Mutations in ABCC5
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| CL0 | p.Glu 22 Gln | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL0 | p.Pro 43 Asp | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL0,L0 | p.Asp 143 Arg | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
| TMD1,TH4 | p.Phe 335 Cys | details | homologous mutations | 1 | 1 | 1 | N | D | ? |
| TMD1,CL2 | p.Ser 337 Cys | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
| TMD1,CL2 | p.Leu 339 Cys | details | homologous mutations | 1 | 3 | 3 | N | D | ? |
| TMD1,CL2 | p.Phe 343 Cys | details | homologous mutations | 1 | 2 | 2 | N | D | ? |
| TMD1,CL2 | p.Phe 343 Arg | details | homologous mutations | 1 | 1 | 2 | D | D | ? |
| CL3,NBD1,WA1 | p.Gly 595 Pro | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL3,NBD1 | p.Thr 779 Gly | details | homologous mutations | 1 | 2 | 2 | N | N | ? |
| TMD2,CL5 | p.Arg 1096 Leu | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| TMD2,CL5 | p.Arg 1096 Lys | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL6,NBD2 | p.Glu 1204 Asp | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL6,NBD2 | p.Ala 1239 Thr | details | homologous mutations | 1 | 2 | 3 | N | D | ? |
| CL6,NBD2 | p.Gly 1249 Ala | details | homologous mutations | 7 | 12 | 12 | D | D | ? |
| CL6,NBD2 | p.Ile 1251 Val | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| CL6,NBD2 | p.Thr 1383 Asn | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL6,NBD2 | p.Gly 1393 Ala | details | homologous mutations | 1 | 2 | 2 | N | N | ? |