Mutations in ABCB11

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0 p.Gly   19 Arg details homologous mutations 2 6 9 N N ?
CL0 p.Val   43 Ile details homologous mutations 2 5 5 N N
CL0 p.Leu   50 Ser details homologous mutations 3 5 5 D D ?
CL0 p.Ser   56 Leu details homologous mutations 3 4 4 N N ?
TMD1,TH1 p.Met   62 Lys details homologous mutations 2 3 3 D D ?
TMD1,TH1 p.Cys   68 Tyr details homologous mutations 2 2 2 N D ?
TMD1,TH1 p.Leu   71 His details homologous mutations 1 2 2 N D ?
TMD1,EL1 p.Thr   87 Arg details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Glu   96 * details homologous mutations 1 1 1 - - ?
TMD1,EL1 p.Cys  107 Arg details homologous mutations 4 5 5 D D ?
TMD1,EL1 p.Ile  112 Thr details homologous mutations 2 3 3 N N ?
TMD1,EL1 p.Ile  112 Val details homologous mutations 1 2 2 N N ?
TMD1,EL1 p.Trp  114 Arg details homologous mutations 2 3 3 D D ?
TMD1,EL1 p.Gln  121 Lys details homologous mutations 2 5 5 N N ?
TMD1,EL1 p.Met  123 Thr details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Arg  128 His details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Glu  135 Lys details homologous mutations 4 12 14 N D ?
TMD1,EL1 p.Glu  137 Lys details homologous mutations 2 2 3 N N ?
TMD1,TH2 p.Tyr  157 Cys details homologous mutations 2 2 2 D D ?
TMD1,TH2 p.Ala  167 Val details homologous mutations 2 4 4 D D ?
TMD1,TH2 p.Ala  167 Thr details homologous mutations 4 11 11 D D ?
TMD1,CL1 p.Arg  181 Ile details homologous mutations 1 2 2 D N ?
TMD1,CL1 p.Ile  182 Lys details homologous mutations 2 3 3 D D ?
TMD1,CL1 p.Met  183 Val details homologous mutations 6 15 16 N N ?
TMD1,CL1 p.Met  183 Thr details homologous mutations 2 3 3 D D ?
TMD1,CL1 p.Glu  186 Gly details homologous mutations 9 21 21 D D ?
TMD1,CL1 p.Gly  188 Trp details homologous mutations 3 4 4 D D ?
TMD1,CL1 p.Ser  194 Pro details homologous mutations 5 7 7 N N ?
TMD1,CL1 p.Leu  198 Pro details homologous mutations 2 3 5 D D ?
TMD1,CL1 p.Ile  206 Val details homologous mutations 6 10 10 N N ?
TMD1,CL1 p.Ala  212 Thr details homologous mutations 1 2 2 D N ?
TMD1,CL1 p.Met  217 Arg details homologous mutations 1 1 1 D D ?
TMD1,CL1 p.Arg  223 Cys details homologous mutations 2 6 7 N N ?
TMD1,TH3 p.Ser  226 Leu details homologous mutations 4 11 15 D N ?
TMD1,TH3 p.Leu  233 Ser details homologous mutations 1 1 2 N D ?
TMD1,TH3 p.Gly  238 Val details homologous mutations 16 57 62 D D ?
TMD1,TH3 p.Thr  242 Ile details homologous mutations 3 3 3 D D ?
TMD1,TH4 p.Ala  257 Gly details homologous mutations 1 2 2 N N ?
TMD1,TH4 p.Ala  257 Val details homologous mutations 1 1 1 D D ?
TMD1,TH4 p.Gly  260 Asp details homologous mutations 5 7 7 D N ?
TMD1,CL2 p.Ala  277 Glu details homologous mutations 1 4 4 D D ?
TMD1,CL2 p.Glu  283 Asp details homologous mutations 1 2 2 D D ?
TMD1,CL2 p.Val  284 Ala details homologous mutations 9 17 19 N N ?
TMD1,CL2 p.Val  284 Leu details homologous mutations 9 27 30 D N ?
TMD1,CL2 p.Val  284 Asp details homologous mutations 1 12 12 D D ?
TMD1,CL2 p.Val  291 Ala details homologous mutations 1 2 2 N D ?
