Mutations in ABCD2
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| TMD1,TH1 | p.Ala 30 Pro | details | homologous mutations | 1 | 1 | 1 | N | D | ? |
| TMD1,EL1 | p.Leu 107 Pro | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| TMD1,EL2 | p.Asp 200 Val | details | homologous mutations | 2 | 2 | 2 | D | D | ? |
| TMD1,EL2 | p.Asp 200 Asn | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| TMD1,EL2 | p.Asp 207 His | details | homologous mutations | 2 | 52 | 63 | D | D | ? |
| TMD1,TH4 | p.Ser 252 Phe | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL3,NBD1 | p.Pro 484 Arg | details | homologous mutations | 4 | 12 | 15 | D | D | ? |