Mutations in ABCC12
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| TMD1,CL2 | p.Thr 307 Cys | details | homologous mutations | 2 | 3 | 3 | N | D | ? |
| CL3,NBD1 | p.Pro 478 Ala | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL3 | p.Ser 789 Phe | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| TMD2,TH12 | p.Gly 1057 Ala | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
| CL6,NBD2 | p.Met 1127 Thr | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL6,NBD2 | p.Asp 1223 Glu | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL6,NBD2 | p.Thr 1291 Cys | details | homologous mutations | 1 | 2 | 2 | D | D | ? |