Mutations in ABCG1
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| CL0,NBD1 | p.Ser 85 Ala | details | homologous mutations | 1 | 2 | 2 | N | N | ? |
| CL0,NBD1,WA1 | p.Gly 121 Ala | details | homologous mutations | 2 | 8 | 8 | D | D | ? |
| CL0,NBD1,WA1 | p.Lys 124 Met | details | homologous mutations | 4 | 22 | 25 | D | D | ? |
| CL0 | p.Ser 388 Ala | details | homologous mutations | 1 | 3 | 3 | N | N | ? |
| CL0 | p.Ser 389 Ala | details | homologous mutations | 1 | 3 | 3 | N | N | ? |
| CL0 | p.Ser 389 Asp | details | homologous mutations | 1 | 4 | 4 | N | N | ? |
| CL0 | p.Ser 390 Ala | details | homologous mutations | 1 | 3 | 3 | N | N | ? |
| TMD1,EL3 | p.Tyr 649 Leu | details | homologous mutations | 1 | 7 | 7 | N | D | ? |
| TMD1,TH6 | p.Tyr 667 Leu | details | homologous mutations | 1 | 22 | 25 | D | D | ? |
| CL3 | p.Tyr 672 Leu | details | homologous mutations | 1 | 6 | 6 | N | D | ? |