PMID: 12893986

Kroetz DL, Pauli-Magnus C, Hodges LM, Huang CC, Kawamoto M, Johns SJ, Stryke D, Ferrin TE, DeYoung J, Taylor T, Carlson EJ, Herskowitz I, Giacomini KM, Clark AG
Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene.
Pharmacogenetics. 2003 Aug;13(8):481-94., [PubMed]
Sentences
No. Mutations Sentence Comment
103 ABCB1 p.Pro1051Ala
X
ABCB1 p.Pro1051Ala 12893986:103:195
status: NEW
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ABCB1 p.Arg669Cys
X
ABCB1 p.Arg669Cys 12893986:103:173
status: NEW
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ABCB1 p.Thr1256Lys
X
ABCB1 p.Thr1256Lys 12893986:103:235
status: NEW
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ABCB1 p.Leu662Arg
X
ABCB1 p.Leu662Arg 12893986:103:162
status: NEW
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ABCB1 p.Val1251Ile
X
ABCB1 p.Val1251Ile 12893986:103:219
status: NEW
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ABCB1 p.Ile849Met
X
ABCB1 p.Ile849Met 12893986:103:184
status: NEW
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ABCB1 p.Met89Thr
X
ABCB1 p.Met89Thr 12893986:103:152
status: NEW
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ABCB1 p.Trp1108Arg
X
ABCB1 p.Trp1108Arg 12893986:103:207
status: NEW
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A total of 30 segregating sites have not been previously described, including eight non-synonymous changes coding for the following amino acid changes: Met89Thr, Leu662Arg, Arg669Cys, Ile849Met, Pro1051Ala, Trp1108Arg, Val1251Ile, and Thr1256Lys. Login to comment
111 ABCB1 p.Ser1141Thr
X
ABCB1 p.Ser1141Thr 12893986:111:89
status: NEW
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ABCB1 p.Pro1051Ala
X
ABCB1 p.Pro1051Ala 12893986:111:77
status: NEW
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ABCB1 p.Thr1256Lys
X
ABCB1 p.Thr1256Lys 12893986:111:105
status: NEW
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ABCB1 p.Leu662Arg
X
ABCB1 p.Leu662Arg 12893986:111:66
status: NEW
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ABCB1 p.Ile261Val
X
ABCB1 p.Ile261Val 12893986:111:55
status: NEW
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These ten variants included five non-synonymous sites (Ile261Val, Leu662Arg, Pro1051Ala, Ser1141Thr, and Thr1256Lys). Login to comment
113 ABCB1 p.Arg669Cys
X
ABCB1 p.Arg669Cys 12893986:113:135
status: NEW
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ABCB1 p.Val1251Ile
X
ABCB1 p.Val1251Ile 12893986:113:173
status: NEW
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ABCB1 p.Ile849Met
X
ABCB1 p.Ile849Met 12893986:113:146
status: NEW
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ABCB1 p.Trp1108Arg
X
ABCB1 p.Trp1108Arg 12893986:113:157
status: NEW
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An additional five coding variants occurred at sites that were conserved in six of the seven species, including those resulting in the Arg669Cys, Ile849Met, Trp1108Arg, and Val1251Ile changes. Login to comment
141 ABCB1 p.Ser400Asn
X
ABCB1 p.Ser400Asn 12893986:141:1535
status: NEW
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ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 12893986:141:1066
status: NEW
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ABCB1 p.Pro1051Ala
X
ABCB1 p.Pro1051Ala 12893986:141:2737
status: NEW
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ABCB1 p.Arg669Cys
X
ABCB1 p.Arg669Cys 12893986:141:2156
status: NEW
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ABCB1 p.Thr1256Lys
X
ABCB1 p.Thr1256Lys 12893986:141:3020
status: NEW
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ABCB1 p.Leu662Arg
X
ABCB1 p.Leu662Arg 12893986:141:2098
status: NEW
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ABCB1 p.Val1251Ile
X
ABCB1 p.Val1251Ile 12893986:141:2967
status: NEW
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ABCB1 p.Ile849Met
X
ABCB1 p.Ile849Met 12893986:141:2448
status: NEW
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ABCB1 p.Met89Thr
X
ABCB1 p.Met89Thr 12893986:141:1185
status: NEW
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ABCB1 p.Trp1108Arg
X
ABCB1 p.Trp1108Arg 12893986:141:2796
status: NEW
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ABCB1 p.Ile261Val
X
ABCB1 p.Ile261Val 12893986:141:1350
status: NEW
view ABCB1 p.Ile261Val details
