Table 1. Disease-causing mutations in the spikes of retinoschisin.

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