Mutations in ABCD4
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| EL0,CL0 | p.Leu 21 Asn | details | homologous mutations | 1 | 1 | 1 | N | D | ? |
| TMD1,CL1 | p.Asn 141 Lys | details | homologous mutations | 1 | 3 | 3 | D | D | ? |
| TMD1,EL3 | p.Ala 304 Thr | details | homologous mutations | 1 | 2 | 2 | D | N | ? |
| TMD1,TH6 | p.Tyr 319 Cys | details | homologous mutations | 1 | 7 | 7 | D | D | D |
| CL3 | p.Glu 368 Lys | details | homologous mutations | 2 | 3 | 3 | N | N | ? |
| CL3,NBD1,WA1 | p.Lys 427 Leu | details | homologous mutations | 1 | 5 | 7 | D | D | ? |
| CL3,NBD1 | p.Gly 486 Cys | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL3,NBD1,WB1 | p.Asp 548 Asn | details | homologous mutations | 1 | 5 | 5 | D | D | ? |
| CL3,NBD1 | p.Glu 549 Gln | details | homologous mutations | 1 | 4 | 6 | D | D | ? |
| CL3,NBD1 | p.Cys 593 Arg | details | homologous mutations | 1 | 1 | 1 | N | N | ? |