Mutations in ABCC3

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
ELa p.Gly   11 Asp details homologous mutations 4 14 14 N N ?
ELa p.Lys   13 Asn details homologous mutations 3 8 10 N N ?
ELa p.Ser   17 Gly details homologous mutations 1 17 18 N N ?
ELa p.Ser   17 Ala details homologous mutations 1 1 1 N N ?
ELa p.Ser   17 Asp details homologous mutations 1 1 1 N N ?
TMD0,CLa p.His   68 Tyr details homologous mutations 7 14 14 N N ?
TMD0,ELb p.Arg   99 Gln details homologous mutations 2 9 9 N N ?
TMD0,THc p.Val  104 Met details homologous mutations 1 1 1 D N ?
TMD0,ELc p.Asp  167 Arg details homologous mutations 1 2 2 D D ?
CL0,L0 p.Arg  248 Gln details homologous mutations 1 1 1 N N ?
CL0 p.Thr  306 Ile details homologous mutations 1 2 2 D D ?
CL0 p.Gly  308 Val details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Ser  346 Phe details homologous mutations 6 26 26 D D ?
TMD1,EL1 p.Ser  346 Ile details homologous mutations 1 1 1 N N ?
TMD1,CL1 p.Ala  403 Cys details homologous mutations 1 1 1 N N ?
TMD1,TH4 p.Pro  450 Arg details homologous mutations 1 1 4 D D ?
TMD1,CL2 p.Gln  513 Lys details homologous mutations 4 10 10 N N ?
TMD1,CL2 p.Arg  518 * details homologous mutations 1 1 1 - - ?
TMD1,CL2 p.Arg  518 Gln details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Thr  527 Arg details homologous mutations 1 2 2 N N ?
TMD1,CL2 p.Ala  528 Gly details homologous mutations 1 2 2 N N ?
TMD1,TH5 p.Leu  548 Gln details homologous mutations 3 8 8 D D ?
TMD1,TH5 p.Thr  550 Ala details homologous mutations 1 1 1 D D ?
CL3 p.Ser  607 Asn details homologous mutations 3 18 18 N N ?
CL3,NBD1 p.Gly  676 Arg details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Gly  689 Ala details homologous mutations 3 5 5 D D ?
CL3,NBD1 p.Lys  718 Met details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Thr  742 Cys details homologous mutations 1 2 2 D D ?
CL3,NBD1,SIG1 p.Val  765 Leu details homologous mutations 4 13 13 N N ?
CL3,NBD1 p.Asp  770 Asn details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Val  799 Met details homologous mutations 3 7 7 N N ?
CL3,NBD1 p.Thr  809 Met details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Val  829 Ile details homologous mutations 1 1 1 N N ?
CL3 p.Pro  920 Ser details homologous mutations 3 12 12 N N ?
CL3 p.Arg  923 Gln details homologous mutations 3 12 12 N N ?
TMD2,TH7 p.Ser  993 Cys details homologous mutations 1 1 1 D D ?
TMD2,CL5 p.Arg 1138 Gln details homologous mutations 1 1 1 D D ?
TMD2,CL5 p.Ile 1173 Phe details homologous mutations 1 2 2 N N ?
TMD2,EL6 p.Ser 1219 Arg details homologous mutations 3 9 9 N N ?
TMD2,TH12 p.Ser 1229 Ala details homologous mutations 1 7 7 N N ?
TMD2,TH12 p.Ser 1231 Ala details homologous mutations 1 7 7 D N ?
TMD2,TH12 p.Tyr 1232 Phe details homologous mutations 1 8 8 D D ?
TMD2,TH12 p.Ser 1233 Ala details homologous mutations 1 7 7 N N ?
TMD2,TH12 p.Gln 1235 Ala details homologous mutations 1 14 14 D D ?
TMD2,TH12 p.Thr 1237 Ala details homologous mutations 1 21 21 D D ?
TMD2,TH12 p.Thr 1237 Ser details homologous mutations 1 6 6 N D ?
TMD2,TH12 p.Thr 1237 Leu details homologous mutations 1 6 6 D D ?
TMD2,TH12 p.Thr 1237 Gly details homologous mutations 1 8 8 D D ?
TMD2,TH12 p.Asn 1241 Ala details homologous mutations 1 8 8 D D ?
CL6 p.Trp 1242 Phe details homologous mutations 1 20 20 D D ?
CL6 p.Trp 1242 Cys details homologous mutations 1 20 20 D D ?
CL6 p.Trp 1242 Ala details homologous mutations 2 22 22 D D ?
CL6 p.Trp 1242 Pro details homologous mutations 1 12 12 D D ?
CL6 p.Trp 1242 Tyr details homologous mutations 1 24 24 D D ?
CL6 p.Arg 1286 Gly details homologous mutations 3 12 12 D N ?
CL6,NBD2 p.Arg 1297 His details homologous mutations 20 99 113 D D ?
CL6,NBD2 p.Pro 1300 Leu details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Gly 1316 Ala details homologous mutations 2 2 2 N D ?
CL6,NBD2 p.Val 1322 Phe details homologous mutations 2 13 13 D D ?
CL6,NBD2 p.Arg 1348 Cys details homologous mutations 4 14 14 N N ?
CL6,NBD2 p.Asp 1361 Asn details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Leu 1362 Val details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Gln 1365 Arg details homologous mutations 4 13 13 D N ?
CL6,NBD2 p.Arg 1381 Ser details homologous mutations 4 35 40 D D ?
CL6,NBD2 p.Ala 1398 Val details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Thr 1406 Met details homologous mutations 3 8 8 N N ?
CL6,NBD2 p.Gly 1423 Arg details homologous mutations 4 11 11 D D ?
CL6,NBD2 p.Thr 1476 Met details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Arg 1492 Trp details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Ala 1513 Asp details homologous mutations 1 2 2 N N ?