Mutations in ABCC2

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
ELa p.Pro   19 Leu details homologous mutations 5 7 7 N D ?
ELa p.Leu   23 Ser details homologous mutations 1 8 8 D D ?
ELa p.Leu   23 Arg details homologous mutations 4 36 36 D D ?
ELa p.Leu   23 Pro details homologous mutations 1 1 1 D D ?
ELa p.Glu   28 Arg details homologous mutations 1 1 1 D N ?
ELa p.Glu   28 Phe details homologous mutations 1 1 1 D D ?
TMD0,THa p.Tyr   39 Phe details homologous mutations 1 1 1 N N ?
TMD0,THb p.Ala   80 Gly details homologous mutations 1 2 2 N N ?
TMD0,THc p.Arg  100 * details homologous mutations 5 6 8 - - ?
TMD0,THc p.Arg  100 Gln details homologous mutations 5 6 6 N N ?
TMD0,CLb p.Arg  121 * details homologous mutations 1 1 1 - - ?
TMD0,CLb p.Gln  122 Arg details homologous mutations 1 1 1 N N ?
CL0 p.Ser  185 Thr details homologous mutations 2 2 2 N N ?
CL0,L0 p.Trp  208 Arg details homologous mutations 1 1 1 D D ?
CL0,L0 p.Trp  208 Gly details homologous mutations 1 1 1 D D ?
CL0,L0 p.Met  233 Ile details homologous mutations 1 2 2 N N ?
CL0,L0 p.Met  246 Leu details homologous mutations 2 4 4 N N ?
CL0 p.Ser  281 Asn details homologous mutations 8 10 10 N N N
CL0 p.Ser  283 Ala details homologous mutations 1 10 10 N N ?
CL0 p.Ser  283 Glu details homologous mutations 1 5 5 N N ?
CL0 p.Ser  283 Asp details homologous mutations 1 7 7 N N ?
CL0 p.Gln  284 Ala details homologous mutations 1 6 6 N N ?
CL0 p.Leu  287 Ala details homologous mutations 1 4 4 N N ?
CL0 p.Val  288 Ala details homologous mutations 1 2 2 N N ?
CL0 p.Lys  302 Asn details homologous mutations 2 2 2 N N ?
CL0 p.Ala  313 Gly details homologous mutations 1 2 2 D D ?
CL0 p.Lys  316 Ala details homologous mutations 2 2 2 N D ?
CL0 p.Lys  324 Ala details homologous mutations 4 7 7 N N ?
TMD1,TH1 p.Ser  325 * details homologous mutations 2 2 3 - - ?
TMD1,TH1 p.Lys  329 Ala details homologous mutations 2 2 2 D D ?
TMD1,TH1 p.Lys  329 Arg details homologous mutations 1 1 1 D N ?
TMD1,TH1 p.Asp  333 Gly details homologous mutations 4 32 33 D D ?
TMD1,EL1 p.Arg  353 His details homologous mutations 7 14 15 N N ?
TMD1,TH2 p.Cys  363 Ala details homologous mutations 1 2 2 N N ?
TMD1,TH2 p.Phe  368 Ala details homologous mutations 1 1 1 N D ?
TMD1,CL1 p.Gly  389 Cys details homologous mutations 1 1 1 D D ?
TMD1,CL1 p.Arg  393 Trp details homologous mutations 8 17 18 D D ?
TMD1,CL1 p.Tyr  401 Cys details homologous mutations 1 4 4 D D ?
TMD1,CL1 p.Ala  404 Thr details homologous mutations 2 3 3 N D ?
TMD1,CL1 p.Arg  412 Gly details homologous mutations 9 18 19 D D ?
TMD1,CL1 p.Val  417 Ile details homologous mutations 77 191 202 N N ?
TMD1,CL1 p.Gly  418 Arg details homologous mutations 2 5 5 D D ?
TMD1,CL1 p.Thr  420 Asn details homologous mutations 1 2 3 D D ?
TMD1,CL1 p.Lys  430 Arg details homologous mutations 3 3 3 N N ?
TMD1,TH3 p.His  439 Ala details homologous mutations 2 2 2 D D ?
TMD1,TH3 p.Leu  441 Met details homologous mutations 1 1 1 N N ?
TMD1,TH3 p.Ile  448 Val details homologous mutations 1 3 3 N N ?
TMD1,EL2 p.Gly  460 Ala details homologous mutations 1 1 2 D D ?
