PMID: 7794046

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., [PubMed]
Sentences
No. Mutations Sentence Comment
22 ABCB3 p.Ala565Thr
X
ABCB3 p.Ala565Thr 7794046:22:241
status: NEW
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ABCB3 p.Val379Ala
X
ABCB3 p.Val379Ala 7794046:22:162
status: NEW
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ABCB3 p.Val379Ala
X
ABCB3 p.Val379Ala 7794046:22:195
status: NEW
view ABCB3 p.Val379Ala details
 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 29 ABCB3 p.Thr665Ala
X
ABCB3 p.Thr665Ala 7794046:29:51
status: NEW
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 The same is true for TAP2 when Val-379/1le-379 and Thr-665/Ala-665 are present: two interpretations are possible if Ala-565 is found (we were not able to find Thr-565 in any subject)-TAP2B/TAP2C or TAP2AfTAP2H; as TAP2H is an extremely unusual allele, the former possibility is much more likely. Login to comment