| Mutation . | XLRS . | Secreted . | Oligomerization . | Other . |
|---|---|---|---|---|
| Y89C | Mashima et al., 1999; Hayashi et al., 2004 | No (Wang et al., 2006) | Decreases phosphatidylserine binding (Vijayasarathy et al., 2007) | |
| G91C | Hu et al., 2017 | |||
| W92C | Hu et al., 2017 | No (Wang et al., 2006) | Decreases phosphatidylserine binding (Vijayasarathy et al., 2007) | |
| Y93C | Hu et al., 2017 | |||
| W96C | No (Vijayasarathy et al., 2010) | |||
| W96R | Sauer et al., 1997; Hiriyanna et al., 1999 | No (Wang et al., 2006) | ||
| F108C | Gehrig et al., 1999 | Yes (Wang et al., 2006) | 8 (Wang et al., 2006) | |
| R141A | Yes (Dyka and Molday, 2007) | 8 (Dyka and Molday, 2007) | Binds galactose (Dyka et al., 2008) | |
| R141C | The Retinoschisis Consortium, 1998 | No (Dyka and Molday, 2007) | ||
| R141E | No (Dyka and Molday, 2007) | |||
| R141G | The Retinoschisis Consortium, 1998 | No/Little (Wang et al., 2002; Dyka and Molday, 2007) | 8 (Wang et al., 2006) | |
| R141H | The Retinoschisis Consortium, 1998; Park et al., 2000; this study | Yes (Wang et al., 2006; Dyka and Molday, 2007) | 8 (Wang et al., 2006; Dyka and Molday, 2007) | Binds galactose (Dyka et al., 2008) |
| R141K | No (Dyka and Molday, 2007) | |||
| R141Q | No (Dyka and Molday, 2007) | |||
| R141S | Yes (Dyka and Molday, 2007) | 8 (Dyka and Molday, 2007) | Does not bind galactose (Dyka et al., 2008) | |
| R141V | No (Dyka and Molday, 2007) | |||
| D143V | The Retinoschisis Consortium, 1998 | No (Wang et al., 2006) | ||
| D145H | Ma et al., 2008 | |||
| H207Q | The Retinoschisis Consortium, 1998 | Yes (Wang et al., 2006) | 8 (Wang et al., 2006) | |
| R209C | The Retinoschisis Consortium, 1998; Hu et al., 2017 | |||
| R209H | Sauer et al., 1997; The Retinoschisis Consortium, 1998; Ma et al., 2008; Hu et al., 2017 | Yes (Wang et al., 2006) | 8 (Wang et al., 2006) | |
| R209L | Skorczyk and Krawczyński, 2012 |
| Mutation . | XLRS . | Secreted . | Oligomerization . | Other . |
|---|---|---|---|---|
| Y89C | Mashima et al., 1999; Hayashi et al., 2004 | No (Wang et al., 2006) | Decreases phosphatidylserine binding (Vijayasarathy et al., 2007) | |
| G91C | Hu et al., 2017 | |||
| W92C | Hu et al., 2017 | No (Wang et al., 2006) | Decreases phosphatidylserine binding (Vijayasarathy et al., 2007) | |
| Y93C | Hu et al., 2017 | |||
| W96C | No (Vijayasarathy et al., 2010) | |||
| W96R | Sauer et al., 1997; Hiriyanna et al., 1999 | No (Wang et al., 2006) | ||
| F108C | Gehrig et al., 1999 | Yes (Wang et al., 2006) | 8 (Wang et al., 2006) | |
| R141A | Yes (Dyka and Molday, 2007) | 8 (Dyka and Molday, 2007) | Binds galactose (Dyka et al., 2008) | |
| R141C | The Retinoschisis Consortium, 1998 | No (Dyka and Molday, 2007) | ||
| R141E | No (Dyka and Molday, 2007) | |||
| R141G | The Retinoschisis Consortium, 1998 | No/Little (Wang et al., 2002; Dyka and Molday, 2007) | 8 (Wang et al., 2006) | |
| R141H | The Retinoschisis Consortium, 1998; Park et al., 2000; this study | Yes (Wang et al., 2006; Dyka and Molday, 2007) | 8 (Wang et al., 2006; Dyka and Molday, 2007) | Binds galactose (Dyka et al., 2008) |
| R141K | No (Dyka and Molday, 2007) | |||
| R141Q | No (Dyka and Molday, 2007) | |||
| R141S | Yes (Dyka and Molday, 2007) | 8 (Dyka and Molday, 2007) | Does not bind galactose (Dyka et al., 2008) | |
| R141V | No (Dyka and Molday, 2007) | |||
| D143V | The Retinoschisis Consortium, 1998 | No (Wang et al., 2006) | ||
| D145H | Ma et al., 2008 | |||
| H207Q | The Retinoschisis Consortium, 1998 | Yes (Wang et al., 2006) | 8 (Wang et al., 2006) | |
| R209C | The Retinoschisis Consortium, 1998; Hu et al., 2017 | |||
| R209H | Sauer et al., 1997; The Retinoschisis Consortium, 1998; Ma et al., 2008; Hu et al., 2017 | Yes (Wang et al., 2006) | 8 (Wang et al., 2006) | |
| R209L | Skorczyk and Krawczyński, 2012 |