ABCMdb

ABCB3 p.Val379Ala

ClinVar:	c.1135G>A , p.Val379Ile N , Benign
Predicted by SNAP2:	A: N (78%), C: N (82%), D: D (80%), E: D (63%), F: N (78%), G: D (59%), H: D (59%), I: N (93%), K: D (63%), L: N (72%), M: N (72%), N: D (66%), P: D (66%), Q: D (59%), R: D (63%), S: N (72%), T: N (72%), W: D (80%), Y: D (53%),
Predicted by PROVEAN:	A: N, C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, W: D, Y: N,

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Publications
[hide] TAP polymorphism in patients with Behcet's disease... Ann Rheum Dis. 1995 May;54(5):386-8. Gonzalez-Escribano MF, Morales J, Garcia-Lozano JR, Castillo MJ, Sanchez-Roman J, Nunez-Roldan A, Sanchez B
TAP polymorphism in patients with Behcet's disease.
Ann Rheum Dis. 1995 May;54(5):386-8., [PMID:7794046]

Abstract [show]
OBJECTIVE: To determine if susceptibility to Behcet's disease (BD) is associated with polymorphism of HLA-DRB1, HLA-DQB1, DQB1, and TAP1 and TAP2 genes. METHODS: Fifty eight Spanish BD patients and 116 ethnically matched unrelated healthy subjects were typed at the HLA-DRB1 and HLA-DQB1 loci using polymerase chain reaction/sequence specific oligotyping (PCR/SSO). TAP1 and TAP2 alleles were assigned using amplification refractory mutation system-PCR. RESULTS: TAP1C was absent in BD patients, but was found in 12.1% of control subjects (pcorr < 0.05; relative risk = 0.06). Additionally, a linkage disequilibrium between HLA-DQB1*0501 and TAP2B was observed in BD patients (delta = 0.095, pcorr < 0.02), but not in the control group (delta = -0.0031, p > 0.05). CONCLUSIONS: The complete absence of TAP1C alleles in BD patients may indicate that TAP1 polymorphism is not without some significance in the development of BD. Furthermore, the existence of a linkage disequilibrium between HLA-DQB1*0501 and TAP2B in our patients suggests that the gene conferring susceptibility for BD is inherited as an extended haplotype in the population studied.

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Sentences [show]
No. Sentence Comment
22 Alleles were defined by haplotype association of these dimorphic variants: TAPlA = Ile-333/Asp-637, TAPlB = Val-333/Gly-637, and TAP1C = Val-333/Asp-637; TAP2A = Val-379/Ala-565F/hr-665, TAP2B = Val-379/Ala-565/Ala-665, and TAP2C = Ile- 379/Ala-565/Thr-665. Login to comment