Unauthorized reproduction of this article is prohibited. Table 1 Genetic variation in ABCB1 Allele frequencyd Variant cDNA NT DNA/AA AA Total CA AA AS ME PA No.a positionb changec position change (n ¼ 494) (n ¼ 200) (n ¼ 200) (n ¼ 60) (n ¼ 20) (n ¼ 14) 1.1Ã (À274) G to A Intron À1 0.006 0 0.016 0 0 0 1.2Ã (À223) C to T Intron À1 0.002 0.005 0 0 0 0 1.3Ã (À146) T to C Intron À1 0.002 0 0.005 0 0 0 1.4Ã (À60) A to T Intron À1 0.004 0 0.010 0 0 0 1.5 (À41) A to G Intron À1 0.002 0 0 0.017 0 0 1.6Ã À241 G to A Non-coding 0.002 0 0 0.017 0 0 1.7 À145 C to G Non-coding 0.002 0 0 0.017 0 0 1.8 À129 T to C Non-coding 0.060 0.051 0.071 0.036 0.100 0.071 1.9 À43 A to G Non-coding 0.012 0 0.020 0.036 0 0 1.10Ã (+140) C to A Intron 1 0.013 0.005 0.021 0 0 0.071 1.11Ã (+237) G to A Intron 1 0.004 0 0.010 0 0 0 2.1 À4 C to T Non-coding 0.004 0 0.010 0 0 0 2.2 À1 G to A Non-coding 0.036 0.080 0.005 0 0.050 0 2.3 61 A to G 21 Asn to Asp 0.045 0.080 0.025 0.017 0 0 4.1Ã (À8) C to G Intron 3 0.002 0.005 0 0 0 0 4.2Ã 266 T to C 89 Met to Thr 0.002 0.005 0 0 0 0 5.1 (À25) G to T Intron 4 0.210 0.158 0.300 0.067 0.200 0.286 8.1 729 A to G 243 Syn 0.002 0.005 0 0 0 0 8.2Ã 781 A to G 261 Ile to Val 0.006 0 0.015 0 0 0 10.1Ã (À44) A to G Intron 9 0.400 0.450 0.255 0.685 0.450 0.571 11.1Ã (À41) T to G Intron 10 0.002 0 0 0.017 0 0 11.2 1199 G to A 400 Ser to Asn 0.014 0.025 0.010 0 0 0 12.1Ã (À4) G to A Intron 11 0.002 0 0.005 0 0 0 12.2 1236 C to T 412 Syn 0.385 0.459 0.209 0.685 0.450 0.571 12.3Ã 1308 A to G 436 Syn 0.002 0 0.005 0 0 0 12.4Ã (+17) G to A Intron 12 0.008 0 0.020 0 0 0 12.5 (+44) C to T Intron 12 0.088 0.046 0.168 0 0 0 13.1 (+24) C to T Intron 13 0.530 0.521 0.542 0.540 0.450 0.571 14.1 1617 C to T 539 Syn 0.002 0.005 0 0 0 0 14.2 (+38) A to G Intron 14 0.540 0.505 0.540 0.683 0.450 0.500 15.1 (+38) G to A Intron 15 0.004 0.005 0.005 0 0 0 16.1Ã 1985 T to G 662 Leu to Arg 0.002 0.005 0 0 0 0 16.2Ã 2005 C to T 669 Arg to Cys 0.004 0 0.010 0 0 0 18.1Ã (À27) A to G Intron 17 0.008 0.010 0.005 0 0.050 0 20.1Ã (+8) C to G Intron 20 0.002 0 0.005 0 0 0 20.2 (+24) G to A Intron 20 0.126 0.121 0.150 0.067 0.200 0 20.3Ã (+40) C to T Intron 20 0.014 0 0.035 0 0 0 21.1Ã 2547 A to G 849 Ile to Met 0.002 0.005 0 0 0 0 21.2 2650 C to T 884 Syn 0.004 0.005 0.005 0 0 0 21.3a 2677 G to T 893 Ala to Ser 0.308 0.464 0.100 0.450 0.400 0.357 21.3b 2677 G to A 893 Ala to Thr 0.035 0.036 0.005 0.067 0 0.357 22.1 (+31) G to A Intron 22 0.002 0 0.005 0 0 0 25.1Ã 3151 C to G 1051 Pro to Ala 0.002 0 0.005 0 0 0 26.1Ã 3322 T to C 1108 Trp to Arg 0.002 0 0.005 0 0 0 26.2 3421 T to A 1141 Ser toThr 0.047 0 0.111 0 0.050 0 26.3 3435 C to T 1145 Syn 0.392 0.561 0.202 0.400 0.500 0.500 28.1 3751 G to A 1251 Val to Ile 0.002 0 0 0 0.050 0 28.2 3767 C to A 1256 Thr to Lys 0.002 0.005 0 0 0 0 28.3 (+21) T to C Intron 28 0.031 0 0.077 0 0 0 a Variants are numbered sequentially by exon. Login to comment
156 ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 12893986:156:91
status: NEW
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Only two haplotypes (ABCB1Ã14 and ABCB1Ã14A) contain two non-synonymous changes (Asn21Asp and Ala893Ser). Login to comment
164 ABCB1 p.Ser400Asn
X
ABCB1 p.Ser400Asn 12893986:164:74
status: NEW
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ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 12893986:164:86
status: NEW
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ABCB1 p.Thr1256Lys
X
ABCB1 p.Thr1256Lys 12893986:164:18
status: NEW
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ABCB1 p.Leu662Arg
X
ABCB1 p.Leu662Arg 12893986:164:58
status: NEW
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ABCB1 p.Val1251Ile
X
ABCB1 p.Val1251Ile 12893986:164:11
status: NEW
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ABCB1 p.Ile849Met
X
ABCB1 p.Ile849Met 12893986:164:5
status: NEW
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ABCB1 p.Met89Thr
X
ABCB1 p.Met89Thr 12893986:164:0
status: NEW
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ABCB1 p.Ile261Val
X
ABCB1 p.Ile261Val 12893986:164:80
status: NEW
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M89T I849M V1251I T1256K S1141TW1108R P1052AR669C A893S/T L662R Cytoplasm S400N I261V N21D Extracellular Fig. 1. Login to comment
301 ABCB1 p.Ser400Asn
X
ABCB1 p.Ser400Asn 12893986:301:52
status: NEW
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ABCB1 p.Asn21Asp
X
ABCB1 p.Asn21Asp 12893986:301:31
status: NEW
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ABCB1 p.Phe103Leu
X
ABCB1 p.Phe103Leu 12893986:301:41
status: NEW
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Other non-synonymous variants (Asn21Asp, Phe103Leu, Ser400Asn, and Ala998Thr) have also been shown not to affect P-glycoprotein function [43]. Login to comment