Mutations in ABCB10
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| CL0 | p.Leu 46 Gln | details | homologous mutations | 1 | 9 | 10 | D | N | ? |
| CL0 | p.Ser 80 Cys | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL0 | p.Ala 150 Ser | details | homologous mutations | 1 | 4 | 4 | N | N | ? |
| TMD1,TH3 | p.Ser 305 Cys | details | homologous mutations | 1 | 1 | 1 | N | D | ? |
| TMD1,CL2 | p.Leu 339 Cys | details | homologous mutations | 1 | 2 | 4 | N | D | ? |
| CL3,NBD1 | p.Glu 602 Arg | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL3,NBD1 | p.Glu 602 Asp | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL3,NBD1 | p.Glu 659 Gln | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL3,NBD1 | p.Arg 691 His | details | homologous mutations | 1 | 2 | 2 | D | D | ? |