ABCMdb

ABCB3 p.Arg651Cys

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Publications

PMID: 21796142 [PubMed] Kim JH et al: "Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline."

No. Sentence Comment

12 Value significant at Po0.05 is shown in bold. Table 2 Polymorphisms of TAP1 and TAP2 investigated in this study Gene SNP ID Polymorphism Position Amino-acid change Genotype (n) MAF HWE* TAP1 rs2071481 A/G Intron AA (109) AG (60) GG (10) 0.223 0.648 rs2284190 T/C Intron TT (132) TC (50) CC (3) 0.151 0.479 rs4148880 A/G Exon Ile393Val AA (124) AG (55) GG (8) 0.190 0.549 rs2395269 T/G Intron TT (125) TG (52) GG (8) 0.184 0.391 rs12529313 A/G Intron AA (124) AG (55) GG (8) 0.190 0.549 rs2071482 G/T Intron GG (125) GT (53) TT (7) 0.181 0.643 rs735883 C/T Intron CC (78) CT (85) TT (22) 0.349 0.875 rs1800453 A/G Exon Asp697Gly AA (130) AG (48) GG (7) 0.168 0.341 rs4711312 A/G Intron AA (130) AG (48) GG (7) 0.168 0.341 rs1057373 G/T 3'UTR GG (132) GT (46) TT (7) 0.162 0.248 rs2071540 G/A 3'near GG (61) GA (94) AA (30) 0.416 0.535 rs2071541 T/C 3'near TT (127) TC (50) CC (8) 0.178 0.289 TAP2 rs3763366 C/G 5'near CC (51) CG (94) GG (44) 0.481 0.957 rs4148870 G/A Intron GG (55) GA (89) AA (43) 0.468 0.546 rs2071544 G/A Intron GG (50) GA (95) AA (44) 0.484 0.931 rs2071465 G/C Intron GG (89) GC (78) CC (19) 0.312 0.755 rs2239701 A/G Intron AA (44) GA (101) GG (42) 0.495 0.272 rs241424 C/T Intron CC (49) CT (94) TT (44) 0.487 0.934 rs3819721 G/A Intron GG (101) GA (72) AA (14) 0.267 0.814 rs241426 T/A Intron TT (74) TA (91) AA (22) 0.361 0.453 rs3819714 G/A Intron GG (63) GA (98) AA (26) 0.401 0.214 rs241429 C/T Intron CC (74) CT (86) TT (27) 0.374 0.804 rs4148871 C/T Intron CC (122) CT (62) TT (3) 0.182 0.118 rs241430 G/A Intron GG (68) GA (95) AA (25) 0.386 0.362 rs241432 A/C Intron AA (66) AC (95) CC (28) 0.399 0.512 rs4148873 G/A Exon Val379Ile GG (141) GA (43) AA (3) 0.131 0.893 rs2228397 G/T Exon Synonymous (Gly386Gly) GG (90) GT (78) TT (19) 0.310 0.730 rs241433 T/G Intron TT (63) TG (96) GG (28) 0.406 0.381 rs1015166 C/T Intron CC (99) CT (75) TT (13) 0.270 0.813 rs4576294 G/A Exon Synonymous (Asn436Asn) GG (177) GA (10) AA (0) 0.027 0.707 rs241436 C/T Intron CC (57) CT (82) TT (48) 0.476 0.098 rs241437 C/T Intron CC (52) CT (92) TT (43) 0.476 0.851 rs241438 G/A Intron GG (49) GA (91) AA (48) 0.497 0.662 rs241439 C/A Intron CC (52) CA (91) AA (44) 0.479 0.733 rs4148876 C/T Exon/intron Arg651Cys CC (132) CT (52) TT (3) 0.155 0.403 rs241454 T/C 3'UTR/intron TT (71) TC (92) CC (24) 0.374 0.492 rs10484565 G/A 3'UTR/intron GG (146) GA (38) AA (3) 0.118 0.772 rs2857101 A/G 3'UTR/intron AA (71) AG (94) GG (24) 0.376 0.407 rs13501 G/A 3'UTR/intron GG (56) GA (96) AA (35) 0.444 0.586 rs1894411 A/G 3'near/intron AA (141) AG (42) GG (5) 0.138 0.390 rs2856993 C/G 3'near/intron CC (89) CG (83) GG (15) 0.302 0.473 rs2857103 G/T 3'near/intron GG (56) GT (96) TT (35) 0.444 0.586 rs2621321 T/C 3'near TT (81) TC (88) CC (18) 0.332 0.399 Abbreviations: HWE, Hardy-Weinberg equilibrium; MAF, minor allele frequency; SNP, single-nucleotide polymorphism; UTR, untranslated region. Login to comment
54 Four non-synonymous SNPs in coding regions (Ile393Val and Asp697Gly in TAP1; Val379Ile and Arg651Cys in TAP2) were included. Login to comment

PMID: 18650831 [PubMed] Ivansson EL et al: "MHC loci affecting cervical cancer risk: distinguishing the effects of HLA-DQB1 and non-HLA genes TNF, LTA, TAP1 and TAP2."