TMD1,EL2 p.Gly  460 Trp details homologous mutations 1 2 2 D D ?
TMD1,TH4 p.Val  471 Ile details homologous mutations 4 6 6 N N ?
TMD1,CL2 p.Leu  480 Phe details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Lys  483 Ala details homologous mutations 5 8 8 D D ?
TMD1,CL2 p.Thr  486 Ile details homologous mutations 13 26 27 D D ?
TMD1,CL2 p.Lys  495 Glu details homologous mutations 2 4 4 N D N
TMD1,CL2 p.Ala  516 Cys details homologous mutations 2 3 3 N D ?
TMD1,TH5 p.Phe  562 Leu details homologous mutations 2 4 4 D D ?
TMD1,EL3 p.Lys  578 Ala details homologous mutations 2 12 12 D D ?
TMD1,TH6 p.Arg  590 Ala details homologous mutations 1 1 1 D D ?
CL3 p.Ser  607 Asn details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.His  648 Arg details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Ile  670 Thr details homologous mutations 5 12 12 N D ?
CL3,NBD1,WA1 p.Gly  676 Arg details homologous mutations 9 23 24 D D ?
CL3,NBD1,WA1 p.Lys  677 Arg details homologous mutations 3 22 24 D D ?
CL3,NBD1 p.Gly  699 Ala details homologous mutations 7 19 27 D D ?
CL3,NBD1 p.Trp  709 Arg details homologous mutations 6 8 10 D D ?
CL3,NBD1 p.Asn  718 Ser details homologous mutations 5 7 7 D D ?
CL3,NBD1 p.Gly  722 Ala details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Leu  739 Phe details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Leu  739 Pro details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Lys  757 Glu details homologous mutations 1 1 1 D D ?
CL3,NBD1,SIG1 p.Arg  768 Trp details homologous mutations 44 123 141 D D D
CL3,NBD1,SIG1 p.Arg  768 Tyr details homologous mutations 1 1 1 D D D
CL3,NBD1 p.Asp  786 Glu details homologous mutations 1 4 4 D D ?
CL3,NBD1 p.Ser  789 Phe details homologous mutations 25 100 109 D D ?
CL3,NBD1 p.Ser  789 Cys details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Asp  792 Ala details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Asn  801 Ile details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Gly  808 Thr details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Leu  849 Arg details homologous mutations 4 6 6 D D ?
CL3,NBD1 p.Leu  849 Met details homologous mutations 1 1 1 D N ?
CL3 p.Asp  883 Asn details homologous mutations 4 6 6 N N ?
CL3 p.Glu  893 Gln details homologous mutations 3 5 7 N N ?
CL3 p.Glu  896 Lys details homologous mutations 1 6 6 N N ?
CL3 p.Arg  905 Cys details homologous mutations 1 7 7 N D ?
CL3 p.Arg  905 Ala details homologous mutations 1 2 2 N N ?
CL3 p.Ser  908 Ala details homologous mutations 2 27 35 N N ?
CL3 p.Ser  914 Ala details homologous mutations 1 6 7 N N ?
CL3 p.Gly  921 Ser details homologous mutations 1 5 5 N N ?
CL3 p.Leu  927 Arg details homologous mutations 3 4 6 N N ?
CL3 p.Arg  934 Gln details homologous mutations 1 3 3 N N ?
CL3 p.Lys  953 Arg details homologous mutations 1 1 1 N N ?
CL3 p.Lys  961 Arg details homologous mutations 5 6 8 N N ?
CL3 p.Gln  972 Arg details homologous mutations 1 1 1 N N ?
CL3 p.Phe  981 Leu details homologous mutations 2 2 2 N N ?
CL3 p.Ile  982 Val details homologous mutations 2 4 4 N N ?
TMD2,EL4 p.Gln 1019 His details homologous mutations 5 8 8 N N ?
TMD2,TH8 p.Arg 1023 Ala details homologous mutations 2 2 2 D D ?
TMD2,TH8 p.Val 1024 Ala details homologous mutations 1 2 2 N D ?
TMD2,TH8 p.Ile 1036 Thr details homologous mutations 3 12 12 N D N
TMD2,TH8 p.His 1042 Ala details homologous mutations 2 2 2 N N ?
TMD2,CL4 p.Lys 1058 Asn details homologous mutations 1 2 2 N N ?
TMD2,CL4 p.Asn 1063 Ser details homologous mutations 2 4 4 N D ?
