Mutations in ABCG5

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0 p.Gln   16 * details homologous mutations 1 4 4 - - D
CL0 p.Arg   50 Cys details homologous mutations 11 18 18 D D ?
CL0,NBD1 p.Glu   77 * details homologous mutations 2 4 4 - - D
CL0,NBD1,WA1 p.Lys   92 Met details homologous mutations 1 6 6 D D ?
CL0,NBD1 p.Glu  146 Gln details homologous mutations 4 8 9 D D ?
CL0,NBD1 p.Glu  146 * details homologous mutations 1 2 2 - - ?
CL0,NBD1 p.Arg  243 * details homologous mutations 3 7 8 - - D
CL0,NBD1 p.Gly  269 Arg details homologous mutations 2 6 6 D D ?
CL0,NBD1 p.Cys  287 Arg details homologous mutations 1 8 10 D D ?
CL0 p.Tyr  329 * details homologous mutations 1 4 4 - - ?
TMD1,TH1 p.Arg  389 His details homologous mutations 10 29 53 D N D
TMD1,EL1 p.Arg  406 Gln details homologous mutations 1 4 4 D N ?
TMD1,EL1 p.Arg  408 * details homologous mutations 3 6 6 - - ?
TMD1,EL1 p.Arg  419 His details homologous mutations 9 21 31 D D ?
TMD1,EL1 p.Arg  419 Pro details homologous mutations 7 14 19 D D D
TMD1,TH2 p.Asn  437 Lys details homologous mutations 5 17 17 D D ?
TMD1,TH2 p.Asn  437 Gln details homologous mutations 1 2 2 D D ?
TMD1,CL1 p.Arg  446 * details homologous mutations 4 11 14 - - D
TMD1,CL1 p.Asp  450 His details homologous mutations 2 5 5 N N ?
TMD1,TH4 p.Ile  523 Val details homologous mutations 1 2 2 N N ?
TMD1,EL3 p.Arg  550 Ser details homologous mutations 4 5 8 D D ?
TMD1,EL3 p.Asn  584 Gln details homologous mutations 1 10 16 N N ?
TMD1,EL3 p.Asn  591 Gln details homologous mutations 1 11 16 D D ?
TMD1,EL3 p.Cys  600 Tyr details homologous mutations 2 3 3 D D ?
TMD1,EL3 p.Gln  604 Glu details homologous mutations 48 297 401 D N ?
TMD1,EL3 p.Gln  604 Lys details homologous mutations 1 6 6 D N ?
TMD1,EL3 p.Met  622 Val details homologous mutations 2 3 3 N N