ABCMdb

PMID: 17495421

Fukushima-Uesaka H, Saito Y, Maekawa K, Hasegawa R, Suzuki K, Yanagawa T, Kajio H, Kuzuya N, Noda M, Yasuda K, Tohkin M, Sawada J
Genetic variations of the ABC transporter gene ABCC3 in a Japanese population.
Drug Metab Pharmacokinet. 2007 Apr;22(2):129-35., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC3 p.Ser1219Arg ABCC3 p.Thr1406Met ABCC3 p.Val799Met Of these 46 variations, ve novel nonsynonymous variations, 2221CÀT (Gln741Stop), 2395GÀA (Val799Met), 2798ä2799delAG (Gln933ArgfsX64), 3657CÀA (Ser1219Arg), and 4217CÀT (Thr1406Met), were found as heterozygous variations. Login to comment 13 ABCC3 p.Ser1219Arg The allele frequencies were 0.011 for Ser1219Arg and 0.006 for the other four variations. Gln741Stop induces a stop codon at codon 741. Login to comment 50 ABCC3 p.Ser1219Arg ABCC3 p.Thr1406Met ABCC3 p.Val799Met Five novel nonsynonymous variations, 2221CÀT (Gln741Stop), 2395GÀA (Val799Met), 2798ä2799delAG (Gln933ArgfsX64), 3657CÀA (Ser1219Arg), and 4217CÀT (Thr1406Met), were found as heterozygous variations. Login to comment 51 ABCC3 p.Ser1219Arg The allele frequencies were 0.011 for Ser1219Arg, and 0.006 for the other four variations. Gln741Stop induces the early stop codon at codon 741, Table2.SummaryofABCC3variationsdetectedinthisstudy SNPIDPosition ThisStudy dbSNP (NCBI) Pharm GKBbReferenceLocationNTä010783.14 Fromthetranslational initiationsiteorfromthe endofthenearestexonc Nucleotidechange Aminoacid changeFrequency MPJ6äAC3001rs1989983145?-anking7363809|1767GAAGTCCCAGAGGÀACATCAAGGAGCT0.169 MPJ6äAC3002a 5?-anking7363965|1611CCGTAACAAGGTGÀATAAAGCTCTGTA0.011 MPJ6äAC3003145?-anking7364363|1213GGTGAAACTGGACÀGAGACCTGTGGGC0.118 MPJ6äAC3004rs4148403185?-anking7364442|1134AGCCCCAACAAGCÀTGGTGCTGAGTTG0.101 MPJ6äAC3005rs4148404185?-anking7364679|897TCACCTGTCCTTWdelCWCCCCCCCAACCC0.118 MPJ6äAC3006a 5?-anking7364711|865GCTGAAGCAGAGGÀAGAATTCACACAT0.006 MPJ6äAC3007rs9895420145?-anking7365316|260CATCCCCCTGGCTÀATGGCCCAGGGGC0.118 MPJ6äAC3008rs4793665145?-anking7365365|211CAAGGGCCCCCCCÀTACCTCTGCCCCA0.837 MPJ6äAC3009rs11568609#Exon1736560732CCGGGGAGCTCGGÀACTCCAAGTTCTGGly11Asp0.006 MPJ6äAC3010a Intron17365799IVS1{179GCGCCGCCCGGAGÀACCGGGTCCCACG0.045 MPJ6äAC3011a Exon27386560135CTGCATCTACCTGÀTTGGGTCGCCCTGLeu45Leu0.028 MPJ6äAC3012rs2301836#18Intron37387632IVS3|53GGGAGAAATGGAGÀAGCAGGTCCAGAT0.174 MPJ6äAC3013rs739923#18Intron57389052IVS5|22CCTGATTCCCCCGÀATCCTATTCTCTC0.253 MPJ6äAC3014a Intron77390179IVS7{172AGGCCTGGATGGCÀGGCTAGTTCTCCC0.331 MPJ6äAC3015rs2301837#18Intron77391544IVS7|18TAACCCACTGCTCÀTCTTCCTCCCTGG0.146 MPJ6äAC3016a Exon1073946691257GGATGCCCAGCGCÀTTTCATGGACCTTArg419Arg0.006 MPJ6äAC3017rs414841418Intron127398481IVS12|21ACTCTACCCTGAWdelCWACCACCTCCACG0.028 MPJ6äAC3018rs16949205Intron147399266IVS14{110TCTTCCTCTGTTCÀGACATCTGCTTCG0.034 MPJ6äAC3019rs87945918Intron147399413IVS14|79CTGTCCTCCTTTCÀTCCCTGCCCCCCA0.815 MPJ6äAC3020a Exon1774001142188GCCTGTGCCTTGCÀTTAGCTGACCTGGLeu730Leu0.006 MPJ6äAC3021a Exon1774001472221CCTGGTGGGGATCÀTAGACAGAGATTGGln741Stop0.006 MPJ6äAC3022rs4794176#14Intron177400201IVS17{34CTAAGAGGCTAGGÀCGCATAGAGCTGC0.815 MPJ6äAC3023a