TMD2,CL4 p.Arg 1066 * details homologous mutations 7 10 11 - - D
TMD2,CL4 p.Arg 1066 * details homologous mutations 1 1 1 - - D
TMD2,CL4 p.Pro 1068 Ala details homologous mutations 1 1 1 D D ?
TMD2,CL4 p.Arg 1100 His details homologous mutations 3 4 4 D D ?
TMD2,CL4 p.Arg 1100 Cys details homologous mutations 3 4 4 D D ?
TMD2,CL4 p.Arg 1100 Ala details homologous mutations 2 2 2 D D ?
TMD2,TH9 p.Leu 1107 Arg details homologous mutations 1 4 4 D D ?
TMD2,TH9 p.Ala 1119 Thr details homologous mutations 1 2 2 N N ?
TMD2,CL5 p.Arg 1150 His details homologous mutations 24 60 62 N D ?
TMD2,CL5 p.Pro 1158 Ala details homologous mutations 2 19 20 N D ?
TMD2,CL5 p.Ile 1173 Phe details homologous mutations 22 72 80 N D D
TMD2,CL5 p.Ile 1173 Arg details homologous mutations 1 1 1 D D D
TMD2,CL5 p.Arg 1174 His details homologous mutations 7 41 42 D D ?
TMD2,CL5 p.Arg 1181 Leu details homologous mutations 6 33 34 D D N
TMD2,CL5 p.Val 1188 Glu details homologous mutations 31 95 104 N N ?
TMD2,CL5 p.Val 1188 Gln details homologous mutations 1 1 1 N N ?
TMD2,TH11 p.Arg 1210 Ala details homologous mutations 7 10 10 D D ?
TMD2,EL6 p.Arg 1230 Ala details homologous mutations 3 6 6 D D ?
TMD2,TH12 p.Asn 1244 Lys details homologous mutations 6 23 23 D N ?
CL6 p.Trp 1254 Tyr details homologous mutations 7 23 25 D D ?
CL6 p.Trp 1254 Ala details homologous mutations 6 17 19 D D ?
CL6 p.Trp 1254 Phe details homologous mutations 4 26 28 D D ?
CL6 p.Trp 1254 Cys details homologous mutations 3 14 16 D D ?
CL6 p.Arg 1257 Ala details homologous mutations 7 11 11 D D ?
CL6 p.Thr 1273 Ala details homologous mutations 4 6 7 N N ?
CL6 p.Tyr 1275 * details homologous mutations 1 1 1 - - ?
CL6 p.Thr 1286 Cys details homologous mutations 1 1 1 N N ?
CL6 p.Pro 1291 Leu details homologous mutations 4 21 21 N D N
CL6 p.Lys 1299 Gln details homologous mutations 5 8 8 N N ?
CL6,NBD2 p.Arg 1310 * details homologous mutations 4 4 5 - - ?
CL6,NBD2 p.Ile 1324 Ser details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Ile 1350 Leu details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Glu 1352 Gln details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Ser 1367 Cys details homologous mutations 5 8 8 N D ?
CL6,NBD2 p.Leu 1373 His details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Pro 1381 Thr details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Gln 1382 Arg details homologous mutations 19 93 101 N D D
CL6,NBD2 p.Arg 1392 His details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Arg 1392 Met details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.His 1414 Tyr details homologous mutations 1 7 7 D D ?
CL6,NBD2,SIG2 p.Cys 1446 Gly details homologous mutations 2 3 3 D D ?
CL6,NBD2,SIG2 p.Ala 1450 Thr details homologous mutations 24 84 92 N D ?
CL6,NBD2,SIG2 p.Ala 1450 Ser details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Thr 1477 Met details homologous mutations 2 21 22 N N ?
CL6,NBD2 p.Ala 1492 Gly details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Cys 1515 Tyr details homologous mutations 37 92 99 D N ?
CL6,NBD2 p.Gln 1523 Pro details homologous mutations 1 7 7 N N ?
CL6,NBD2 p.Gly 1526 Ala details homologous mutations 1 2 2 D D ?
CL6 p.Ser 1542 Ala details homologous mutations 2 12 13 N N ?
CL6 p.Ser 1542 Glu details homologous mutations 1 16 18 N N ?
CL6 p.Thr 1543 Ala details homologous mutations 2 9 9 N N ?
CL6 p.Lys 1544 Ala details homologous mutations 1 3 3 N N ?
CL6 p.Phe 1545 Ala details homologous mutations 1 3 3 N N ?