Mutations in ABCC4

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0,L0 p.Leu   18 Ile details homologous mutations 2 4 5 N N ?
CL0,L0 p.His   35 Asp details homologous mutations 1 4 4 D D ?
CL0,L0 p.Ser   46 Asn details homologous mutations 1 3 3 N N ?
CL0,L0 p.Trp   64 Arg details homologous mutations 1 1 1 D D ?
CL0 p.Pro   78 Ala details homologous mutations 3 10 12 D D ?
TMD1,TH2 p.Ala  134 Ser details homologous mutations 1 1 1 N N ?
TMD1,CL1 p.Val  159 Met details homologous mutations 1 1 1 N N ?
TMD1,CL1 p.Cys  171 Gly details homologous mutations 2 6 6 D D ?
TMD1,CL1 p.His  172 Gln details homologous mutations 1 1 1 N D ?
TMD1,CL1 p.Met  173 Thr details homologous mutations 1 1 1 N D ?
TMD1,CL1 p.Met  184 Thr details homologous mutations 2 3 4 N N ?
TMD1,CL1 p.Met  184 Val details homologous mutations 2 2 2 N N ?
TMD1,CL1 p.Gly  187 Trp details homologous mutations 8 49 58 D D ?
TMD1,CL2 p.Arg  262 Lys details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Lys  293 Glu details homologous mutations 3 5 6 N D ?
TMD1,CL2 p.Lys  304 Asn details homologous mutations 11 34 37 N N ?
TMD1,TH6 p.Thr  356 Met details homologous mutations 2 3 4 N N ?
TMD1,TH6 p.Thr  364 Arg details homologous mutations 1 1 1 D D ?
TMD1,TH6 p.Phe  368 Leu details homologous mutations 1 8 10 N D ?
TMD1,TH6 p.Phe  368 Trp details homologous mutations 1 39 51 D D ?
TMD1,TH6 p.Phe  368 Tyr details homologous mutations 1 11 13 N N ?
TMD1,TH6 p.Phe  368 Ala details homologous mutations 1 4 4 N D ?
CL3 p.Glu  374 Ser details homologous mutations 1 9 11 N N ?
CL3 p.Arg  375 Ser details homologous mutations 1 27 29 N N ?
CL3 p.Arg  375 Glu details homologous mutations 1 9 9 D N ?
CL3 p.Arg  375 Ala details homologous mutations 1 10 10 D N ?
CL3 p.Arg  375 Lys details homologous mutations 1 8 8 N N ?
CL3 p.Glu  378 Gln details homologous mutations 1 8 10 D D ?
CL3 p.Pro  403 Leu details homologous mutations 4 10 14 D D ?
CL3,NBD1,WA1 p.Gly  445 Cys details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Tyr  477 Trp details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Gly  487 Glu details homologous mutations 5 34 38 D D ?
CL3,NBD1 p.Lys  498 Glu details homologous mutations 5 13 15 N N ?
CL3,NBD1 p.Arg  531 Gln details homologous mutations 3 10 12 D D ?
CL3,NBD1,SIG1 p.Gly  538 Asp details homologous mutations 1 5 5 D D ?
CL3,NBD1,SIG1 p.Gly  538 Ala details homologous mutations 2 7 7 D D ?
CL3,NBD1,SIG1 p.Ala  548 Gly details homologous mutations 1 1 1 N D ?
CL3,NBD1,WB1 p.Tyr  556 Cys details homologous mutations 5 33 35 D D ?
CL3,NBD1,WB1 p.Leu  557 Pro details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Glu  575 Lys details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Thr  587 Gly details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Ala  600 Pro details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Ile  625 Met details homologous mutations 2 3 4 D N ?
CL3 p.Ser  664 Phe details homologous mutations 1 1 1 N D ?
CL3 p.Pro  667 Leu details homologous mutations 2 3 4 N D ?
CL3 p.Gln  677 Arg details homologous mutations 1 2 2 N N ?
TMD2,EL4 p.Met  744 Val details homologous mutations 4 9 13 D N ?
TMD2,EL4 p.Glu  757 Lys details homologous mutations 12 30 35 D N ?
TMD2,TH8 p.Val  776 Ile details homologous mutations 4 29 33 N N ?
TMD2,CL4 p.Ser  794 Leu details homologous mutations 1 6 6 D D ?
TMD2,CL4 p.Thr  796 Met details homologous mutations 1 83 117 N D ?
TMD2,CL4 p.His  798 Tyr details homologous mutations 1 4 4 D D ?
TMD2,CL4 p.Met  801 Val details homologous mutations 1 1 1 N D ?
TMD2,CL4 p.Arg  815 Ala details homologous mutations 1 14 20 N N ?
TMD2,CL4 p.Arg  820 Ile details homologous mutations 4 11 12 D D ?
TMD2,TH9 p.Val  854 Phe details homologous mutations 6 22 25 D D ?
TMD2,TH10 p.Ile  866 Val details homologous mutations 4 10 12 D N ?
TMD2,CL5 p.Val  900 Leu details homologous mutations 2 3 4 D N ?
TMD2,TH11 p.Cys  956 Ser details homologous mutations 3 14 16 D D ?
CL6 p.Trp  995 Phe details homologous mutations 1 11 13 D D ?
CL6 p.Trp  995 Ala details homologous mutations 1 4 4 D D ?
CL6 p.Trp  995 Tyr details homologous mutations 1 12 14 D D ?
CL6 p.Arg  998 Ala details homologous mutations 2 7 7 D D ?
CL6 p.Arg  998 Lys details homologous mutations 2 3 3 D N ?
CL6 p.Arg  998 Glu details homologous mutations 1 1 1 D D ?
CL6 p.Arg  998 Leu details homologous mutations 1 2 2 D D ?
CL6 p.Arg  998 Ser details homologous mutations 1 2 2 D D ?
CL6 p.Arg  998 Tyr details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Thr 1062 Cys details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Ala 1063 Gly details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Val 1071 Ile details homologous mutations 4 17 18 N N ?
CL6,NBD2,WA2 p.Lys 1081 Asn details homologous mutations 1 3 3 D D ?
CL6,NBD2 p.Leu 1084 Lys details homologous mutations 2 2 3 D D ?
CL6,NBD2 p.Ile 1103 Val details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Arg 1114 Cys details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Pro 1121 Ala details homologous mutations 1 1 2 D D ?
CL6,NBD2 p.Thr 1130 Met details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Thr 1142 Met details homologous mutations 8 18 21 D D ?
CL6,NBD2 p.Ser 1173 Ala details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Glu 1202 Ala details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Arg 1220 Gln details homologous mutations 3 4 5 N D ?
CL6,NBD2 p.Ser 1267 Gly details homologous mutations 1 2 2 N N ?
CL6,NBD2 p.Met 1272 Val details homologous mutations 1 2 4 N D ?
CL6 p.Lys 1289 Arg details homologous mutations 1 1 1 N N ?
CL6 p.Gln 1314 Arg details homologous mutations 2 3 4 N N ?
CL6 p.Leu 1325 Ala details homologous mutations 1 8 9 D N ?