Mutations in ABCC9

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
ELa p.Ser   12 Asp details homologous mutations 1 1 1 N N ?
ELa p.Cys   24 Thr details homologous mutations 1 2 2 D D ?
TMD0,THa p.Phe   39 Tyr details homologous mutations 1 2 2 N N ?
TMD0,THa p.Gln   52 Asp details homologous mutations 1 1 1 D N ?
TMD0,CLa p.His   60 Tyr details homologous mutations 1 2 2 D N D
TMD0,CLa p.His   69 Arg details homologous mutations 1 1 1 D D ?
TMD0,THd p.Ile  146 Asn details homologous mutations 1 2 3 D D ?
CL0 p.Asp  207 Glu details homologous mutations 1 2 2 N D ?
TMD1,CL1 p.Gly  380 Cys details homologous mutations 1 2 2 D D ?
TMD1,TH3 p.Pro  432 Leu details homologous mutations 2 10 12 N D ?
TMD1,CL2 p.Ala  478 Val details homologous mutations 2 4 4 N D D
TMD1,CL2 p.Ser  528 Ala details homologous mutations 1 1 1 N N ?
CL3 p.Phe  594 Tyr details homologous mutations 1 1 1 N N ?
CL3 p.Arg  663 Cys details homologous mutations 1 1 1 N N
CL3 p.Ala  665 Thr details homologous mutations 1 1 1 N N ?
CL3,NBD1,WA1 p.Lys  711 Arg details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Val  729 Phe details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Asn  733 Asp details homologous mutations 1 1 1 N N
CL3,NBD1 p.Val  734 Ile details homologous mutations 6 120 136 N N
CL3,NBD1 p.Ser  889 Asn details homologous mutations 1 1 1 N N ?
CL3 p.Glu  956 Asp details homologous mutations 1 1 1 N N ?
TMD2,EL4 p.Ser 1020 Pro details homologous mutations 1 2 2 N D D
TMD2,TH8 p.Phe 1039 Ser details homologous mutations 1 2 2 D D ?
TMD2,TH8 p.Cys 1043 Tyr details homologous mutations 2 2 2 D D D
TMD2,TH8 p.Ser 1054 Tyr details homologous mutations 1 2 2 D D ?
TMD2,CL4 p.Lys 1075 Met details homologous mutations 1 1 1 N D ?
TMD2,TH9 p.Arg 1116 Cys details homologous mutations 1 2 2 D D D
TMD2,TH9 p.Arg 1116 His details homologous mutations 1 5 7 D D D
TMD2,TH9 p.Met 1127 Ile details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Arg 1154 Gln details homologous mutations 2 8 16 D N D
TMD2,CL5 p.Arg 1154 Trp details homologous mutations 2 4 6 D D D
TMD2,CL5 p.Arg 1197 Cys details homologous mutations 1 2 2 N D ?
TMD2,CL5 p.Met 1198 Ile details homologous mutations 1 1 1 N N
TMD2,TH12 p.Gly 1249 Ala details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Lys 1333 Leu details homologous mutations 1 1 1 D D ?
CL6,NBD2,WA2 p.Lys 1352 Arg details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Ser 1402 Cys details homologous mutations 1 24 25 D D ?
CL6,NBD2,SIG2 p.Ala 1462 Gly details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Ala 1513 Thr details homologous mutations 6 41 64 N N D
CL6,NBD2 p.Leu 1524 Lys details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Leu 1544 Pro details homologous mutations 1 2 2 D D ?
CL6 p.Thr 1547 Ile details homologous mutations 5 26 29 N N D