Mutations in ABCB5
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| TMD1,TH2 | p.Val 115 Glu | details | homologous mutations | 1 | 14 | 15 | N | N | ? |
| TMD1,TH6 | p.Glu 347 Arg | details | homologous mutations | 1 | 1 | D | D | ? | |
| CL3 | p.Ala 375 Pro | details | homologous mutations | 1 | 2 | 2 | N | N | ? |
| CL3,NBD1 | p.Lys 521 Leu | details | homologous mutations | 1 | 1 | 1 | N | D | ? |
| CL3,NBD1 | p.Ala 562 Arg | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL3,NBD1 | p.Ala 580 Ser | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL3,NBD1 | p.Ser 584 Gly | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL3 | p.Pro 687 Ser | details | homologous mutations | 1 | 1 | 1 | N | N | ? |