ABCMdb

ABCB9 p.Val121Met

Predicted by SNAP2:	A: N (66%), C: N (66%), D: D (80%), E: D (75%), F: D (80%), G: D (59%), H: D (71%), I: N (53%), K: D (80%), L: D (71%), M: D (66%), N: D (71%), P: D (75%), Q: D (75%), R: D (80%), S: N (61%), T: D (59%), W: D (85%), Y: D (71%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: N, G: N, H: D, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, 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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Sentences [show]
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. Login to comment
51 Of these, 5 were novel (Cys651Arg in TAP2, Val135Ile in ABCB8, Val121Met in ABCB9, Ala150Ser in ABCB10, and Val444Ala in ABCB11). Login to comment
66 However, we detected four novel nonsynonymous polymorphisms (Val135Ile in ABCB8, Val121Met in ABCB9, Ala150Ser in ABCB10, and Val444Ala in ABCB11). Login to comment
38 All SNPs detected by the Table 1H. Summary of genetic variations detected in the ABCB10 gene No. Location Position Genetic variation NCBI SNP ID 1 5Ј Flanking -424 C/T 2 Exon 1 491 G/T(Ala150Ser) 3 Intron 1 37 T/G 4 Intron 1 217 C/T 5 Intron 1 405 T/del 6 Exon 3 185 C/T(Ser301Ser) 7 Intron 6 1269 C/G 8 Intron 7 393 G/A rs446924 9 Intron 9 632 G/A 10 Intron 10 2373 G/C 11 Intron 11 108 T/G 12 Intron 11 2379 T/A 13 Exon 13 1460 C/A(3ЈUTR) rs1053512 14 Exon 13 1571 A/G(3ЈUTR) rs1053513 ABCB10, ATP-binding cassette, subfamily B, member 10 Table 1G. Summary of SNPs detected in the ABCB9 gene No. Location Position SNP NCBI SNP ID 1 Intron 1 69 G/C 2 Intron 1 8873 T/C 3 Intron 1 8940 G/A 4 Intron 1 11410 T/C 5 Intron 1 12863 G/A 6 Intron 1 19731 G/A 7 Intron 1 29649 T/C 8 Intron 1 31793 C/T 9 Intron 1 37537 C/A 10 Intron 1 38293 G/A 11 Intron 1 44661 A/G 12 Intron 1 49576 C/T 13 Intron 1 55608 C/T rs1790094 14 Intron 1 59085 C/T rs1617156 15 Intron 1 60516 T/G rs1790106 16 Intron 1 64083 G/A rs949143 17 Intron 1 64669 C/A 18 Exon 2 448 G/A(Val121Met) 19 Intron 7 3364 A/G 20 Intron 11 113 G/T 21 Exon 12 370 A/G(3ЈUTR) ABCB9, ATP-binding cassette, subfamily B, member 9 PolyPhred Computer Program (Nickerson et al. 1997) were confirmed by sequencing both strands of each PCR product. Login to comment