Mutations in ABCA2
reference sequenceRegion | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
---|---|---|---|---|---|---|---|---|---|
TMD1,EL1 | p.Gly 377 Thr | details | homologous mutations | 1 | 2 | 2 | N | ! | ? |
CL3 | p.Gly 1348 Ala | details | homologous mutations | 1 | 1 | 1 | N | ! | ? |
TMD2,EL4 | p.Thr 1541 Gly | details | homologous mutations | 1 | 2 | 2 | D | ! | ? |
CL6,NBD2 | p.Cys 2135 Ser | details | homologous mutations | 1 | 1 | 1 | D | ! | ? |