66 However, we detected four novel nonsynonymous polymorphisms (Val135Ile in ABCB8, Val121Met in ABCB9, Ala150Ser in ABCB10, and Val444Ala in ABCB11).

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ABCB4 p.Val135Ile 11829140:66:61

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35 Accession numbers of the genomic sequences obtained for this study are as follows: ABCB1 (AC002457.1, AC005068.1) TAP1 (X66401.1) TAP2 (X66401.1) ABCB4 (AC079591.1, AC079303.3, AC005045.2) ABCB7 (AL360179.3, AC002417.1) ABCB8 (AC010973.4) ABCB9 (AC026362.9, AC073857.10) ABCB10 (AL121990.9) ABCB11 (AC008177.3, AC069137.3) Table 1D. Summary of genetic variations detected in the ABCB4 gene No. Location Positiona Genetic variation NCBI SNP ID 1 Exon 3 3 C/T(5ЈUTR) 2 Intron 3 45 T/C 3 Intron 3 498 C/T 4 Intron 3 515 A/G 5 Intron 6 1030 G/C 6 Intron 6 1437 G/A 7 Intron 6 2449 G/A 8 Intron 7 451 A/C 9 Intron 7 530 C/G 10 Intron 7 -1023 A/G rs988448 11 Intron 7 -152 T/C 12 Exon 8 40 C/T(Leu59Leu) 13 Intron 8 130 T/C 14 Intron 8 248 A/G 15 Intron 8 531 A/G 16 Intron 8 4240 T/A 17 Intron 8 4343 C/T 18 Intron 8 4677 G/C 19 Intron 9 113 A/G 20 Intron 9 982 T/A 21 Exon 10 160 C/T(Asn168Asn) rs1202283 22 Intron 10 218 T/C rs1473154 23 Intron 11 241 A/G 24 Intron 11 457 A/G 25 Intron 11 589 T/G rs1473152 26 Intron 11 1337 C/G 27 Exon 12 3 A/T(Ile237Ile) 28 Intron 12 1288 T/C 29 Intron 12 2697 G/T rs1014283 30 Intron 13 206 G/A 31 Intron 13 988 T/C 32 Intron 13 1386 A/G rs1468615 33 Intron 13 1413-1414 T/ins 34 Intron 13 1931 A/G 35 Intron 14 402 A/C rs1149222 36 Intron 18 519 G/A rs31674 37 Intron 20 1819 C/T rs31669 38 Intron 21 16 T/C rs31668 39 Intron 21 72 C/T rs31667 40 Intron 22 767 A/del 41 Intron 23 784 T/C 42 Intron 25 158 T/C 43 Intron 25 1044 C/T rs31662 44 Intron 25 2920 T/A 45 Intron 27 580 A/G rs31659 46 Intron 27 2068 G/A rs31658 47 Intron 29 411 A/C 48 Intron 30 2991 C/T rs31653 49 Intron 31 642 C/T rs1526090 50 3Ј Flanking 458 T/C ABCB4, ATP-binding cassette, subfamily B, member 4 Accession numbers of the mRNA sequences are as follows: ABCB1 (M14758.1) TAP1 (NM_000593.2) TAP2 (XM_039609.1) ABCB4 (NM_000443.2) ABCB7 (AF038950.1) ABCB8 (NM_007188.2) ABCB9 (AF216494.1) ABCB10 (NM_012089.1) ABCB11 (NM_003742.1) Table 1E. Summary of genetic variations detected in the ABCB7 gene No. Location Position Genetic variation NCBI SNP ID 1 Intron 1 220 C/A 2 Intron 1 480 G/A 3 Intron 1 512-513 AT/del 4 Intron 1 1690 G/A 5 Intron 1 5309 G/A 6 Intron 1 -11274 A/G 7 Intron 1 -11085 A/G 8 Intron 1 -10037 T/C 9 Intron 1 -21 G/A 10 Intron 3 135-136 A/ins 11 Intron 3 333 G/A 12 Intron 12 524 C/T 13 Intron 13 1543 G/A 14 Intron 13 2400 C/G 15 Intron 15 2201 G/C ABCB7, ATP-binding cassette, subfamily B, member 7 Table 1F. Summary of genetic variations detected in the ABCB8 gene No. Location Position Genetic variation NCBI SNP ID 1 5Ј Flanking -2272 T/C 2 5Ј Flanking -2070 G/A 3 Intron 1 25 A/C 4 Exon 2 308 G/A(Val135Ile) 5 Intron 2 334 C/G 6 Intron 4 12 C/T 7 Intron 5 547 G/A 8 Exon 7 57 A/T(Arg328Arg) 9 Intron 9 1231 C/T 10 Intron 9 1245 G/A rs1469549 11 Intron 9 2164 C/T 12 Intron 9 2645 C/del 13 Intron 9 2646 G/A 14 Intron 9 3229 G/A 15 Intron 12 113-114 GG/ins 16 Intron 13 128 C/T 17 Intron 13 305 A/G 18 Intron 14 135 C/G 19 Intron 14 159 A/T 20 Intron 15 747 A/G 21 3Ј Flanking 48 C/A rs891506 22 3Ј Flanking 333 G/A 23 3Ј Flanking 1168 G/A 24 3Ј Flanking 1719-1721 GTC/del ABCB8, ATP-binding cassette, subfamily B, member 8 Amplification of samples and detection of polymorphisms Total genomic DNAs were isolated from peripheral leukocytes of 48 unrelated Japanese individuals by the standard phenol/chloroform extraction method.

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ABCB4 p.Val135Ile 11829140:35:2664

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135 Among the 8 exonic SNPs found, six result in non-synonymous transitions: 148C>T (p.R50W), c.403G>A (p.V135I), c.910C>T (p.R304C), c.1624G>A (p.V542I), c.1679C>G (p.S560C) and c.2129G>A (p.G710V).

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ABCB4 p.Val135Ile 20302569:135:102

status: NEW

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