Mutations in ABCB4

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0 p.Gly   19 Arg details homologous mutations 1 1 1 N N ?
CL0 p.Thr   34 Met details homologous mutations 1 2 2 N N
CL0 p.Arg   47 * details homologous mutations 2 9 11 - - ?
CL0 p.Arg   47 Gln details homologous mutations 3 11 14 N D
CL0 p.Arg   47 Gly details homologous mutations 1 1 1 D D ?
TMD1,TH1 p.Gly   68 Arg details homologous mutations 1 9 12 D D ?
TMD1,TH1 p.Gly   70 Arg details homologous mutations 1 2 4 D D ?
TMD1,TH1 p.Leu   71 Phe details homologous mutations 1 1 1 N N ?
TMD1,TH1 p.Leu   73 Val details homologous mutations 4 14 14 N N ?
TMD1,EL1 p.Glu   80 Ala details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Thr   82 Asn details homologous mutations 1 10 11 D D ?
TMD1,EL1 p.Asp   87 Glu details homologous mutations 1 3 3 N N ?
TMD1,EL1 p.Pro   95 Ser details homologous mutations 1 3 3 N N ?
TMD1,EL1 p.Met  113 Leu details homologous mutations 1 10 10 N N ?
TMD1,EL1 p.Tyr  118 Cys details homologous mutations 1 3 3 N D ?
TMD1,TH2 p.Gly  126 Glu details homologous mutations 2 5 6 D D ?
TMD1,TH2 p.Val  135 Ile details homologous mutations 2 3 3 N N ?
TMD1,TH2 p.Trp  138 Arg details homologous mutations 2 2 3 D D ?
TMD1,CL1 p.Arg  144 * details homologous mutations 2 5 5 - - D
TMD1,CL1 p.Gln  145 His details homologous mutations 3 5 6 D D ?
TMD1,CL1 p.Arg  150 Lys details homologous mutations 2 6 6 D N ?
TMD1,CL1 p.Arg  159 * details homologous mutations 3 7 8 - - ?
TMD1,CL1 p.Ile  162 Lys details homologous mutations 1 2 2 D D ?
TMD1,CL1 p.Phe  165 Ile details homologous mutations 4 19 20 D D ?
TMD1,CL1 p.Thr  175 Ala details homologous mutations 19 82 95 D D D
TMD1,CL1 p.Thr  175 Val details homologous mutations 2 4 4 D D D
TMD1,CL1 p.Gly  187 Glu details homologous mutations 1 3 3 D D ?
TMD1,TH3 p.Thr  201 Met details homologous mutations 1 15 15 N D ?
TMD1,TH3 p.Thr  217 Cys details homologous mutations 1 1 1 D D ?
TMD1,TH4 p.Ser  224 Pro details homologous mutations 1 9 9 D D ?
TMD1,CL2 p.Asp  243 Ala details homologous mutations 1 2 2 N D ?
TMD1,CL2 p.Ala  250 Pro details homologous mutations 2 3 3 D D ?
TMD1,CL2 p.Ala  250 Leu details homologous mutations 1 4 4 D D ?
TMD1,CL2 p.Ala  254 Leu details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Tyr  279 * details homologous mutations 2 4 4 - - ?
TMD1,CL2 p.Ala  286 Val details homologous mutations 2 5 5 N D ?
TMD1,TH5 p.Ile  299 Met details homologous mutations 1 1 1 N N ?
TMD1,TH5 p.Ile  299 Cys details homologous mutations 1 1 1 N D ?
TMD1,TH5 p.Met  301 Thr details homologous mutations 3 10 11 N D ?
TMD1,TH5 p.Gly  302 Ala details homologous mutations 1 1 2 D D ?
TMD1,EL3 p.Gly  319 Glu details homologous mutations 1 1 3 D D ?
TMD1,EL3 p.Ser  320 Phe details homologous mutations 22 78 92 D D
TMD1,EL3 p.Tyr  328 * details homologous mutations 1 3 3 - - ?
