ABCMdb

ABCC3 p.Ser1219Arg

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Publications

PMID: 18464048 [PubMed] Gradhand U et al: "Pharmacogenomics of MRP transporters (ABCC1-5) and BCRP (ABCG2)."

No. Sentence Comment

172 Figure 3 Predicted membrance topology of MRP3 (ABCC3) based on hydrophobicity analysis. Locations of the non-synonymous polymorphisms are indicated with arrows. See Table 3 for allele frequencies and description of funtional consequences. NH2 COOH NBD NBD in out Membrane Gly11Asp His68Tyr Ser346Phe Lys13Asn Gln513Lys Thr527Arg Ala528Gly Leu548Gln Gln741* Val799Met Gln933Arg_fs Ser1219Arg Arg1297His Pro1300Leu Leu1362Val Ala1398Val Thr1406Met Gly1423Arg Ala1513Asp MRP3 (ABCC3) NBD NBD Lys13Asn NBD NBD Lys13Asn In accordance with the latter finding, Gradhand et al. (2007b) found no impact of the -211C>T polymorphism on the ABCC3 promoter activity in transfected cell lines. Login to comment
174 For example, changing the tryptophan at position 1242 of MRP3 markedly altered the substrate specificity of MRP3 (Oleschuk et al., 2003), as is the case when a similar Table 3 MRP3 (ABCC3) single nucleotide polymorphisms. Location, allele frequency and functional effects. Position in coding sequence Amino acid exchange Location Allele frequency Effect NCBI ID ReferenceAf Ca Jp others 32G>A Gly11Asp Exon 1 - 0 [1] 0.6 [2] - - rs11568609 39G>C Lys13Asn Exon1 - 0.5 [1] 0 [3] - no effect on mRNA or protein in liver [1] 0 [2] 202C>T His68Tyr Exon2 - 1.6 [1] 0[3] 0 [2] - no effect on mRNA or protein in liver [1] 1037C>T Ser346Phe Exon9 - 0.5 [1] 0[3] 0 [2] - no effect on mRNA or protein in liver [1] 1537C>A Gln513Lys Exon12 - 0.5 [1] 0[3] 0 [2] - no effect on mRNA or protein in liver [1] 1580C>G Thr527Arg Exon 12 - - - - - rs1003354 1583C>G Ala528Gly Exon 12 - - - - - rs1003355 1643T>A Leu548Gln Exon 13 - 0.3 [4] 0 [3] 0 [2] - - 2221C>T Gln741* Exon 17 - 0 [1] 0.6 [2] - - 2395G>A Val799Met Exon 18 - 0 [1] 0.6 [2] - - 2798A-2799G del Gln933Arg_fs Exon 21 - 0 [1] 0.6 [2] - frame shift and early stop codon [2] 3657C>A Ser1219Arg Exon 25 - 0 [1] 1.1 [2] - no effect on expression, localization or transport in vesicles from transfected cells [4] 3890G>A Arg1297His Exon27 - 5.2 [1] 8 [4] 0 [3] 0 [2] - no effect on mRNA or protein in liver [1] 3899C>T Pro1300Leu Exon 27 - - - - - rs41280128 4084C>G Leu1362Val Exon 28 - - - - - rs1051625 4193C>T Ala1398Val Exon29 - - - - - rs11549764 4217C>T Thr1406Met Exon29 - 0 [1] 0.6 [2] - - 4267G>A Gly1423Arg Exon29 - 12.5 [1] 0 [3] - no effect on mRNA or protein in liver [1] 0 [2] 4538A>C Ala1513Asp Exon 31 - - - - - rs11656685 1. Login to comment

PMID: 20103563 [PubMed] Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."

