Mutations in ABCG8

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0 p.Asp   19 His details homologous mutations 81 944 1129 D N D
CL0 p.Gln   24 His details homologous mutations 1 2 2 N N ?
CL0 p.Leu   36 Pro details homologous mutations 1 1 1 D D ?
CL0,NBD1 p.Arg   50 Cys details homologous mutations 3 13 19 D D ?
CL0,NBD1 p.Tyr   54 Cys details homologous mutations 27 150 209 D D ?
CL0,NBD1 p.Tyr   54 His details homologous mutations 1 2 2 D D ?
CL0,NBD1,WA1 p.Ser  107 * details homologous mutations 4 32 34 - - D
CL0,NBD1,WA1 p.Arg  111 Met details homologous mutations 1 4 5 D D ?
CL0,NBD1,WA1 p.Arg  111 Lys details homologous mutations 1 3 4 N N ?
CL0,NBD1 p.Arg  121 * details homologous mutations 2 2 2 - - ?
CL0,NBD1 p.Arg  164 * details homologous mutations 1 1 1 - - ?
CL0,NBD1 p.Gln  172 * details homologous mutations 1 1 1 - - ?
CL0,NBD1 p.Arg  184 His details homologous mutations 3 4 6 D D ?
CL0,NBD1 p.Leu  195 Gln details homologous mutations 1 5 5 D D ?
CL0,NBD1,SIG1 p.Gly  216 Asp details homologous mutations 3 13 13 D D ?
CL0,NBD1 p.Pro  231 Thr details homologous mutations 5 6 8 D D D
CL0,NBD1 p.Glu  238 Asp details homologous mutations 1 1 3 D D ?
CL0,NBD1 p.Glu  238 Gln details homologous mutations 1 2 2 D D ?
CL0,NBD1 p.Glu  238 Leu details homologous mutations 2 7 8 D D ?
CL0,NBD1 p.Glu  238 Lys details homologous mutations 1 3 3 D D ?
CL0,NBD1 p.Ala  259 Val details homologous mutations 2 8 8 D D ?
CL0,NBD1 p.Arg  263 Gln details homologous mutations 6 7 9 D D ?
CL0,NBD1 p.Gln  271 * details homologous mutations 1 2 2 - - ?
CL0 p.Trp  361 * details homologous mutations 6 11 12 - - D
CL0 p.Thr  400 Lys details homologous mutations 55 398 518 D N N
CL0 p.Arg  405 His details homologous mutations 4 6 10 D D ?
CL0 p.Arg  412 * details homologous mutations 2 2 2 - - D
TMD1,TH1 p.Glu  423 Asp details homologous mutations 1 2 3 D N ?
TMD1,TH1 p.Met  429 Val details homologous mutations 10 36 45 N N ?
TMD1,TH3 p.Leu  501 Pro details homologous mutations 3 4 6 D D ?
TMD1,TH4 p.Trp  536 * details homologous mutations 1 1 1 - - ?
TMD1,TH4 p.Arg  543 Ser details homologous mutations 4 8 9 D N ?
TMD1,TH5 p.Leu  572 Pro details homologous mutations 2 2 3 D D ?
TMD1,TH5 p.Gly  574 Glu details homologous mutations 5 8 10 D D ?
TMD1,TH5 p.Gly  574 Arg details homologous mutations 13 42 65 D D ?
TMD1,TH5 p.Gly  575 Arg details homologous mutations 4 10 10 D D ?
TMD1,EL3 p.Leu  596 Arg details homologous mutations 7 12 20 D D D
TMD1,EL3 p.Val  632 Ala details homologous mutations 1 1 2 N N ?
TMD1,TH6 p.Tyr  641 Phe details homologous mutations 1 2 2 D N ?
TMD1,TH6 p.Leu  650 Arg details homologous mutations 1 4 5 N D ?
TMD1,TH6 p.Tyr  658 * details homologous mutations 1 1 1 - - D