TMD1,CL2 p.Gly  295 Cys details homologous mutations 1 1 1 N D ?
TMD1,CL2 p.Gly  295 Arg details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Gly  295 Ser details homologous mutations 1 1 1 N D ?
TMD1,CL2 p.Glu  297 Gly details homologous mutations 69 473 556 D D D
TMD1,CL2 p.Glu  297 Lys details homologous mutations 3 16 17 D N ?
TMD1,CL2 p.Arg  299 Lys details homologous mutations 4 9 9 N N ?
TMD1,CL2 p.Arg  303 Lys details homologous mutations 7 19 21 N N ?
TMD1,CL2 p.Arg  303 Gly details homologous mutations 3 4 4 D D ?
TMD1,CL2 p.Gln  312 His details homologous mutations 2 2 2 N N ?
TMD1,CL2 p.Arg  313 Ser details homologous mutations 3 3 3 N N ?
TMD1,TH5 p.Gly  327 Glu details homologous mutations 3 3 3 D D ?
TMD1,TH5 p.Trp  330 * details homologous mutations 2 2 2 - - ?
TMD1,TH5 p.Trp  330 Arg details homologous mutations 1 1 1 D D ?
TMD1,TH5 p.Cys  336 Ser details homologous mutations 11 13 13 N N ?
TMD1,TH5 p.Tyr  337 His details homologous mutations 1 10 11 D D ?
TMD1,TH5 p.Leu  339 Val details homologous mutations 2 3 3 N N ?
TMD1,EL3 p.Trp  342 Gly details homologous mutations 1 1 1 D D ?
TMD1,EL3 p.Tyr  354 * details homologous mutations 2 5 16 - - ?
TMD1,TH6 p.Gly  374 Ser details homologous mutations 3 11 11 D D ?
CL3 p.Ala  382 Gly details homologous mutations 1 1 1 N N ?
CL3 p.Arg  387 His details homologous mutations 2 5 5 D D ?
CL3 p.Ala  389 Pro details homologous mutations 1 2 2 D D ?
CL3 p.Ala  390 Pro details homologous mutations 3 3 4 D D ?
CL3 p.Gly  410 Asp details homologous mutations 3 3 3 N D ?
CL3 p.Leu  413 Trp details homologous mutations 2 2 2 D N ?
CL3 p.Arg  415 Gln details homologous mutations 4 6 6 N N ?
CL3 p.Arg  415 * details homologous mutations 4 6 8 - - ?
CL3,NBD1 p.Ile  420 Thr details homologous mutations 2 5 5 D D ?
CL3,NBD1 p.His  423 Arg details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Arg  432 Thr details homologous mutations 13 35 35 N D D
CL3,NBD1 p.Asp  440 Glu details homologous mutations 1 1 1 D N ?
CL3,NBD1 p.Val  444 Ala details homologous mutations 56 261 298 N N N
CL3,NBD1 p.Val  444 Gly details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Val  444 Asp details homologous mutations 1 1 1 N N ?
CL3,NBD1,WA1 p.Gly  455 Glu details homologous mutations 2 3 3 D D ?
CL3,NBD1,WA1 p.Ala  459 Val details homologous mutations 1 1 1 D N ?
CL3,NBD1,WA1 p.Lys  461 Glu details homologous mutations 8 18 18 D D ?
CL3,NBD1 p.Thr  463 Ile details homologous mutations 4 6 6 D D ?
CL3,NBD1 p.Gln  466 Lys details homologous mutations 3 6 6 D D ?
CL3,NBD1 p.Arg  470 Gln details homologous mutations 3 4 4 D D ?
CL3,NBD1 p.Arg  470 * details homologous mutations 2 3 3 - - ?
CL3,NBD1 p.Tyr  472 * details homologous mutations 3 4 5 - - ?
CL3,NBD1 p.Tyr  472 Cys details homologous mutations 3 12 12 D D ?
CL3,NBD1 p.Val  481 Glu details homologous mutations 4 5 5 D D ?
CL3,NBD1 p.Val  481 Gln details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Asp  482 Gly details homologous mutations 66 586 666 D D ?
CL3,NBD1 p.Arg  487 His details homologous mutations 6 17 18 D D ?
