Mutations in ABCA12
reference sequence| Region | Mutation | Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
||
|---|---|---|---|---|---|---|---|---|---|
| TMD1,EL1 | p.Arg 287 * | details | homologous mutations | 1 | 3 | 3 | - | - | D |
| TMD1,EL1 | p.Thr 345 Pro | details | homologous mutations | 2 | 2 | 3 | D | N | ? |
| TMD1,EL1 | p.Ser 387 Asn | details | homologous mutations | 5 | 23 | 23 | N | N | ? |
| TMD1,EL1 | p.Trp 601 * | details | homologous mutations | 1 | 2 | 2 | - | - | ? |
| TMD1,EL1 | p.Gly 969 Ala | details | homologous mutations | 1 | 1 | 1 | N | N | ? |
| TMD1,EL1 | p.Arg 986 Trp | details | homologous mutations | 1 | 3 | 3 | D | D | ? |
| TMD1,CL1 | p.Val 1089 Phe | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
| TMD1,CL1 | p.Tyr 1090 * | details | homologous mutations | 1 | 5 | 6 | - | - | ? |
| TMD1,CL1 | p.Met 1100 Arg | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| TMD1,EL2 | p.Gly 1136 Asp | details | homologous mutations | 3 | 7 | 8 | D | D | ? |
| TMD1,EL2 | p.Gly 1136 Asn | details | homologous mutations | 1 | 1 | 1 | D | D | ? |
| TMD1,TH5 | p.Gly 1179 Arg | details | homologous mutations | 3 | 17 | 17 | D | D | D |
| TMD1,EL3 | p.Arg 1225 * | details | homologous mutations | 1 | 3 | 3 | - | - | ? |
| TMD1,EL3 | p.Trp 1235 Ser | details | homologous mutations | 2 | 3 | 4 | D | D | ? |
| CL3 | p.Trp 1294 * | details | homologous mutations | 1 | 1 | 1 | - | - | ? |
| CL3,NBD1,WA1 | p.Asn 1380 Ser | details | homologous mutations | 4 | 15 | 23 | D | D | D |
| CL3,NBD1,WA1 | p.Gly 1381 Glu | details | homologous mutations | 1 | 3 | 3 | D | D | D |
| CL3,NBD1 | p.Ile 1494 Thr | details | homologous mutations | 5 | 6 | 7 | D | D | ? |
| CL3,NBD1 | p.Arg 1514 His | details | homologous mutations | 4 | 8 | 9 | D | D | D |
| CL3,NBD1 | p.Ala 1527 Gly | details | homologous mutations | 1 | 2 | 2 | N | N | ? |
| CL3,NBD1 | p.Glu 1539 Lys | details | homologous mutations | 2 | 4 | 4 | D | D | D |
| CL3,NBD1 | p.Thr 1575 Pro | details | homologous mutations | 1 | 5 | 6 | D | D | ? |
| CL3 | p.Gly 1651 Ser | details | homologous mutations | 4 | 10 | 12 | D | D | D |
| CL3 | p.Trp 1744 * | details | homologous mutations | 1 | 1 | 1 | - | - | ? |
| TMD2,EL4 | p.Pro 1798 Leu | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
| TMD2,EL4 | p.Thr 1980 Lys | details | homologous mutations | 1 | 2 | 3 | D | N | ? |
| TMD2,EL6 | p.Phe 2144 Ser | details | homologous mutations | 1 | 7 | 8 | D | D | ? |
| CL6,NBD2 | p.Leu 2459 Arg | details | homologous mutations | 1 | 2 | 2 | D | D | ? |
| CL6,NBD2 | p.Arg 2479 Lys | details | homologous mutations | 1 | 13 | 16 | N | N | ? |