ABCMdb

PMID: 15618713

Itoda M, Saito Y, Komamura K, Ueno K, Kamakura S, Ozawa S, Sawada J
Twelve novel single nucleotide polymorphisms in ABCB1/MDR1 among Japanese patients with ventricular tachycardia who were administered amiodarone.
Drug Metab Pharmacokinet. 2002;17(6):566-71., [PubMed]

Sentences

No. Mutations Sentence Comment

11 ABCB1 p.Val1251Ile Among these SNPs, only MPJ6äAB1051 resulted in an amino acid alteration, V1251I. Login to comment 18 ABCB1 p.Ser400Asn ABCB1 p.Asn21Asp ABCB1 p.Gln1107Pro ABCB1 p.Phe103Leu ABCB1 p.Ala999Thr ABCB1 p.Met986Val ABCB1 p.Glu108Lys 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 37 ABCB1 p.Val1251Ile Novel SNPs in the ABCB1 gene found in Japanese individuals SNP name AB1017 AB1018 AB1021 AB1052 AB1029 AB1040 AB1053 AB1054 AB1048 AB1055 AB1049 AB1051 Intron 6 Intron 7 Intron 9 Intron 12 Intron 15 Intron 24 Intron 27 Intron 27 Intron 27 Intron 27 Intron 27 Exon 28 Position (NTä017168.9) 7251272 7251566 7266740 7267488 7272554 7301129 7312984 7313001 7313006 7313021 7313054 7313287 Position (cDNA) IVS6 109a IVS7 +14b IVS9 44 IVS12 +17 IVS15 69 IVS24 +16 IVS27 189 IVS27 172 IVS27 167 IVS27 152 IVS27 119 3751 Nucleotide change GÀT GÀA GÀA GÀA TÀC CÀT AÀG GÀA AÀG AÀG CÀT GÀA Amino acid change V1251I Frequency, z G: 99.2 G: 99.2 G:56.7 G: 98.3 T: 98.3 C: 99.2 A: 98.3 G: 97.5 A: 98.3 A: 99.2 C: 99.2 G: 98.3 T: 0.8 A: 0.8 A:43.3 A: 1.7 C: 1.7 T: 0.8 G: 1.7 A: 2.5 G: 1.7 G: 0.8 T: 0.8 A: 1.7 a Numbers following IVS (intervening sequence) represents number of the preceding exon. Login to comment 74 ABCB1 p.Val1251Ile Of these SNPs, only one SNP, MPJ6äAB1051 which was found in 2 subjects, introduced a nonsynonymous amino acid change (V1251I). Login to comment 78 ABCB1 p.Ser400Asn ABCB1 p.Asn21Asp ABCB1 p.Phe103Leu ABCB1 p.Ala999Thr Moreover, the reported nonsynonymous polymorphisms, N21D, F103L, S400N, A893S and A999T have been shown not to substantially aect the activity of P-glycoprotein14) . Login to comment