No. Sentence Comment

138 Genomic location on chr6 Minor allele frequency in controls Genotyping method LTA IntronA A/G rs909253 31648292 0.376 Inflastripa TNF À857 C/T rs1799724 31650461 0.067 TaqMan TNF À572 A/C rs4248161 31650746 0.014 TaqMan TNF À308 G/A rs1800629 31651010 0.167 Inflastripa TNF À238 G/A rs361525 31651080 0.047 Inflastripa TAP2 T665A T/C rs241447 32904729 0.244 TaqMan TAP2 R651C G/A rs4148876 32904771 0.070 TaqMan TAP2 A565T C/T rs2228396 32905787 0.112 TaqMan TAP2 V379I C/T rs1800454 32908390 0.164 TaqMan TAP1 D697G T/C rs1135216 32922953 0.167 TaqMan TAP1 I393V T/C rs1057141 32926752 0.190 TaqMan Abbreviations: HLA, human leukocyte antigen; LTA, lymphotoxin-alpha; TAP, transporter associated with antigen processing; TNF, tumor necrosis factor. Login to comment

PMID: 17581627 [PubMed] Kramer U et al: "Strong associations of psoriasis with antigen processing LMP and transport genes TAP differ by gender and phenotype."

No. Sentence Comment

71 Owing to a recombination hot spot, a second independent Table 1 Genotype frequencies in cases and controls of psoriasis patients2 ordered by frequency Locus/effect Genotype Genotype frequencies Odds ratio (95% confidence limits) w2 P-value P-value after Bonferroni correction (six independent tests) Cases Control LMP2_60/Arg60His G/G 0.64 0.52 2.50 (1.41-4.45) 9.73 0.0018 0.0108 A/G 0.33 0.41 A/A 0.04 0.07 TAP1_637/Asp637Gly A/A 0.71 0.79 2.50 (1.25-5.02) 6.64 0.0100 0.0600 A/G 0.26 0.19 G/G 0.03 0.02 LMP7_49/Lys49Gln C/C 0.66 0.74 1.93 (0.98-3.80) 3.66 0.0556 0.3336 A/C 0.31 0.24 A/A 0.03 0.02 TAP2_565/Thr565Ala C/C 0.88 0.86 1.25 (0.52-2.99) 0.24 0.6215 - C/T 0.12 0.13 T/T 0.01 0.01 TAP2_651/Arg651Cys C/C 0.89 0.87 1.40 (0.50-3.90) 0.40 0.5621 - C/T 0.11 0.13 T/T 0.00 0.00 TAP2_665/Thr665Ala A/A 0.37 0.53 3.18 (1.84-5.48) 17.23 0.00002 0.00012 A/G 0.49 0.41 G/G 0.14 0.06 TAP2_687/À687Gln T/T 0.37 0.53 3.27 (1.90-5.63) 18-27 0.00002 0.00012 C/T 0.49 0.41 C/C 0.14 0.06 Genotyping analyses were carried out by using the MassARRAY system (Sequenom, San Diego, CA, USA). Login to comment

PMID: 16923719 [PubMed] Yilmaz I et al: "No difference in polymorphism frequency in a Turkish population with allergic rhinitis."

No. Sentence Comment

2 To clarify the contribution of TAP polymorphisms to allergic rhinitis, we determined the frequency of TAP1 (I333V) and TAP2 (A565T and R651C) polymorphisms in a Turkish population with allergic rhinitis. Login to comment
8 Restriction fragment size analysis was performed for TAP1 (I333V) or TAP2 (A565T and R651C) by visualization of Sau3A1-, Scal-, or Smal- digested PCR products, respectively, after separation by polyacrylamide gel electrophoresis on a 10% ethidium bromide-stained gel. Login to comment
21 Thus, the contribution of TAP1 (I333V) and TAP2 (A565T and R651C) polymorphisms to disease progression remains controversial. Login to comment
3 To clarify the contribution of TAP polymorphisms to allergic rhinitis, we determined the frequency of TAP1 (I333V) and TAP2 (A565T and R651C) polymorphisms in a Turkish population with allergic rhinitis. Login to comment
9 Restriction fragment size analysis was performed for TAP1 (I333V) or TAP2 (A565T and R651C) by visualization of Sau3A1-, Scal-, or Smal- digested PCR products, respectively, after separation by polyacrylamide gel electrophoresis on a 10% ethidium bromide-stained gel. Login to comment

PMID: 8168860 [PubMed] Szafer F et al: "New allelic polymorphisms in TAP genes."

