubMed] Ieiri I et al: "The MDR1 (ABCB1) gene polymorphism and its clinical implications."

No. Sentence Comment

66 Indeed, we recently observed a novel non-synonymous mutation (Glu108Lys) in Japanese subjects. Login to comment
365 Overlapping substrate specifici- gene in healthy Japanese subjects: a novel SNP with an amino- ties and tissue distribution of cytochrome P4503A4 and p- acid substitution (Glu108Lys). Login to comment