TMD1,TH6 p.Ser  346 Ile details homologous mutations 3 5 6 D D ?
TMD1,TH6 p.Pro  352 Leu details homologous mutations 1 1 1 D D ?
TMD1,TH6 p.Phe  357 Leu details homologous mutations 2 5 5 D D ?
CL3 p.Ala  364 Val details homologous mutations 2 5 5 D D ?
CL3 p.Ala  364 Thr details homologous mutations 1 1 1 N D ?
CL3 p.Ile  367 Val details homologous mutations 2 5 5 N N ?
CL3 p.Gly  392 Glu details homologous mutations 1 2 3 D D ?
CL3 p.Gly  392 Lys details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Glu  395 Gly details homologous mutations 2 2 3 D D ?
CL3,NBD1 p.Tyr  403 His details homologous mutations 4 24 27 D D D
CL3,NBD1 p.Thr  424 Ala details homologous mutations 3 3 4 D D ?
CL3,NBD1 p.Val  425 Met details homologous mutations 3 3 4 N N ?
CL3,NBD1,WA1 p.Ser  430 Ala details homologous mutations 4 29 29 N N ?
CL3,NBD1,WA1 p.Ser  430 Thr details homologous mutations 1 21 21 N N ?
CL3,NBD1,WA1 p.Gly  432 Cys details homologous mutations 1 1 1 D D ?
CL3,NBD1,WA1 p.Gly  432 Leu details homologous mutations 1 1 1 D D ?
CL3,NBD1,WA1 p.Lys  435 Met details homologous mutations 3 25 28 D D ?
CL3,NBD1,WA1 p.Lys  435 Thr details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Arg  444 Glu details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Glu  450 Gly details homologous mutations 1 3 3 D D ?
CL3,NBD1 p.Asp  459 Gly details homologous mutations 1 7 7 D D ?
CL3,NBD1 p.Asp  459 His details homologous mutations 1 9 9 D D ?
CL3,NBD1 p.Tyr  467 Phe details homologous mutations 1 6 6 N N ?
CL3,NBD1 p.Val  475 Ala details homologous mutations 2 5 5 D D ?
CL3,NBD1 p.Pro  479 Leu details homologous mutations 1 11 11 D D ?
CL3,NBD1 p.Leu  481 Arg details homologous mutations 3 15 16 D D ?
CL3,NBD1 p.Ile  490 Thr details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Gly  495 Ala details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Asn  510 Ser details homologous mutations 4 23 24 D D ?
CL3,NBD1 p.Ala  511 Thr details homologous mutations 3 10 11 N D ?
CL3,NBD1 p.Leu  518 Tyr details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Val  526 Phe details homologous mutations 1 4 4 D D ?
CL3,NBD1 p.Glu  528 Asp details homologous mutations 8 27 28 D N N
CL3,NBD1,SIG1 p.Gly  535 Asp details homologous mutations 4 5 5 D D ?
CL3,NBD1,SIG1 p.Gly  536 Ala details homologous mutations 1 1 1 D D ?
CL3,NBD1,SIG1 p.Gly  536 Arg details homologous mutations 2 11 11 D D ?
CL3,NBD1,SIG1 p.Gln  537 Arg details homologous mutations 1 1 1 D D ?
CL3,NBD1,SIG1 p.Ile  541 Phe details homologous mutations 9 81 89 D D ?
CL3,NBD1,SIG1 p.Ile  541 Arg details homologous mutations 1 1 1 D D ?
CL3,NBD1,SIG1 p.Ile  541 Thr details homologous mutations 1 1 1 D D ?
CL3,NBD1,SIG1 p.Ala  544 Asp details homologous mutations 1 13 14 D D ?
CL3,NBD1,SIG1 p.Arg  545 Gly details homologous mutations 1 4 4 D D D
CL3,NBD1,SIG1 p.Arg  545 Cys details homologous mutations 2 6 7 D D D
CL3,NBD1,SIG1 p.Ala  546 Asp details homologous mutations 7 17 18 D D D
CL3,NBD1 p.Arg  549 His details homologous mutations 2 7 7 D D ?
