ABCB2 p.Val135Ile
| Predicted by SNAP2: | A: N (82%), C: N (87%), D: N (57%), E: N (61%), F: N (87%), G: N (72%), H: N (78%), I: N (97%), K: N (72%), L: N (93%), M: N (87%), N: N (72%), P: N (61%), Q: N (82%), R: N (78%), S: N (82%), T: N (87%), W: N (61%), Y: N (87%), |
| 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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[hide] Three hundred twenty-six genetic variations in gen... J Hum Genet. 2002;47(1):38-50. Saito S, Iida A, Sekine A, Miura Y, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y
Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population.
J Hum Genet. 2002;47(1):38-50., [PMID:11829140]
Abstract [show]
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in nine genes encoding components of ATP-binding cassette subfamily B (ABCB/MDR/TAP) by directly sequencing the entire applicable genomic regions except for repetitive elements. This approach identified 297 SNPs and 29 insertion/deletion polymorphisms among the nine genes. Of the 297 SNPs, 50 were identified in the ABCB1 gene, 14 in TAP], 35 in TAP2, 48 in ABCB4, 13 in ABCB7, 21 in ABCB8, 21 in ABCB9, 13 in ABCB10, and 82 in ABCB11. Thirteen were located in 5' flanking regions, 237 in introns, 37 in exons, and 10 in 3' flanking regions. These variants may contribute to investigations of possible correlations between genotypes and disease-susceptibility phenotypes or responsiveness to drug therapy.
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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