Mutations in ABCC10

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
ELa p.Leu   17 Phe details homologous mutations 1 1 1 N N ?
TMD0,CLb p.Gly  128 Cys details homologous mutations 4 6 6 N N ?
TMD0,THd p.Ala  137 Gly details homologous mutations 1 1 1 N N ?
TMD1,TH2 p.His  322 Met details homologous mutations 1 1 2 N D ?
TMD1,CL2 p.Val  459 Ile details homologous mutations 1 1 1 N N ?
TMD2,CL4 p.Thr  999 Ala details homologous mutations 1 1 1 N N ?
TMD2,TH9 p.Ala 1051 Pro details homologous mutations 1 1 1 D N ?
TMD2,TH12 p.Tyr 1190 Ala details homologous mutations 1 1 1 D D ?
CL6,NBD2,SIG2 p.Gly 1385 Ala details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Thr 1465 Cys details homologous mutations 1 2 2 N N ?