ABCB3 p.Arg651Cys
| Predicted by SNAP2: | A: N (87%), C: N (82%), D: N (72%), E: N (82%), F: N (72%), G: N (78%), H: N (87%), I: N (78%), K: N (97%), L: N (78%), M: N (87%), N: N (87%), P: N (66%), Q: N (87%), S: N (97%), T: N (93%), V: N (78%), W: D (66%), Y: N (61%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Genetic association analysis of TAP1 and TAP2 poly... J Hum Genet. 2011 Sep;56(9):652-9. doi: 10.1038/jhg.2011.75. Epub 2011 Jul 28. Kim JH, Park BL, Pasaje CF, Bae JS, Park JS, Park SW, Uh ST, Kim MK, Choi IS, Cho SH, Choi BW, Park CS, Shin HD
Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline.
J Hum Genet. 2011 Sep;56(9):652-9. doi: 10.1038/jhg.2011.75. Epub 2011 Jul 28., [PMID:21796142]
Abstract [show]
Aspirin exacerbated respiratory disease (AERD) induces bronchoconstriction in asthmatic patients characterized with a clinical condition of severe decline in forced expiratory volume in one second (FEV1) after ingestion of aspirin. Two genes consisting a heterodimer, transporter 1 and 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1 and TAP2) within the major histocompatibility complex (MHC) region, have been implicated in immunodeficiency and bronchiectasis development. To investigate the associations of TAP1 and TAP2 genetic polymorphisms with AERD and phenotypic FEV1 decline, a total of 43 common single-nucleotide polymorphisms (SNPs) including 12 SNPs of TAP1 and 31 SNPs of TAP2 were genotyped in 93 AERD patients and 96 aspirin-tolerant asthma controls. Interestingly, regression analysis revealed that polymorphisms and haplotypes of TAP2 were associated with FEV1 decline by aspirin provocation (P=0.002-0.04), with about twofold decline rate of FEV1 in most of minor homozygotes compared with major homozygotes. In addition, nominal evidences of association between TAP2 and AERD development were observed (P=0.02-0.04). However, TAP1 polymorphisms showed no relations to both AERD and FEV1 decline after aspirin challenge (P>0.05). Although further functional evaluations and replications are required, our preliminary findings provide supporting information that variants of TAP2 might be predisposing factors for FEV1 decline-related symptoms.
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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.
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ABCB3 p.Arg651Cys 21796142:12:2218
status: NEW54 Four non-synonymous SNPs in coding regions (Ile393Val and Asp697Gly in TAP1; Val379Ile and Arg651Cys in TAP2) were included.
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ABCB3 p.Arg651Cys 21796142:54:91
status: NEW[hide] MHC loci affecting cervical cancer risk: distingui... Genes Immun. 2008 Oct;9(7):613-23. Epub 2008 Jul 24. Ivansson EL, Magnusson JJ, Magnusson PK, Erlich HA, Gyllensten UB
MHC loci affecting cervical cancer risk: distinguishing the effects of HLA-DQB1 and non-HLA genes TNF, LTA, TAP1 and TAP2.
Genes Immun. 2008 Oct;9(7):613-23. Epub 2008 Jul 24., [PMID:18650831]
Abstract [show]
Cervical cancer has been associated with specific human leukocyte antigen (HLA) haplotypes/alleles and with polymorphisms at the nearby non-HLA loci TNF, LTA, TAP1 and TAP2. Distinguishing effects of individual loci in the major histocompatibility complex (MHC) region are difficult due to the complex linkage disequilibrium (LD) pattern characterized by high LD, punctuated by recombination hot spots. We have evaluated the association of polymorphism at HLA class II DQB1 and the TNF, LTA, TAP1 and TAP2 genes with cervical cancer risk, using 1306 familial cases and 288 controls. DQB1 was strongly associated; alleles *0301, *0402 and (*)0602 increased cancer susceptibility, whereas *0501 and *0603 decreased susceptibility. Among the non-HLA loci, association was only detected for the TAP2 665 polymorphism, and interallelic disequilibrium analysis indicated that this could be due to LD with DQB1. As the TAP2 665 association was seen predominantly in non-carriers of DQB1 susceptibility alleles, we hypothesized that TAP2 665 may have an effect not attributable to LD with DQB1. However, a logistic regression analysis suggested that TAP2 665 was strongly influenced by LD with DQB1. Our results emphasize the importance of large sample sizes and underscore the necessity of examining both HLA and non-HLA loci in the MHC to assign association to the correct locus.
