Mutations in ABCA6
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| CL6,NBD2 | p.Cys 1359 Arg | details | homologous mutations | 1 | 1 | 1 | D | D | ? |