Mutations in ABCA8
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| TMD1,TH3 | p.Val 287 Ile | details | homologous mutations | 1 | 2 | 2 | N | N | ? |