ABCB2 p.Val518Leu
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PMID: 24675550
[PubMed]
Forni D et al: "An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection."
No.
Sentence
Comment
293
Two distantly related haplotypes are observed in YRI (YRI-hapI and YRI-hapII, Figure 7C) and both carry at least one distinctive nonsynonymous variant (V518L and G77R plus Q788K, respectively).
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ABCB2 p.Val518Leu 24675550:293:152
status: NEW398 Interestingly, one of the putative balancing selection targets in TAP1, the V518L variant, is located in the peptide binding domain, close to a positively selected site (516Q), and defines a minor haplotype in YRI; this variant might affect the affinity of TAP1 for one or more antigenic peptides.
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ABCB2 p.Val518Leu 24675550:398:76
status: NEW