CL3,NBD1,WB1 p.Leu  556 Arg details homologous mutations 2 2 3 D D ?
CL3,NBD1 p.Glu  558 Gln details homologous mutations 3 21 23 D D ?
CL3,NBD1 p.Glu  558 Lys details homologous mutations 2 6 7 D D ?
CL3,NBD1 p.Asp  564 Gly details homologous mutations 2 2 3 D D ?
CL3,NBD1 p.Gly  581 Ala details homologous mutations 1 1 5 D D ?
CL3,NBD1 p.Arg  582 Gln details homologous mutations 1 7 7 D D ?
CL3,NBD1 p.Ile  585 Val details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Ala  588 Val details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg  590 Gln details homologous mutations 16 68 85 D D
CL3,NBD1 p.Leu  591 Gln details homologous mutations 2 2 3 D D ?
CL3,NBD1 p.Thr  593 Ala details homologous mutations 2 4 4 D D ?
CL3,NBD1 p.Arg  595 * details homologous mutations 1 5 6 - - ?
CL3,NBD1 p.Val  599 Ile details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Gly  602 Ala details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Glu  604 Gln details homologous mutations 2 20 20 N N ?
CL3,NBD1 p.Glu  616 Lys details homologous mutations 1 5 5 D D ?
CL3,NBD1 p.Gly  622 Glu details homologous mutations 2 5 5 D D ?
CL3,NBD1 p.Lys  626 * details homologous mutations 1 1 1 - - ?
CL3,NBD1 p.Met  630 Val details homologous mutations 2 5 5 N N ?
CL3 p.Gly  634 Glu details homologous mutations 1 5 5 N N ?
CL3 p.Gln  636 * details homologous mutations 2 2 3 - - ?
CL3 p.Arg  652 Gly details homologous mutations 24 120 133 D N ?
CL3 p.Trp  658 * details homologous mutations 1 1 2 - - ?
CL3 p.Thr  667 Ile details homologous mutations 1 6 6 N N ?
CL3 p.Lys  669 Arg details homologous mutations 1 1 1 N N ?
CL3 p.Leu  701 Pro details homologous mutations 2 7 7 D D ?
CL3 p.Phe  711 Ser details homologous mutations 2 2 3 N D ?
CL3 p.Thr  715 Ile details homologous mutations 2 5 5 N N ?
TMD2,TH7 p.Gly  723 Glu details homologous mutations 2 2 3 D D ?
TMD2,TH7 p.Gln  725 Arg details homologous mutations 1 2 2 D N ?
TMD2,TH7 p.Pro  726 Thr details homologous mutations 2 3 3 N D ?
TMD2,TH7 p.Phe  728 Cys details homologous mutations 2 8 8 N D ?
TMD2,TH7 p.Phe  728 Arg details homologous mutations 1 3 3 D D ?
TMD2,TH7 p.Phe  732 Arg details homologous mutations 1 3 3 D D ?
TMD2,TH7 p.Ala  737 Val details homologous mutations 2 5 5 N N ?
TMD2,TH7 p.Ile  738 Leu details homologous mutations 1 8 8 N N ?
TMD2,EL4 p.Pro  741 Leu details homologous mutations 1 2 2 N N ?
TMD2,EL4 p.Gly  742 Ser details homologous mutations 1 1 1 N N ?
TMD2,TH8 p.Gly  762 * details homologous mutations 2 4 4 - - ?
TMD2,TH8 p.Gly  762 Glu details homologous mutations 3 8 8 D D ?
TMD2,TH8 p.Ile  764 Leu details homologous mutations 3 9 9 N N ?
TMD2,TH8 p.Phe  770 Cys details homologous mutations 1 2 2 N D ?
TMD2,TH8 p.Gly  773 Val details homologous mutations 1 4 4 D D ?
TMD2,TH8 p.Thr  775 Met details homologous mutations 5 14 15 N N ?
TMD2,CL4 p.Arg  788 Trp details homologous mutations 1 4 5 D D ?
