Mutations in ABCC10
reference sequenceRegion | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
---|---|---|---|---|---|---|---|---|---|
ELa | p.Leu 17 Phe | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
TMD0,CLb | p.Gly 128 Cys | details | homologous mutations | 4 | 6 | 6 | N | N | ? |
TMD0,THd | p.Ala 137 Gly | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
TMD1,TH2 | p.His 322 Met | details | homologous mutations | 1 | 1 | 2 | N | D | ? |
TMD1,CL2 | p.Val 459 Ile | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
TMD2,CL4 | p.Thr 999 Ala | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
TMD2,TH9 | p.Ala 1051 Pro | details | homologous mutations | 1 | 1 | 1 | D | N | ? |
TMD2,TH12 | p.Tyr 1190 Ala | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
CL6,NBD2,SIG2 | p.Gly 1385 Ala | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
CL6,NBD2 | p.Thr 1465 Cys | details | homologous mutations | 1 | 2 | 2 | N | N | ? |