PMID: 8428770

Powis SH, Tonks S, Mockridge I, Kelly AP, Bodmer JG, Trowsdale J
Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2.
Immunogenetics. 1993;37(5):373-80., [PubMed]
Sentences
No. Mutations Sentence Comment
48 ABCB3 p.Thr665Ala
X
ABCB3 p.Thr665Ala 8428770:48:123
status: NEW
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 Previously, we reported sequences of TAP2 which differed by two amino acid substitutions: Glu for Stop at position 687 and Ala for Thr at position 665, and a silent nucleotide substitution, T for G at position 2091 (Powis et al. 1992b). Login to comment 52 ABCB3 p.Val379Ile
X
ABCB3 p.Val379Ile 8428770:52:171
status: NEW
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ABCB2 p.Ile379Val
X
ABCB2 p.Ile379Val 8428770:52:171
status: NEW
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 A third variable site within the protein sequence of TAP2 was inferred from the cDNA sequence published by Bahrain and co-workers (1991), which contained the substitution Ile for Val at position 379. Login to comment 53 ABCB3 p.Ala565Thr
X
ABCB3 p.Ala565Thr 8428770:53:146
status: NEW
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 We now report a further polymorphism within the ATP-binding cassette of TAP2, A for G at nucleotide position 1693, resulting in the substition of Thr for Ala at amino acid position 565. Login to comment