CL3,NBD1 p.Arg  487 Pro details homologous mutations 5 5 5 D D ?
CL3,NBD1 p.Arg  487 Leu details homologous mutations 2 6 7 D D ?
CL3,NBD1 p.Asn  490 Asp details homologous mutations 4 17 19 N D ?
CL3,NBD1 p.Trp  493 * details homologous mutations 3 5 5 - - ?
CL3,NBD1 p.Ile  498 Thr details homologous mutations 7 19 23 D D ?
CL3,NBD1 p.Gly  499 Glu details homologous mutations 3 8 8 D D ?
CL3,NBD1 p.Ile  512 Thr details homologous mutations 3 3 3 D D ?
CL3,NBD1 p.Asn  515 Thr details homologous mutations 4 6 6 D D ?
CL3,NBD1 p.Arg  517 His details homologous mutations 4 5 5 N D ?
CL3,NBD1 p.Arg  520 * details homologous mutations 2 2 2 - - ?
CL3,NBD1 p.Ile  528 * details homologous mutations 2 3 3 - - ?
CL3,NBD1 p.Ile  528 Thr details homologous mutations 1 2 3 D D ?
CL3,NBD1 p.Phe  540 Leu details homologous mutations 2 5 5 D D ?
CL3,NBD1 p.Ile  541 Leu details homologous mutations 4 10 10 D N ?
CL3,NBD1 p.Ile  541 Thr details homologous mutations 3 4 5 D D ?
CL3,NBD1 p.Gln  546 Lys details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Gln  546 His details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Phe  548 Tyr details homologous mutations 4 5 5 N N ?
CL3,NBD1 p.Asp  549 Val details homologous mutations 2 3 3 D D ?
CL3,NBD1 p.Gly  556 Arg details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Gln  558 His details homologous mutations 6 18 18 N D ?
CL3,NBD1,SIG1 p.Gly  562 Asp details homologous mutations 5 6 6 D D ?
CL3,NBD1,SIG1 p.Ala  570 Thr details homologous mutations 12 58 63 D D ?
CL3,NBD1 p.Arg  575 * details homologous mutations 8 13 14 - - D
CL3,NBD1 p.Asn  576 Ser details homologous mutations 1 2 2 N D ?
CL3,NBD1,WB1 p.Leu  581 Phe details homologous mutations 3 4 4 N D ?
CL3,NBD1 p.Thr  586 Ile details homologous mutations 3 6 6 D D ?
CL3,NBD1 p.Ser  587 * details homologous mutations 1 1 1 - - ?
CL3,NBD1 p.Ala  588 Val details homologous mutations 4 6 6 D D ?
CL3,NBD1 p.Asn  591 Ser details homologous mutations 16 61 65 D N N
CL3,NBD1 p.Glu  592 Gln details homologous mutations 4 5 5 N N ?
CL3,NBD1 p.Ser  593 Arg details homologous mutations 6 7 7 D D ?
CL3,NBD1 p.Val  597 Met details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg  616 Gly details homologous mutations 3 7 8 D D ?
CL3,NBD1 p.Thr  619 Ala details homologous mutations 3 7 7 D D ?
CL3,NBD1 p.Ile  627 Thr details homologous mutations 2 2 2 N N ?
CL3,NBD1 p.Glu  636 Gly details homologous mutations 5 8 9 D D ?
CL3,NBD1 p.Gly  648 Val details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Thr  655 Ile details homologous mutations 2 3 5 N D ?
CL3 p.Asp  676 Tyr details homologous mutations 5 28 30 N N ?
CL3 p.Met  677 Val details homologous mutations 19 45 46 N N ?
CL3 p.Met  677 Leu details homologous mutations 1 1 1 D N ?
CL3 p.Arg  696 Gln details homologous mutations 1 1 1 N N ?
CL3 p.Arg  696 Trp details homologous mutations 1 9 9 D D ?
CL3 p.Arg  698 His details homologous mutations 10 28 30 D D N
CL3 p.Arg  698 Cys details homologous mutations 1 1 1 D D ?
CL3 p.Ser  699 Pro details homologous mutations 2 3 3 N D ?
