ABCMdb

PMID: 12694888

Backstrom G, Taipalensuu J, Melhus H, Brandstrom H, Svensson AC, Artursson P, Kindmark A
Genetic variation in the ATP-binding cassette transporter gene ABCG2 (BCRP) in a Swedish population.
Eur J Pharm Sci. 2003 Apr;18(5):359-64., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCG2 p.Gln141Lys The sequence variations considered to be most likely to affect transcription level or transport function were a CTCA deletion in the 59 flanking region, a single nucleotide polymorphism (SNP) in a 59 flanking CpG island, two non-synonymous SNPs, changing valine at amino acid position 12 to methionine and glutamine at position 141 to lysine, respectively. Login to comment 7 ABCG2 p.Gln141Lys Genotyping of these sequence variations revealed linkage between the CTCA deletion and the SNP changing glutamine 141 for lysine. Login to comment 62 ABCG2 p.Gln141Lys ABCG2 p.Val12Met Because To determine allele frequencies for the sequence varia- of the highly repetitive sequences surrounding exon 10, Table 2 Sequence variation in the human ABCG2 gene identified in the present study Sequence variant Nucleotide sequence (59 to 39) Affected Effect Identity to a ID DHPLC dbSNP b c Reference sequence Alteration pools g.-19572-19569 actcaCTCAcaaag actca caaag 15 59 Flanking deletion ss 4480605 ]] ]]]]d delCTCA g.-19202G.C gtactGatcag gtactCatcag 5 CpG island SNP rs 2231134 ] ] g.-18845T.C tgagcTcgtcc tgagcCcgtcc 8 59 UTR SNP rs 2231135 ] ] g.-18604delA cggcaAggagg cggca ggagg 1 59 UTR deletion ss 4480606 ] ]d g.34G.A tcccaGtgtca tcccaAtgtca 2 Missense SNP rs 2231137 ] ] Val12Met g.8007G.A ttggaGggaaa ttggaAggaaa 3 Intronic SNP ss 4480607 ] ]d g.8825C.A acttaCagttc acttaAagttc 4 Missense SNP rs 2231142 ] ] Gln141Lys d g.44997G.A ttcttAaaatt ttcttGaaatt 9 Intronic SNP rs 2231164 ] ] a Sequence variant ID in accordance with the nomenclature for sequence variation described at http://www.dmd.nl/mutnomen.html. Login to comment 78 ABCG2 p.Gln141Lys The deletion (g.-19572-19569delCTCA) was identified in the g.8825C.A SNP (Gln141Lys) occurred at a frequency of 59 flanking region. Login to comment 80 ABCG2 p.Val12Met The SNPs g.-19202G.C and g.34G.A (Val12Met) the CCAAT-box, a G/C single nucleotide polymorphism were less common, with frequencies of 0.05 and 0.02, (SNP), g.-19202G.C, was observed. Login to comment 86 ABCG2 p.Gln141Lys A one-base deletion (g.-18604delA) and 1 disequilibrium was observed over the region between SNP (g.-18845T.C) were detected in the untranslated g.-19572-19569delCTCA and g.8825C.A (Gln141Lys) exon 1. Login to comment 115 ABCG2 p.Gln141Lys We also report the allele fre- g.8825C.A and low expression of the Gln141Lys ABCG2 quencies for four identified sequence variations, and the protein (Imai et al., 2002), suggested to be due to the degree of linkage disequilibrium over the region studied. Login to comment 208 ABCG2 p.Gln141Lys Influence of CYP2C9 of Q141K protein and low-level drug resistance. Login to comment