No. Sentence Comment

7118 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/Localization ABCC1 MRP1 G128C C43S 1↔ Intracellular C218T T73I 1↔ Normal C257T S92F 2↔ Normal C350T T117M 2↔ Normal G689A R230Q ↔ Normal G1057A V353M N.D. N.D. G1299T R433S 2↔ Normal G1898A R633Q 2↔ Normal G2012T G671V ↔ Normal G2168A R723Q 2 Normal G2965A A989T 2↔ Normal G3140C C1047S 1↔ Normal G3173A R1058Q ↔ Normal C4535T S1512L ↔ Normal ABCC2 MRP2 C-24T N.D. N.D. G1058A R353H N.D. N.D. G1249A V417I ↔ Normal C2366T S789F 12 Intracellular T2780G L927R N.D. N.D. C3298T R1100C N.D. N.D. G3299A R1100H N.D. N.D. T3563A V1188E N.D. N.D. G4348A A1450T ↔ Normal/Intracellular G4544A C1515Y N.D. N.D. ABCC3 MRP3 G32A G11D ↔ Normal C202T H68Y N.D. N.D. G296A R99Q N.D. Normal C1037T S346F 2 Normal C1537A Q513K N.D. N.D. T1643A L548Q N.D. N.D. G1820A S607N 2 Normal C2221T Gln741STOP N.D. N.D. G2293C V765L ↔ Normal G2395A V799M N.D. N.D. C2758T P920S 1 Normal G2768A R923Q 1 Normal C3657A S1219R N.D. N.D. C3856G R1286G ↔ Normal G3890A R1297H N.D. N.D. C4042T R1348C 1 Normal A4094G Q1365R ↔ Normal C4141A R1381S ↔ Intracellular C4217T T1406M N.D. N.D. G4267A G1423R N.D. N.D. ABCC4 MRP4 C52A L18I N.D. N.D. C232G P78A 2↔ Normal T551C M184T N.D. N.D. G559T G187W 2 Reduced A877G K293E ↔ Normal G912T K304N ↔ Normal C1067T T356M N.D. N.D. C1208T P403L 2↔ Normal G1460A G487E 2 Normal A1492G K498E ↔ Normal A1875G I625M N.D. N.D. C2000T P667L N.D. N.D. A2230G M744V ↔ Normal G2269A E757K N.D. Intracellular G2459T R820I N.D. N.D. G2560T V854F N.D. N.D. G2698T V900L N.D. N.D. G2867C C956S 1↔ Normal G3211A V1071I ↔ Normal C3425T T1142M N.D. N.D. G3659A R1220Q N.D. N.D. A3941G Q1314R N.D. N.D. 2, reduced function; 1, increased function; ↔, no change in function; N.D. not determined. Login to comment
7115 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/Localization ABCC1 MRP1 G128C C43S 1࢒ Intracellular C218T T73I 1࢒ Normal C257T S92F 2࢒ Normal C350T T117M 2࢒ Normal G689A R230Q ࢒ Normal G1057A V353M N.D. N.D. G1299T R433S 2࢒ Normal G1898A R633Q 2࢒ Normal G2012T G671V ࢒ Normal G2168A R723Q 2 Normal G2965A A989T 2࢒ Normal G3140C C1047S 1࢒ Normal G3173A R1058Q ࢒ Normal C4535T S1512L ࢒ Normal ABCC2 MRP2 C-24T N.D. N.D. G1058A R353H N.D. N.D. G1249A V417I ࢒ Normal C2366T S789F 12 Intracellular T2780G L927R N.D. N.D. C3298T R1100C N.D. N.D. G3299A R1100H N.D. N.D. T3563A V1188E N.D. N.D. G4348A A1450T ࢒ Normal/Intracellular G4544A C1515Y N.D. N.D. ABCC3 MRP3 G32A G11D ࢒ Normal C202T H68Y N.D. N.D. G296A R99Q N.D. Normal C1037T S346F 2 Normal C1537A Q513K N.D. N.D. T1643A L548Q N.D. N.D. G1820A S607N 2 Normal C2221T Gln741STOP N.D. N.D. G2293C V765L ࢒ Normal G2395A V799M N.D. N.D. C2758T P920S 1 Normal G2768A R923Q 1 Normal C3657A S1219R N.D. N.D. C3856G R1286G ࢒ Normal G3890A R1297H N.D. N.D. C4042T R1348C 1 Normal A4094G Q1365R ࢒ Normal C4141A R1381S ࢒ Intracellular C4217T T1406M N.D. N.D. G4267A G1423R N.D. N.D. ABCC4 MRP4 C52A L18I N.D. N.D. C232G P78A 2࢒ Normal T551C M184T N.D. N.D. G559T G187W 2 Reduced A877G K293E ࢒ Normal G912T K304N ࢒ Normal C1067T T356M N.D. N.D. C1208T P403L 2࢒ Normal G1460A G487E 2 Normal A1492G K498E ࢒ Normal A1875G I625M N.D. N.D. C2000T P667L N.D. N.D. A2230G M744V ࢒ Normal G2269A E757K N.D. Intracellular G2459T R820I N.D. N.D. G2560T V854F N.D. N.D. G2698T V900L N.D. N.D. G2867C C956S 1࢒ Normal G3211A V1071I ࢒ Normal C3425T T1142M N.D. N.D. G3659A R1220Q N.D. N.D. A3941G Q1314R N.D. N.D. 2, reduced function; 1, increased function; ࢒, no change in function; N.D. not determined. Login to comment

PMID: 17495421 [PubMed] Fukushima-Uesaka H et al: "Genetic variations of the ABC transporter gene ABCC3 in a Japanese population."

No. Sentence Comment

12 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 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 Five novel nonsynonymous variations, 2221CÀT (Gln741Stop), 2395GÀA (Val799Met), 2798ä2799delAG (Gln933ArgfsX64), 3657CÀA (Ser1219Arg), and 4217CÀT (Thr1406Met), were found as heterozygous variations. Login to comment
51 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 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