CL3 p.Ser  701 Pro details homologous mutations 1 1 1 N N ?
CL3 p.Gln  702 * details homologous mutations 3 4 5 - - ?
CL3 p.Glu  709 Lys details homologous mutations 2 3 3 N N ?
CL3 p.Pro  731 Ser details homologous mutations 1 11 11 N N ?
CL3 p.Gly  758 Arg details homologous mutations 1 1 1 D D ?
TMD2,TH7 p.Gly  766 Arg details homologous mutations 3 3 5 D D ?
TMD2,TH7 p.Tyr  772 * details homologous mutations 2 2 2 - - ?
TMD2,EL4 p.Gln  791 * details homologous mutations 1 1 1 - - ?
TMD2,TH8 p.Tyr  818 Phe details homologous mutations 5 21 26 N N ?
TMD2,CL4 p.Leu  827 Ile details homologous mutations 2 6 6 N N ?
TMD2,CL4 p.Arg  832 Cys details homologous mutations 6 13 14 D D ?
TMD2,CL4 p.Arg  832 His details homologous mutations 1 1 1 D D ?
TMD2,CL4 p.Gly  855 Arg details homologous mutations 5 24 24 D D ?
TMD2,CL4 p.Thr  859 Arg details homologous mutations 4 4 4 D D ?
TMD2,CL4 p.Ala  865 Val details homologous mutations 7 31 32 D D ?
TMD2,CL4 p.Ala  865 Asp details homologous mutations 1 1 1 D D ?
TMD2,CL4 p.Ala  865 Gly details homologous mutations 1 1 1 D D ?
TMD2,CL4 p.Gln  869 Pro details homologous mutations 2 6 7 D D ?
TMD2,CL4 p.Ser  874 Pro details homologous mutations 1 1 1 D D ?
TMD2,TH9 p.Gly  877 Arg details homologous mutations 2 9 12 D D ?
TMD2,EL5 p.Ser  901 Arg details homologous mutations 2 7 8 D D ?
TMD2,TH10 p.Thr  923 Pro details homologous mutations 5 7 7 D D ?
TMD2,TH10 p.Ala  926 Pro details homologous mutations 6 9 9 D D ?
TMD2,CL5 p.Arg  928 * details homologous mutations 5 13 14 - - ?
TMD2,CL5 p.Arg  928 Gln details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Lys  930 * details homologous mutations 3 5 5 - - ?
TMD2,CL5 p.Gln  931 Pro details homologous mutations 1 9 9 D D ?
TMD2,CL5 p.Ile  939 Met details homologous mutations 1 1 1 N D ?
TMD2,CL5 p.Arg  948 Cys details homologous mutations 4 8 9 D D ?
TMD2,CL5 p.Arg  958 Gln details homologous mutations 3 5 5 N N ?
TMD2,CL5 p.Thr  965 Ser details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Asn  979 Asp details homologous mutations 4 4 4 N N ?
TMD2,TH11 p.Gly  982 Arg details homologous mutations 26 96 110 D D ?
TMD2,EL6 p.Gly 1003 Glu details homologous mutations 1 2 2 D D ?
TMD2,EL6 p.Gly 1004 Asp details homologous mutations 6 17 19 D D ?
TMD2,EL6 p.Leu 1006 Phe details homologous mutations 1 1 1 N D ?
TMD2,EL6 p.Asn 1009 His details homologous mutations 1 1 1 N N ?
TMD2,TH12 p.Thr 1029 Lys details homologous mutations 3 3 3 D N ?
TMD2,TH12 p.Gly 1032 Arg details homologous mutations 1 1 1 D D ?
TMD2,TH12 p.Tyr 1041 * details homologous mutations 2 3 3 - - ?
CL6 p.Ala 1044 Pro details homologous mutations 1 1 1 D D ?
CL6 p.Arg 1050 Cys details homologous mutations 12 42 42 D D ?
CL6 p.Leu 1055 Pro details homologous mutations 2 2 2 D D ?
CL6 p.Arg 1057 * details homologous mutations 6 22 22 - - D
CL6 p.Arg 1057 Cys details homologous mutations 1 1 1 N D D
CL6 p.Gln 1058 * details homologous mutations 3 4 4 - - ?
