Mutations in ABCB3

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
ELa p.Leu    3 Val details homologous mutations 1 2 2 N N ?
TMD0,THa p.Gly   25 Ala details homologous mutations 1 7 7 D N ?
TMD0,CLa p.Leu   46 Pro details homologous mutations 1 2 2 D D ?
TMD0,THb p.Cys   70 Ser details homologous mutations 1 2 2 N D ?
TMD0,THb p.Leu   75 * details homologous mutations 1 3 3 - - ?
CL0 p.Ser  145 Ala details homologous mutations 1 1 1 N N ?
TMD1,TH1 p.Glu  166 Ala details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Arg  175 His details homologous mutations 2 8 8 N D ?
TMD1,EL1 p.Asp  178 Lys details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Asp  178 Arg details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Leu  180 Gln details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Leu  180 Pro details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Gly  181 Arg details homologous mutations 1 11 11 N D ?
TMD1,EL1 p.Ala  192 Thr details homologous mutations 1 10 10 N D ?
TMD1,TH2 p.Cys  197 Ala details homologous mutations 1 2 2 N D ?
TMD1,TH2 p.Cys  209 Ala details homologous mutations 1 2 2 N D ?
TMD1,TH2 p.Cys  213 Met details homologous mutations 1 3 3 N N ?
TMD1,TH2 p.Cys  213 Ser details homologous mutations 1 2 2 N N ?
TMD1,CL1 p.Ser  251 Pro details homologous mutations 1 1 1 D D ?
TMD1,CL1 p.Ser  251 Cys details homologous mutations 1 2 2 D D ?
TMD1,CL1 p.Ser  251 Ala details homologous mutations 1 1 1 D D ?
TMD1,CL1 p.Thr  257 Ile details homologous mutations 1 1 1 D D ?
TMD1,TH3 p.Pro  265 Phe details homologous mutations 1 1 1 D D ?
TMD1,TH3 p.Leu  266 Phe details homologous mutations 1 5 5 N N ?
TMD1,TH3 p.Leu  272 Pro details homologous mutations 1 2 2 D D ?
TMD1,TH3 p.Arg  273 His details homologous mutations 1 3 3 D D ?
TMD1,TH3 p.Met  285 Cys details homologous mutations 1 2 4 N D ?
TMD1,TH4 p.Thr  293 Pro details homologous mutations 1 1 1 D D ?
TMD1,TH4 p.Arg  313 His details homologous mutations 1 1 1 N N ?
TMD1,CL2 p.Val  331 Cys details homologous mutations 1 4 4 N D ?
TMD1,CL2 p.Gly  338 Ala details homologous mutations 1 1 2 N N ?
TMD1,CL2 p.Cys  353 Ser details homologous mutations 1 2 2 N N ?
TMD1,CL2 p.Cys  362 Ala details homologous mutations 1 5 5 N N ?
TMD1,TH5 p.Arg  373 Cys details homologous mutations 1 2 2 D D ?
TMD1,TH5 p.Ala  374 Asp details homologous mutations 4 9 9 D D ?
TMD1,TH5 p.Ala  374 Thr details homologous mutations 1 1 1 D D ?
TMD1,TH5 p.Val  379 Ile details homologous mutations 13 22 23 N N N
TMD1,TH5 p.Val  379 Ala details homologous mutations 1 1 2 N N ?
TMD1,TH5 p.Arg  380 Gln details homologous mutations 1 1 1 D N ?
TMD1,EL3 p.Cys  394 Val details homologous mutations 1 2 2 N D ?
TMD1,EL3 p.Leu  410 Phe details homologous mutations 4 15 16 N D ?
CL3 p.Leu  464 Phe details homologous mutations 1 1 1 N D ?
CL3,NBD1,WA1 p.Lys  509 Met details homologous mutations 3 93 119 D D ?
CL3,NBD1,WA1 p.Lys  509 Ala details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Cys  540 His details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Glu  552 Gln details homologous mutations 4 41 44 D D ?
CL3,NBD1 p.Glu  552 Ala details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.Ala  565 Thr details homologous mutations 13 21 22 N N ?
CL3,NBD1 p.Cys  571 Ser details homologous mutations 1 2 2 N D ?
CL3,NBD1 p.Met  577 Val details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Glu  602 Ala details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Glu  602 Cys details homologous mutations 1 27 33 D D ?
CL3,NBD1 p.Glu  602 Asp details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Glu  602 Arg details homologous mutations 1 2 2 D D ?
CL3,NBD1,SIG1 p.Leu  607 Ala details homologous mutations 1 2 2 D D ?
CL3,NBD1,SIG1 p.Ala  609 Gly details homologous mutations 1 2 2 N N ?
CL3,NBD1,SIG1 p.Ala  609 Val details homologous mutations 1 1 1 N N ?
CL3,NBD1,SIG1 p.Gly  610 Asp details homologous mutations 1 2 2 D D ?
CL3,NBD1,SIG1 p.Gly  610 Val details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Glu  632 Gln details homologous mutations 2 115 215 D D ?
CL3,NBD1 p.Glu  632 Asp details homologous mutations 1 27 51 D N ?
CL3,NBD1 p.Cys  641 Ser details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Arg  651 Cys details homologous mutations 8 18 19 N N ?
CL3,NBD1 p.Arg  651 Trp details homologous mutations 1 1 1 D N ?
CL3,NBD1 p.Thr  655 Ala details homologous mutations 1 1 2 D D ?
CL3,NBD1 p.Val  656 Leu details homologous mutations 1 7 11 N N ?
CL3,NBD1 p.Val  656 Ala details homologous mutations 1 4 4 N D ?
CL3,NBD1 p.His  661 Ala details homologous mutations 1 27 36 D D ?
CL3,NBD1 p.His  661 Gln details homologous mutations 1 24 42 D D ?
CL3,NBD1 p.Arg  662 Leu details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Thr  665 Ala details homologous mutations 11 18 19 D D ?