Mutations in ABCC5

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0 p.Glu   22 Gln details homologous mutations 1 1 1 N N ?
CL0 p.Pro   43 Asp details homologous mutations 1 1 1 N N ?
CL0,L0 p.Asp  143 Arg details homologous mutations 1 2 2 D D ?
TMD1,TH4 p.Phe  335 Cys details homologous mutations 1 1 1 N D ?
TMD1,CL2 p.Ser  337 Cys details homologous mutations 1 2 2 D D ?
TMD1,CL2 p.Leu  339 Cys details homologous mutations 1 3 3 N D ?
TMD1,CL2 p.Phe  343 Cys details homologous mutations 1 2 2 N D ?
TMD1,CL2 p.Phe  343 Arg details homologous mutations 1 1 2 D D ?
CL3,NBD1,WA1 p.Gly  595 Pro details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Thr  779 Gly details homologous mutations 1 2 2 N N ?
TMD2,CL5 p.Arg 1096 Leu details homologous mutations 1 1 1 D D ?
TMD2,CL5 p.Arg 1096 Lys details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Glu 1204 Asp details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Ala 1239 Thr details homologous mutations 1 2 3 N D ?
CL6,NBD2 p.Gly 1249 Ala details homologous mutations 7 12 12 D D ?
CL6,NBD2 p.Ile 1251 Val details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Thr 1383 Asn details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Gly 1393 Ala details homologous mutations 1 2 2 N N ?