Intron177403602IVS17|8CACCCCCCGCCTCÀTCCTCCAGGGCAT0.006 MPJ6äAC3024a Exon1874037562388CGTCATCGGGCCAÀGGAAGGCGTGCTGPro796Pro0.011 MPJ6äAC3025a Exon1874037632395GGGCCAGAAGGCGÀATGCTGGCAGGCAVal799Met0.006 MPJ6äAC3026a Intron187403874IVS18{97AGACTTGGAGGTGÀATGGGGGGCGCAA0.022 MPJ6äAC3027rs2240801#18Intron187404080IVS18|28GGAGGGTGGTAGGÀAGGTGAGAGCCTG0.017 MPJ6äAC3028a Intron197404392IVS19{95CCTAGTGTTGTGCÀTCAGGCAGGTTCT0.449 MPJ6äAC3029rs4148415#18Intron197405878IVS19|123GCCCTTTCAATCCÀTCCCTCATTTTAT0.478 MPJ6äAC3030a Intron197405928IVS19|73TTCATTAGAGTGGÀCGGAATGGGAGAT0.006 MPJ6äAC3031a Exon2074060772676TCTGACAGACAATÀCGATCCAGTCACCAsn892Asn0.006 MPJ6äAC3032rs2072365#18Intron207406144IVS20{29TCCCAGCCCTCCCÀTGGAGGCTGTATC0.478 MPJ6äAC3033rs2072366#18Intron207406168IVS20{53CAGGCCTCCCCAAÀGGCCCTGCCAGAT0.169 MPJ6äAC3034a Exon217406353ä74063542798ä2799AGAGAAGGTGCWdelAGWGTGACAGAGGCGln933ArgfsX640.006 MPJ6äAC3035rs4148416#18Exon2274067013039CCTGAGGCTGGGCÀTGTCTATGCTGCTGly1013Gly0.096 MPJ6äAC3036rs8077268#14Intron227406800IVS22{71GGCCCCCCAAACCÀTGTGCCCTTGCAT0.017 MPJ6äAC3037a Intron237407236IVS23{9GCAGGTGTGGGGTÀAGGGCGTGATTCC0.006 MPJ6äAC3038rs967935#18Intron247408666IVS24|66TGTCCCTCCTTTCÀTCCCTAAGCAGAA0.096 MPJ6äAC3039rs11568583#Intron247408728IVS24|4ATCTGATCCCCCAÀGTAGGTGGCTGAG0.039 MPJ6äAC3040a Exon2574088103657CATCGGGAGGAGCÀAAGCCTGAACCCGSer1219Arg0.011 MPJ6äAC3041a Intron257410412IVS25|25GAGATCGCCATACÀTGTATAACCCAGT0.011 MPJ6äAC3042a Intron267410544IVS26{6GACAGAGGTGGGTÀAACTGGCATGAGC0.006 MPJ6äAC3043rs2277624#18Exon2774143833942TCTGCATGTGCACÀTGGTGGCGAGAAGHis1314His0.174 MPJ6äAC3044rs87279318Intron287415158IVS28|190AGGTCTTCGTGATÀCTGGCAAAGCTGA0.101 MPJ6äAC3045a Exon2974154514217CCCACCTGCACACÀTGTTTGTGAGCTCThr1406Met0.006 MPJ6äAC3046rs1051640#18Exon3174217644509AGTAGTAGCTGAAÀGTTTGATTCTCCAGlu1503Glu0.039 a Novelvariationsdetectedinthisstudy. Login to comment 61 ABCC3 p.Ser1219Arg ABCC3 p.Thr1406Met ABCC3 p.Val799Met The other three variations, Val799Met, Ser1219Arg, and Thr1406Met, were located 24 bases downstream of the Walker B motif in NBD1, in the extracellular loop between TM16 and TM17, and 20 bases upstream of the signature sequence in NBD2, respectively. Login to comment 63 ABCC3 p.Thr1406Met By the SIFT program (http:WW blocks.fhcrc.orgWsiftWSIFT.html), which predicts the functional eects of amino acid substitutions based on sequence homology and physical properties of amino acids,19) Thr1406Met is expected to aect protein function. Login to comment 65 ABCC1 p.Gly11Asp We also detected one known nonsynonymous variation 32GÀA (Gly11Asp) at a 0.006 frequency. Login to comment 66 ABCC3 p.His68Tyr ABCC3 p.Arg1297His We did not detect previously reported variations with Æ0.01 frequencies in Caucasians: 202CÀT (His68Tyr, at 0.016), and 3890GÀA (Arg1297His; at 0.052).14) Thus, it is likely that these SNPs are ethnic-specic. Another known polymorphism in the 5?-anking region, |211CÀT, was reported to be signicantly associated with reduced hepatic mRNA expression.14) The allele frequency of |211CÀT in Japanese was 0.837, which is 66z higher than that in Caucasians (frequency: 0.505). Login to comment