Mutations in ABCB6

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
ELa p.Gly   12 Val details homologous mutations 1 1 1 N N ?
ELa p.Cys   26 Ala details homologous mutations 1 10 10 D D ?
ELa p.Cys   26 His details homologous mutations 1 1 1 D D ?
ELa p.Cys   26 Ser details homologous mutations 1 2 4 D D ?
TMD0,THa p.Gly   40 Ala details homologous mutations 1 1 1 N N ?
TMD0,CLa p.Cys   50 Ala details homologous mutations 1 6 10 N N ?
TMD0,CLa p.Ala   57 Thr details homologous mutations 4 11 11 N N D
TMD0,THb p.Pro   72 Arg details homologous mutations 1 1 1 D N ?
TMD0,THc p.Cys  120 Ala details homologous mutations 1 1 2 N N ?
TMD0,ELc p.Ser  170 Gly details homologous mutations 3 8 8 N N D
TMD0,THe p.Arg  192 Trp details homologous mutations 1 45 54 D D ?
TMD0,THe p.Arg  192 Gln details homologous mutations 1 4 4 D D
TMD1,TH1 p.Arg  276 Trp details homologous mutations 1 14 14 D D ?
TMD1,TH2 p.Ser  322 Lys details homologous mutations 2 5 5 N D ?
TMD1,TH2 p.Ser  322 Leu details homologous mutations 1 1 1 N D ?
TMD1,TH2 p.Ser  322 Arg details homologous mutations 1 3 3 N D ?
TMD1,CL1 p.Leu  356 Pro details homologous mutations 3 8 8 D D D
TMD1,CL1 p.Arg  375 Trp details homologous mutations 1 1 1 D D ?
TMD1,CL1 p.Arg  375 Gln details homologous mutations 2 2 2 D D ?
TMD1,TH4 p.Tyr  424 His details homologous mutations 1 3 3 D D ?
TMD1,CL2 p.Ala  453 Val details homologous mutations 2 7 7 D D ?
CL3 p.Gln  555 Lys details homologous mutations 2 4 4 D D D
CL3 p.Gly  579 Glu details homologous mutations 3 8 8 N D D
CL3 p.Gly  588 Ser details homologous mutations 1 16 17 D D ?
CL3,NBD1,WA1 p.Gly  628 Ala details homologous mutations 1 12 12 D D ?
CL3,NBD1,WA1 p.Lys  629 Gly details homologous mutations 1 1 1 D D ?
CL3,NBD1,WA1 p.Lys  629 Met details homologous mutations 2 3 3 D D ?
CL3,NBD1,WA1 p.Lys  629 Arg details homologous mutations 1 12 12 D D ?
CL3,NBD1,WA1 p.Lys  629 Ala details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Leu  811 Val details homologous mutations 4 12 13 D D D