TMD2,CL4 p.Arg  788 Glu details homologous mutations 2 2 3 D D ?
TMD2,CL4 p.Asp  805 Cys details homologous mutations 2 7 8 N D ?
TMD2,CL4 p.Asp  805 Tyr details homologous mutations 1 1 1 D D ?
TMD2,CL4 p.Gly  811 Arg details homologous mutations 1 6 6 D D ?
TMD2,TH9 p.Ala  840 Asp details homologous mutations 2 4 4 D D ?
TMD2,TH10 p.Leu  859 Trp details homologous mutations 1 4 4 N D ?
TMD2,CL5 p.Glu  888 * details homologous mutations 2 4 4 - - ?
TMD2,CL5 p.Ser  908 Ala details homologous mutations 1 1 1 N D ?
TMD2,TH11 p.Ala  934 Thr details homologous mutations 5 10 11 D D ?
TMD2,TH11 p.Ile  936 Ala details homologous mutations 3 12 13 N D ?
TMD2,TH11 p.Phe  941 Ser details homologous mutations 1 1 1 D D ?
TMD2,TH11 p.Gln  945 * details homologous mutations 1 2 2 - - ?
TMD2,TH11 p.Ala  946 Thr details homologous mutations 1 2 2 N D ?
TMD2,TH11 p.Phe  947 Ala details homologous mutations 1 4 4 N N ?
TMD2,TH11 p.Met  948 Ile details homologous mutations 1 4 4 N N ?
TMD2,TH11 p.Tyr  949 Ala details homologous mutations 5 14 15 D D ?
TMD2,TH11 p.Tyr  949 Phe details homologous mutations 1 1 1 N N ?
TMD2,TH11 p.Tyr  949 Gln details homologous mutations 1 1 1 D D ?
TMD2,TH11 p.Ala  953 Asp details homologous mutations 3 9 9 D D ?
TMD2,TH11 p.Gly  954 Ser details homologous mutations 2 6 7 N N ?
TMD2,EL6 p.Arg  957 * details homologous mutations 6 6 7 - - D
TMD2,TH12 p.Leu  975 Cys details homologous mutations 3 26 28 N D ?
TMD2,TH12 p.Ser  978 Pro details homologous mutations 1 16 16 D D ?
TMD2,TH12 p.Gly  983 Ser details homologous mutations 2 2 3 N D ?
CL6 p.Gly 1024 Ala details homologous mutations 1 1 6 N D ?
CL6,NBD2 p.Asn 1042 Asp details homologous mutations 4 8 10 N D ?
CL6,NBD2 p.Arg 1046 * details homologous mutations 1 6 6 - - ?
CL6,NBD2 p.Val 1068 Glu details homologous mutations 1 2 2 D D ?
CL6,NBD2,WA2 p.Ser 1071 Cys details homologous mutations 1 1 1 D D ?
CL6,NBD2,WA2 p.Cys 1073 Tyr details homologous mutations 1 2 2 D D ?
CL6,NBD2,WA2 p.Lys 1075 Met details homologous mutations 1 11 12 D D ?
CL6,NBD2 p.Val 1079 Cys details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Leu 1082 Gln details homologous mutations 2 6 6 D D ?
CL6,NBD2 p.Leu 1082 Cys details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Gln 1118 Ala details homologous mutations 2 5 6 D D ?
CL6,NBD2 p.Gln 1118 Asn details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Glu 1125 Gln details homologous mutations 1 5 5 D D ?
CL6,NBD2 p.Ile 1137 Ser details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Pro 1162 Thr details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Tyr 1171 Cys details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Gly 1179 Cys details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Gly 1179 Asp details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Gln 1181 Glu details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Gln 1181 * details homologous mutations 1 2 2 - - ?
CL6,NBD2,SIG2 p.Ala 1193 Thr details homologous mutations 2 4 5 D D ?
CL6,NBD2 p.Glu 1207 Gln details homologous mutations 2 13 15 D D ?
CL6 p.Gln 1280 Thr details homologous mutations 1 1 1 D D ?