No. Sentence Comment

6 The latter revealed an additional C + T transition at nucleotide position 2047, changing the amino acid residue at position 651 from Arg to Cys (Fig. 1). Login to comment

PMID: 12826376 [PubMed] Lajoie J et al: "New transporter associated with antigen processing (TAP-2) polymorphisms in the Shona people of Zimbabwe."

No. Sentence Comment

101 It is interesting to note that 565Thr and 651Cys variants in Rwandans do not follow TABLE 4 Allelic frequencies of TAP 2 single nucleotide polymorphisms in different populations Population Number of alleles T257I R313H A374T V379I A565T A609V R651C T665A Zimbabwean 384 3.4% 4.7% 9.1% 19.3% 13.5% 3.9% 0% 20.3% Caucasiansa 152 - - 0% 18.4% 0.7% - 5.3% 15.1% Braziliansa 296 - - 2.0% 13.2% 10.1% - 4.0% 32.4% Rwandansa 570 - - 6.7% 11.8% 0% - 10.0% 30.2% Zambiansa 234 - - 6.8% 10.2% 18.3% - 0% 23.5% a From [41]. Login to comment

PMID: 23799215 [PubMed] Kamei H et al: "Association of transporter associated with antigen processing (TAP) gene polymorphisms in donors with acute cellular rejection in living donor liver transplantation."

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4 Methods: We examined 155 LDLTs treated at Nagoya University or Kyoto University from 2004 to 2009 and analyzed the gene polymorphisms of TAP-1 p.Ile333Val, TAP-1 p.Asp697Gly, TAP-2 p.Arg651Cys, and TAP-2 p.Gln687Stop. Login to comment
28 Genotyping Genomic DNA was extracted from peripheral blood samplesobtainedfromthedonors.IsolatedDNAwasusedfor genotyping of transporter associated with antigen processing 1 (TAP-1) p.Ile333Val (rs#1057141), TAP-1 p.Asp697Gly (rs#1135216), TAP-2 p.Arg651Cys (rs#4148876), and TAP-2 p.Gln687Stop (rs#241448). Login to comment
29 Genotype for TAP-1 p.Ile333Val, TAP-1 p.Asp697Gly, TAP-2 p.Arg651Cys, and TAP-2 p.Gln687Stop was performed using a PCR-restriction fragment length polymorphism (RFLP) method. Login to comment
48 DISCUSSION We analyzed the associations of the gene polymorphisms TAP-1 p.Ile333Val, TAP-1 p.Asp697Gly, TAP-2 p.Arg651Cys and TAP-2 p.Gln687Stop in donors with early ACR in cases of LDLT. Login to comment
70 Relationship between gene polymorphisms of donor and acute cellular rejection (ACR) Gene Polymorphisms rs# n n Rejection % p* TAP1 p.Ile333Val 1057141 0.523 Ile/Ile 124 35 28.2 Ile/Val 26 10 38.5 Val/Val 5 2 40.0 TAP1 p.Asp697Gly 1135216 0.025 Asp/Asp 124 31 25.0 Asp/Gly 27 14 51.6 Gly/Gly 4 2 50.0 TAP2 p.Arg651Cys 4148876 0.91 Arg/Arg 119 37 31.1 Arg/Cys 33 9 27.3 Cys/Cys 3 1 33.3 TAP2 p.Gln687Stop 241448 0.19 Gln/Gln 20 7 35.0 Gln/Stop 63 14 22.2 Stop/Stop 72 26 36.1 * P-value from a chi-square test with 2 degrees of freedom Table III. Login to comment

PMID: 23892057 [PubMed] Gojanovich GS et al: "Characterization and allelic variation of the transporters associated with antigen processing (TAP) genes in the domestic dog (Canis lupus familiaris)."

No. Sentence Comment

198 However, there was no overlap between canine (G127R, R373C, I425T and R695H) and human (V379I, A565T, R651C and Q665A) polymorphisms (http://hla.alleles.org/data/txt/tap2_prot.txt). Login to comment
197 However, there was no overlap between canine (G127R, R373C, I425T and R695H) and human (V379I, A565T, R651C and Q665A) polymorphisms (http://hla.alleles.org/data/txt/tap2_prot.txt). Login to comment