ABCB2 p.Val135Ile
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PMID: 11829140
[PubMed]
Saito S et al: "Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population."
No.
Sentence
Comment
50
Among the 37 SNPs detected in exons, 23 were present in coding regions; 10 of those would cause amino acid substitutions: Ala893Ser/Thr in the ABCB1 gene, (rs2032582); Ile393Val in TAP1 (rs1057141); Val379Ile (rs1800454), Cys651Arg, Thr665Ala (rs241447), and stop687Gln (rs241448) in TAP2; Val135Ile in ABCB8; Val121Met in ABCB9; Ala150Ser in ABCB10; and Val444Ala in ABCB11.
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ABCB2 p.Val135Ile 11829140:50:290
status: NEW51 Of these, 5 were novel (Cys651Arg in TAP2, Val135Ile in ABCB8, Val121Met in ABCB9, Ala150Ser in ABCB10, and Val444Ala in ABCB11).
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ABCB2 p.Val135Ile 11829140:51:43
status: NEW