Mutations in ABCA13
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| TMD1,EL1 | p.Leu 2094 Met | details | homologous mutations | 1 | 1 | 1 | N | ! | ? |
| TMD1,CL1 | p.Arg 3604 Gln | details | homologous mutations | 1 | 3 | 4 | D | ! | ? |
| TMD1,CL1 | p.His 3609 Pro | details | homologous mutations | 2 | 13 | 19 | D | ! | ? |
| TMD1,EL3 | p.Ser 3704 Arg | details | homologous mutations | 1 | 11 | 14 | D | ! | ? |
| CL3,NBD1 | p.Thr 4031 Ala | details | homologous mutations | 3 | 28 | 32 | D | ! | ? |
| CL3,NBD1 | p.Leu 4047 Val | details | homologous mutations | 1 | 1 | 1 | N | ! | ? |
| TMD2,EL4 | p.His 4262 Arg | details | homologous mutations | 1 | 4 | 5 | D | ! | ? |
| TMD2,EL4 | p.Arg 4454 Cys | details | homologous mutations | 1 | 1 | 1 | N | ! | ? |
| TMD2,TH8 | p.Leu 4464 Met | details | homologous mutations | 1 | 1 | 1 | N | ! | ? |
| TMD2,TH10 | p.Thr 4550 Ala | details | homologous mutations | 2 | 15 | 16 | N | ! | ? |
| TMD2,EL6 | p.Arg 4590 Trp | details | homologous mutations | 2 | 10 | 12 | D | ! | ? |
| TMD2,EL6 | p.Pro 4648 Ala | details | homologous mutations | 1 | 5 | 6 | D | ! | ? |
| CL6,NBD2 | p.Arg 4728 * | details | homologous mutations | 1 | 13 | 16 | - | - | ? |
| CL6,NBD2 | p.Ile 4841 Val | details | homologous mutations | 1 | 1 | 1 | N | ! | ? |
| CL6,NBD2 | p.Arg 4843 Cys | details | homologous mutations | 3 | 11 | 12 | N | ! | ? |
| CL6,NBD2 | p.Arg 4843 Leu | details | homologous mutations | 1 | 1 | 1 | D | ! | ? |