Mutations in ABCA10
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| TMD1,CL1 | p.Pro 203 Ser | details | homologous mutations | 1 | 2 | 2 | D | N | ? |
| TMD1,CL2 | p.Pro 265 Phe | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
| CL6 | p.Glu 1168 Lys | details | homologous mutations | 1 | 1 | 1 | N | N | ? |