ABCB2 p.Ile379Ala
| Predicted by SNAP2: | A: N (53%), C: N (72%), D: D (80%), E: D (71%), F: N (97%), G: D (66%), H: D (59%), K: D (75%), L: N (93%), M: N (66%), N: D (66%), P: D (80%), Q: D (66%), R: D (71%), S: N (53%), T: D (53%), V: N (93%), W: D (75%), Y: N (78%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: D, F: N, G: D, H: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, V: N, W: N, Y: N, |
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[hide] TAP1 and TAP2 polymorphism in coeliac disease. Immunogenetics. 1993;38(5):345-50. Powis SH, Rosenberg WM, Hall M, Mockridge I, Tonks S, Ivinson A, Ciclitira PJ, Jewell DP, Lanchbury JS, Bell JI, et al.
TAP1 and TAP2 polymorphism in coeliac disease.
Immunogenetics. 1993;38(5):345-50., [PMID:8344720]
Abstract [show]
Coeliac disease is strongly associated with HLA-DQ2, but it is possible that additional major histocompatibility complex genes also confer disease susceptibility. Encoded close to HLA-DQ are two genes, TAP1 and TAP2, whose products are believed to transport antigenic peptides from the cytoplasm into the endoplasmic reticulum. Comparison of 81 coeliac disease patients with caucasoid controls revealed an increased frequency of the alleles TAP1A and TAP2A in the patient population. However, no significant difference was found when patients were compared with HLA-DR and -DQ matched controls, indicating linkage disequilibrium between TAP1A, TAP2A, and HLA-DQ2. The TAP gene products do not have a major influence on susceptibility or resistance to coeliac disease in a Northern European Caucasoid population.
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No. Sentence Comment
63 On this basis we excluded only one typed individual from the analysis ofHLA matchedindividuals:a HLA-DR3-DQ2/-DR7-DQ2 control who typed TAP1Ile-333/Val-333Asp-637/Gly-637TAP2Val-379/Ile-379Ala-565/Thr-565Thr-665/Thr-665.No significantdifferenceswerefound betweenpatients andmatchedcontrols (Chi-squareor Fisher's exacttest).
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ABCB2 p.Ile379Ala 8344720:63:182
status: NEW