ABCMdb

PMID: 25078270

Kunicka T, Vaclavikova R, Hlavac V, Vrana D, Pecha V, Raus K, Trnkova M, Kubackova K, Ambrus M, Vodickova L, Vodicka P, Soucek P
Non-coding polymorphisms in nucleotide binding domain 1 in ABCC1 gene associate with transcript level and survival of patients with breast cancer.
PLoS One. 2014 Jul 31;9(7):e101740. doi: 10.1371/journal.pone.0101740. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCC1 p.Gly671Val For instance, Gly671Val (dbSNP: rs45511401) SNP located near the nucleotide binding domain 1 (NBD1, Figure 1) which is important for the ATPase activity was associated with reduced levels of ABCC1 transcript [14]. Login to comment 40 ABCC1 p.Arg723Gln Moreover, several ABCC1 SNPs including Arg723Gln (rs4148356) located between the Walker A and B motifs in NBD1 have been shown to affect the resistance to a number of anticancer drugs [20]. Login to comment 80 ABCC1 p.Arg723Gln SNP ID Localization Genotype distribution Missing Type * MAF # genotypes Genotype n % n (%) rs35623 intron 15 GG 422 79.5 9 (1.7) NC T (0.11) GT 100 18.8 TT 9 1.7 rs35625 intron 15 TT 217 40.9 9 (1.7) NC C (0.37) TC 234 44.1 CC 80 15.1 rs11866794 intron 15 GG 415 78.2 9 (1.7) NC C (0.12) GC 108 20.3 CC 8 1.5 rs4148350 intron 15 GG 466 89.3 18 (3.3) NC T (0.06) GT 52 10.0 TT 4 0.8 rs4148351 intron 15 CC 416 79.5 17 (3.1) NC T (0.11) CT 97 18.6 TT 10 1.9 rs35626 intron 16 GG 261 50.1 19 (3.5) NC T (0.29) GT 220 42.2 TT 40 7.7 rs35628 intron 16 AA 441 84.0 15 (2.8) NC G (0.09) AG 77 14.7 GG 7 1.3 rs4148353 intron 16 GG 426 81.3 16 (3.0) NC T (0.10) GT 91 17.4 TT 7 1.3 rs4148356 exon 17 GG 516 96.3 4 (0.7) R723Q A (0.02) GA 19 3.5 AA 1 0.2 rs11075295 intron 17 AA 375 69.8 3 (0.6) NC G (0.17) AG 139 25.9 GG 23 4.3 rs3888565 intron 18 GG 380 70.6 2 (0.4) NC A (0.17) GA 134 24.9 AA 24 4.5 minor allele frequency (MAF).0.05 in HapMap CEU sample with minimally 75% genotype data were identified. Login to comment 207 ABCC1 p.Arg723Gln Despite the fact that the ABCC1 rs4148356 SNP located between the Walker A and B motifs in NBD1 has been shown to affect resistance to a number of anticancer drugs [20], we did not find association of this SNP with DFS in breast cancer patients. We confirmed the previously observed lack of effect of rs4148356 (R723Q, 2168G.A) on ABCC1 expression [44]. Login to comment 215 ABCC1 p.Cys43Ser ABCC1 p.Thr73Ile ABCC1 p.Arg1058Gln ABCC1 p.Cys1047Ser ABCC1 p.Arg633Gln ABCC1 p.Arg230Gln ABCC1 p.Ala989Thr ABCC1 p.Ser1512Leu ABCC1 p.Ser92Phe Ten other non-synonymous SNPs leading to amino acid substitutions (Cys43Ser (G128C, rs41395947), Thr73Ile (C218T, rs41494447), Ser92Phe (C257T, rs8187844), Thr117Met (C350T, no rs number available), Arg230Gln (G689A, rs8187848), Arg633Gln (G1898A, rs112282109), Ala989Thr (G2965A, rs35529209), Cys1047Ser (G3140C, rs13337489), Arg1058Gln (G3173A, rs41410450), and Ser1512Leu (C4535T, rs369410659)) followed earlier had no effect on ABCC1 expression either, indicating that single amino acid substitutions may not necessarily influence the activity of the final protein [44]. Login to comment