Mutations in ABCC11
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| CL0 | p.Arg 19 His | details | homologous mutations | 1 | 1 | 1 | D | N | ? |
| CL0,L0 | p.Leu 95 Ala | details | homologous mutations | 1 | 8 | 8 | N | N | ? |
| TMD1,TH1 | p.Gly 180 Arg | details | homologous mutations | 24 | 72 | 74 | D | D | ? |
| TMD1,TH1 | p.Gly 180 His | details | homologous mutations | 1 | 4 | 4 | D | D | ? |
| TMD1,TH1 | p.Gly 180 Lys | details | homologous mutations | 1 | 4 | 4 | D | D | ? |
| TMD1,CL1 | p.Ala 236 Gly | details | homologous mutations | 1 | 2 | 2 | N | N | ? |
| CL3 | p.Ala 473 Cys | details | homologous mutations | 1 | 5 | 5 | N | D | ? |
| TMD2,EL4 | p.Asn 838 Gln | details | homologous mutations | 1 | 8 | 12 | D | D | ? |
| TMD2,EL4 | p.Asn 844 Gln | details | homologous mutations | 1 | 8 | 10 | D | D | ? |
| TMD2,CL5 | p.Asn 992 Ser | details | homologous mutations | 1 | 1 | 1 | N | D | ? |
| TMD2,TH12 | p.Gln 1086 Glu | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL6 | p.Arg 1096 Lys | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| CL6,NBD2 | p.Ile 1173 Phe | details | homologous mutations | 2 | 2 | 2 | D | D | ? |