Comments [show]
The TAP2 A565T, which is homologous to position 507 in CFTR, does not significantly affect cervical cancer risk (see Table 2).
hegedus on 2013-03-20 18:59:52
hegedus on 2013-03-20 18:59:52
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.
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ABCB3 p.Arg651Cys 18650831:138:370
status: NEWX
ABCB3 p.Arg651Cys 18650831:138:390
status: NEW[hide] Strong associations of psoriasis with antigen proc... Genes Immun. 2007 Sep;8(6):513-7. Epub 2007 Jun 21. Kramer U, Illig T, Grune T, Krutmann J, Esser C
Strong associations of psoriasis with antigen processing LMP and transport genes TAP differ by gender and phenotype.
Genes Immun. 2007 Sep;8(6):513-7. Epub 2007 Jun 21., [PMID:17581627]
Abstract [show]
Psoriasis, a skin disease with autoimmune features, can be triggered and exacerbated by genetic and environmental factors. Chemicals can break tolerance to self-antigens by interfering with antigen processing and presentation; therefore, proteins involved in antigen processing may affect susceptibility. We test here whether variants of immunoproteasome subunits LMP2 and LMP7, or antigen peptide transport proteins TAP1 (transporters associated with antigen presentation) and TAP2 are associated with psoriasis. We analyzed 7 single-nucleotide polymorphisms in 321 Caucasian (German) psoriasis patients and 235 unrelated controls by time-of-flight mass spectrometry, using the Sequenom platform. We found strong associations of psoriasis with variant alleles of LMP and TAP (OR(TAP_687): 3.3, 95% CI: 1.9-5.7). Genotype effects were generally stronger for males and LMP effects were mainly seen for psoriasis arthropathica. Our results will help define behavioral or drug treatment suggestions to patients and contribute to a better understanding of the role of low molecular weight chemicals in genetic susceptibility to autoimmune diseases.
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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).
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ABCB3 p.Arg651Cys 17581627:71:703
status: NEW[hide] No difference in polymorphism frequency in a Turki... Acta Otolaryngol. 2006 Oct;126(10):1110-1. Yilmaz I, Atac FB, Erkan AN, Verdi H, Cagici CA, Aslan S, Sahin FI, Ozluoglu LN
No difference in polymorphism frequency in a Turkish population with allergic rhinitis.
Acta Otolaryngol. 2006 Oct;126(10):1110-1., [PMID:16923719]
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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.
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ABCB3 p.Arg651Cys 16923719:2:135
status: NEW8 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.
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ABCB3 p.Arg651Cys 16923719:8:85
status: NEW21 Thus, the contribution of TAP1 (I333V) and TAP2 (A565T and R651C) polymorphisms to disease progression remains controversial.
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ABCB3 p.Arg651Cys 16923719:21:59
status: NEW3 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.
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ABCB3 p.Arg651Cys 16923719:3:135
status: NEW9 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.
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ABCB3 p.Arg651Cys 16923719:9:85
status: NEW[hide] New allelic polymorphisms in TAP genes. Immunogenetics. 1994;39(5):374. Szafer F, Oksenberg JR, Steinman L
New allelic polymorphisms in TAP genes.
Immunogenetics. 1994;39(5):374., [PMID:8168860]
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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).
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ABCB3 p.Arg651Cys 8168860:6:124
status: NEW[hide] New transporter associated with antigen processing... Hum Immunol. 2003 Jul;64(7):733-40. Lajoie J, Zijenah LS, Faucher MC, Ward BJ, Roger M
New transporter associated with antigen processing (TAP-2) polymorphisms in the Shona people of Zimbabwe.
Hum Immunol. 2003 Jul;64(7):733-40., [PMID:12826376]
Abstract [show]
Most studies, to date, on transporter associated with antigen processing (TAP2) polymorphism have been conducted in Caucasians or Asians from industrialized countries. Because of the essential role of this molecule in antigen processing, the implication that polymorphism could be a major factor in human disease and the possible genetic variation at this locus among ethnically diverse populations, we undertook a study to analyze the full extent of TAP2 polymorphism in an indigenous Zimbabwean population (Shona ethnic group). Using single-stranded conformation polymorphism and DNA direct sequencing procedures, we detected the presence of 17 nucleotide sequence variations in the entire coding region of TAP2. Of these variants, 11 are nonconservative substitutions with respect to amino acid composition and are located in a region of the protein that could modulate its function. Six new polymorphic sites were identified in exon 1 (codons 15 Val-->Ala, 53 Leu-->Val), exon 3 (codon 220 Arg-->Arg), exon 4 (codons 257 Thr-->Ile, 313 Arg-->His), and exon10 (codon 609 Ala-->Val). Significant differences were seen in the distribution of the known 374Thr, 565Thr and 651Cys variants between African and non-African populations. These differences may reflect evolutionary pressures generated by environmental factors, such as prevalent pathogens in these geographically distinct regions. Further studies are needed to elucidate the net impact of TAP2 polymorphism on the protein's function and it's role in disease pathogenesis.