CL6,NBD2 p.Ile 1078 Thr details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Cys 1083 Tyr details homologous mutations 2 7 8 D D ?
CL6,NBD2 p.Arg 1090 * details homologous mutations 8 9 11 - - ?
CL6,NBD2 p.Ala 1110 Glu details homologous mutations 5 9 9 D D ?
CL6,NBD2 p.Val 1112 Phe details homologous mutations 1 3 3 D D ?
CL6,NBD2,WA2 p.Ser 1114 Arg details homologous mutations 1 1 1 D D ?
CL6,NBD2,WA2 p.Gly 1116 Arg details homologous mutations 3 5 6 D D ?
CL6,NBD2,WA2 p.Gly 1116 Phe details homologous mutations 2 3 3 D D ?
CL6,NBD2,WA2 p.Gly 1116 Glu details homologous mutations 2 2 2 D D ?
CL6,NBD2,WA2 p.Ser 1120 Asn details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Arg 1128 His details homologous mutations 6 12 12 D D ?
CL6,NBD2 p.Arg 1128 Cys details homologous mutations 6 22 29 D D ?
CL6,NBD2 p.Asp 1131 Val details homologous mutations 1 9 10 D D ?
CL6,NBD2 p.Ser 1144 Arg details homologous mutations 3 8 8 N N ?
CL6,NBD2 p.Lys 1145 Asn details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Val 1147 * details homologous mutations 1 1 1 - - ?
CL6,NBD2 p.Arg 1153 Cys details homologous mutations 21 51 56 D D ?
CL6,NBD2 p.Arg 1153 His details homologous mutations 5 13 13 D D ?
CL6,NBD2 p.Ser 1154 Pro details homologous mutations 4 9 9 D D ?
CL6,NBD2 p.Asn 1173 Asp details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Ile 1183 Thr details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Glu 1186 Lys details homologous mutations 6 10 11 D D
CL6,NBD2 p.Leu 1197 Gly details homologous mutations 2 2 2 N D ?
CL6,NBD2 p.His 1198 Arg details homologous mutations 2 10 11 D D ?
CL6,NBD2 p.Tyr 1208 Cys details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Thr 1210 Pro details homologous mutations 7 17 20 D D ?
CL6,NBD2 p.Asn 1211 Asp details homologous mutations 2 7 7 N N ?
CL6,NBD2 p.Val 1212 Phe details homologous mutations 2 3 3 D D ?
CL6,NBD2 p.Gln 1215 * details homologous mutations 1 1 1 - - ?
CL6,NBD2,SIG2 p.Glu 1223 Asp details homologous mutations 2 2 2 D N ?
CL6,NBD2,SIG2 p.Arg 1226 His details homologous mutations 1 2 2 D D ?
CL6,NBD2,SIG2 p.Arg 1226 Pro details homologous mutations 1 2 2 D D ?
CL6,NBD2,SIG2 p.Ala 1228 Val details homologous mutations 4 6 6 D D ?
CL6,NBD2,SIG2 p.Arg 1231 Gln details homologous mutations 7 22 24 D D ?
CL6,NBD2,SIG2 p.Arg 1231 Trp details homologous mutations 6 8 8 D D ?
CL6,NBD2 p.Arg 1235 * details homologous mutations 2 5 5 - - ?
CL6,NBD2,WB2 p.Leu 1242 Ile details homologous mutations 3 6 6 D N ?
CL6,NBD2,WB2 p.Asp 1243 Gly details homologous mutations 2 2 2 D D ?
CL6,NBD2 p.Leu 1249 * details homologous mutations 1 1 1 - - ?
CL6,NBD2 p.Arg 1268 Gln details homologous mutations 15 28 29 D D ?
CL6,NBD2 p.Ala 1283 Val details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Gly 1292 Val details homologous mutations 3 7 7 D D ?
CL6,NBD2 p.Gly 1298 Arg details homologous mutations 2 2 2 D D ?
CL6,NBD2 p.Glu 1302 * details homologous mutations 2 2 2 - - ?
CL6,NBD2 p.Tyr 1311 * details homologous mutations 1 1 1 - - ?
CL6,NBD2 p.Tyr 1311 Ala details homologous mutations 1 3 3 D D ?