Mutations in ABCB7

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
TMD1,TH1 p.Leu  144 Ala details homologous mutations 1 2 7 N D ?
TMD1,TH1 p.Gly  149 Ala details homologous mutations 1 2 2 N D ?
TMD1,TH2 p.Glu  208 Asp details homologous mutations 2 3 4 D D ?
TMD1,TH4 p.Ala  294 Gly details homologous mutations 1 2 2 N D ?
TMD1,EL3 p.Ile  400 Met details homologous mutations 8 27 31 N D ?
TMD1,EL3 p.Val  411 Leu details homologous mutations 9 15 15 D D ?
TMD1,TH6 p.Glu  433 Lys details homologous mutations 8 27 31 D D ?
CL3,NBD1 p.Glu  523 Gln details homologous mutations 1 1 1 N N ?