Mutations in ABCB9
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| TMD0,THd | p.Val 121 Met | details | homologous mutations | 1 | 4 | 4 | D | N | ? |
| TMD0,THd | p.Leu 137 Ala | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
| CL3,NBD1,WA1 | p.Lys 545 Ala | details | homologous mutations | 1 | 4 | 4 | D | D | ? |
| CL3,NBD1,WA1 | p.Lys 545 Met | details | homologous mutations | 1 | 16 | 21 | D | D | ? |
| CL3,NBD1 | p.Arg 659 Gln | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL3,NBD1 | p.His 699 Ala | details | homologous mutations | 1 | 4 | 4 | D | D | ? |
| CL3,NBD1 | p.Lys 736 Ile | details | homologous mutations | 1 | 1 | 1 | D | D | ? |