ABCMdb

PMID: 17181454

Sakurai A, Kurata A, Onishi Y, Hirano H, Ishikawa T
Prediction of drug-induced intrahepatic cholestasis: in vitro screening and QSAR analysis of drugs inhibiting the human bile salt export pump.
Expert Opin Drug Saf. 2007 Jan;6(1):71-86., [PubMed]

Sentences

No. Mutations Sentence Comment

120 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly ABCB11 p.Val444Ala ABCB11 p.Arg1268Gln ABCB11 p.Gly238Val ABCB11 p.Arg1153Cys ABCB11 p.Gly982Arg ABCB11 p.Cys336Ser ABCB11 p.Glu636Gly ABCB11 p.Ala865Val ABCB11 p.Met677Val ABCB11 p.Ser194Pro ABCB11 p.Arg698His ABCB11 p.Val284Ala ABCB11 p.Gly260Asp ABCB11 p.Asn591Ser ABCB11 p.Arg415Gln ABCB11 p.Glu186Gly ABCB11 p.Arg1090* ABCB11 p.Arg299Lys ABCB11 p.Ile206Val ABCB11 p.Arg432Thr ABCB11 p.Lys930* ABCB11 p.Arg1050Cys ABCB11 p.Arg1128His ABCB11 p.Ala926Pro ABCB11 p.Ser593Arg ABCB11 p.Thr923Pro ABCB11 p.Ile498Thr ABCB11 p.Lys461Glu ABCB11 p.Ser56Leu ABCB11 p.Glu592Gln ABCB11 p.Gln558His ABCB11 p.Leu339Val ABCB11 p.Arg1057* H2N COOH S56L G238V G260D C336S L339V V444A K461E D482G T923P K930X G982R R1090X R1153C Outside Inside R1268Q A1228VE1186K R1128H R1057X R1050C A926P A865V R698H E636G M677V S593R E592Q N591S R575XA570T Q558H I498T R432T R415Q R299K E297G V284A I206V S194P E186G cholestasis Expert Opin. Drug Saf. (2007) 6(1) Table 1. Login to comment 121 ABCB11 p.Glu297Gly ABCB11 p.Val444Ala ABCB11 p.Gly238Val ABCB11 p.Cys336Ser ABCB11 p.Ser194Pro ABCB11 p.Val284Ala ABCB11 p.Gly260Asp ABCB11 p.Arg415Gln ABCB11 p.Glu186Gly ABCB11 p.Arg299Lys ABCB11 p.Ile206Val ABCB11 p.Arg432Thr ABCB11 p.Ser56Leu ABCB11 p.Leu339Val Nonsynonymous polymorphisms and mutations in the ABCB11 gene NCBI No. Exon Nucleotide Amino acid alteration Phenotype Ref. Position Alteration rs11568361 5 167 C→T Ser56Leu - [102] - 5 341 G→C Ser114Arg PFIC2 [47]* - 6 557 A→G Glu186Gly BRIC2 [45,48] - 6 580 T→C Ser194Pro - [44] rs11568358 7 616 A→G Ile206Val - [102] - 7 695 T→del Frame shift at position 232 PFIC2 [47] - 7 713 G→T Gly238Val PFIC2 [47] - 8 779 G→A Gly260Asp - [44] - 8 851 T→C Val284Ala - [44] rs11568372 8 890 A→G Glu297Gly PFIC2/BRIC2 [35,43,45,47,102] rs2287617 8 896 G→A Arg299Lys - [102] - 8 908 G→del Frame shift at position 303 PFIC2 [35] - 9 1007 G→C Cys336Ser PFIC2 [47] - 9 1015 C→G Leu339Val - [46] - 11 1244 G→A Arg415Gln - [39] - 11 1294 G→C Arg432Thr BRIC2 [43] rs2287622 12 1331 T→C Val444Ala ICP/PFIC2? Login to comment 122 ABCB11 p.Asp482Gly ABCB11 p.Ile498Thr ABCB11 p.Lys461Glu [39,41,44,46,48,102] - 12 1381 A→G Lys461Glu PFIC2 [35] - 13 1445 A→G Asp482Gly PFIC2 [35] - 13 1493 T→C Ile498Thr PFIC2?BRIC2? Login to comment 123 ABCB11 p.Asn591Ser ABCB11 p.Ser593Arg ABCB11 p.Glu592Gln ABCB11 p.Gln558His ABCB11 p.Ala570Thr [40] rs1156869 14 1674 G→C Gln558His - [102] - 14 1708 G→A Ala570Thr BRIC2 [45] - 14 1723 C→T Arg575X PFIC2 [35,46,47] rs11568367 15 1772 A→G Asn591Ser ICP [39,102] rs11568370 15 1774 G→C Glu592Gln - [102] - 15 1779 T→A/G Ser593Arg PFIC2? Login to comment 124 ABCB11 p.Glu636Gly ABCB11 p.Met677Val ABCB11 p.Arg698His [47] - 15 1907 A→G Glu636Gly PFIC2 [46] rs11568364 16 2029 A→G Met677Val - [39,41,44,102] - 16 2093 G→A Arg698His - [44] - 16 2098 A→del Frame shift at position 700 PFIC2? Login to comment 125 ABCB11 p.Ala865Val [40] - 21 2594 C→T Ala865Val PFIC2? Login to comment 126 ABCB11 p.Gly982Arg ABCB11 p.Arg1050Cys ABCB11 p.Ala926Pro ABCB11 p.Thr923Pro [46] - 22 2767 A→C Thr923Pro BRIC2 [45] - 22 2776 G→C Ala926Pro BRIC2 [45] - 22 2788 A→T Lys930X PFIC2 [43] - 23 2944 G→A Gly982Arg PFIC2 [47] - 23 3148 C→T Arg1050Cys BRIC2 [45] - 23 3169 C→T Arg1057X PFIC2 [35,47] - 24 3213 G→del Frame shift at position 1071 PFIC2 [47] - 24 3268 C→T Arg1090X PFIC2 [47] *Although Jansen et al. [47] reports the S114R variant, amino acid 114 in the wild type is Trp instead of Ser. BRIC2: Benign recurrent intrahepatic cholestasis type 2; del: Deletion; ICP: Intrahepatic cholestasis of pregnancy; NCBI: National Center for Biotechnology Information; PFIC2: Progressive familial intrahepatic cholestasis type 2. Login to comment 131 ABCB11 p.Arg1268Gln ABCB11 p.Arg1153Cys ABCB11 p.Ala1228Val ABCB11 p.Arg1128His ABCB11 p.Glu1186Lys - 25 3383 G→A Arg1128His BRIC2 [45] - 25 3457 C→T Arg1153Cys PFIC2 [35] rs1521808 26 3556 G→A Glu1186Lys - [102] - 26 3683 C→T Ala1228Val - [44] - 27 3767 - 3768 X→C Frame shift at position 1256 PFIC2 [35] - 27 3803 G→A Arg1268Gln PFIC2 [35] Intron 4 3 A→C - PFIC2 [43] Table 2. Login to comment