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 | ? |