Table 1.
Disease-causing mutations in SCARB2
| Disease Association(s) | Mutation | Type | Reference |
|---|---|---|---|
| AMRF; PME | Q288X c.862C>T |
Nonsense |
Blanz et al. 2010; Dibbens et al. 2011; Berkovic et al. 2008 |
| AMRF; PME | W178X c.533G>A |
Nonsense |
Blanz et al. 2010; Balreira et al. 2008 |
| PME; AMRF | H363N c.1087C>A |
Missense |
Dardis et al. 2009; Dibbens et al. 2009; Blanz et al. 2010 |
| PME and GD type 3 | Q471G c.1412A>G |
Missense | Velayati et al. 2011 |
| PME | c. 1116-2A>C | Splice-site mutation | Dibbens et al. 2009 |
| PME | c. 704+1G>C | Splice-site mutation | Dibbens et al. 2009 |
| PME | E420RfsX5 c. 1258delG |
Frameshift | Dibbens et al. 2009 |
| PME | Y222X c.666delCCTTA |
Nonsense |
Dibbens et al. 2009 Hopfner et al. 2011 |
| PME | c. 424-2A>C | Splice-site mutation | Dibbens et al. 2009 |
| AMRF | c.1239+1G>T | Splice-site mutation; premature truncation |
Berkovic et al. 2008 |
| AMRF | W146SfsX16 c.435_436insAG |
Frameshift |
Berkovic et al. 2008; Blanz et al. 2010 |
| AMRF | N99IfsX34 c. 296 delA |
Frameshift | Berkovic et al. 2008 |
| PME | c.1187 + 3insT | Splice-site mutation | Dibbens et al. 2011 |
| AMRF | c.111delC | Deletion; frameshift | Hopfner et al. 2011 |