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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].
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ABCB3 p.Arg651Cys 12826376:101:243
status: NEW[hide] Association of transporter associated with antigen... J Gastrointestin Liver Dis. 2013 Jun;22(2):167-71. Kamei H, Masuda S, Nakamura T, Oike F, Takada Y, Hamajima N
Association of transporter associated with antigen processing (TAP) gene polymorphisms in donors with acute cellular rejection in living donor liver transplantation.
J Gastrointestin Liver Dis. 2013 Jun;22(2):167-71., [PMID:23799215]
Abstract [show]
BACKGROUND & AIMS: Despite improvements in immunosuppressive therapy, acute cellular rejection (ACR) remains an important cause of mortality and graft loss in patients undergoing liver transplantation. Recently, associations between gene polymorphisms and the incidence of ACR have been reported, though few studies have investigated those polymorphisms in donors. Transporter associated with antigen processing (TAP1 and TAP2) are involved in major histocompatibility complex (MHC) class I antigen-mediated processing and presentation to cytotoxic CD8+ T lymphocytes. The aim of this study was to determine whether TAP1 and TAP2 gene polymorphisms in the donor have affected on ACR incidence in living donor liver transplantation (LDLT). 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. RESULTS: Thirty-seven recipients developed early ACR. Of the investigated gene polymorphisms, the TAP-1 p.697Gly allele in donors was associated with incidence of early ACR (OR=2.97, 95%CI 1.33-6.63, p=0.008). CONCLUSIONS: The TAP-1 p.697Gly allele in donors was associated with increased incidence of early ACR following LDLT. The TAP-1 697 polymorphism in donors can be genotyped prior to LDLT, which may contribute to individualize immunosuppression strategies for recipients and donor selection.
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No. Sentence Comment
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.
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ABCB3 p.Arg651Cys 23799215:4:183
status: NEW28 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).
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ABCB3 p.Arg651Cys 23799215:28:247
status: NEW29 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.
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ABCB3 p.Arg651Cys 23799215:29:59
status: NEW48 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.
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ABCB3 p.Arg651Cys 23799215:48:112
status: NEW70 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.
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ABCB3 p.Arg651Cys 23799215:70:307
status: NEW[hide] Characterization and allelic variation of the tran... Dev Comp Immunol. 2013 Dec;41(4):578-86. doi: 10.1016/j.dci.2013.07.011. Epub 2013 Jul 25. Gojanovich GS, Ross P, Holmer SG, Holmes JC, Hess PR
Characterization and allelic variation of the transporters associated with antigen processing (TAP) genes in the domestic dog (Canis lupus familiaris).
Dev Comp Immunol. 2013 Dec;41(4):578-86. doi: 10.1016/j.dci.2013.07.011. Epub 2013 Jul 25., [PMID:23892057]
Abstract [show]
The function of the transporters associated with antigen processing (TAP) complex is to shuttle antigenic peptides from the cytosol to the endoplasmic reticulum to load MHC class I molecules for CD8(+) T-cell immunosurveillance. Here we report the promoter and coding regions of the canine TAP1 and TAP2 genes, which encode the homologous subunits forming the TAP heterodimer. By sampling genetically divergent breeds, polymorphisms in both genes were identified, although there were few amino acid differences between alleles. Splice variants were also found. When aligned to TAP genes of other species, functional regions appeared conserved, and upon phylogenetic analysis, canine sequences segregated appropriately with their orthologs. Transfer of the canine TAP2 gene into a murine TAP2-defective cell line rescued surface MHC class I expression, confirming exporter function. This data should prove useful in investigating the association of specific TAP defects or alleles with immunity to intracellular pathogens and cancer in dogs.
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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).
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ABCB3 p.Arg651Cys 23892057:198:102
status: NEW197 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).
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ABCB3 p.Arg651Cys 23892057:197:102
status: NEW