Molecular Vision: Seong, Mol Vis 2008; 14:1429-1436. Table 1

Table 1. Characterization of mutations and novel unclassified variants identified in this study

Case #	Gene	Mutation	Characterization of variant	Frequency in control	Amino acid conservation	Domain	In-silico analysis
Case #	Gene	Mutation	Characterization of variant	Frequency in control	Amino acid conservation	Domain	Polyphen	SIFT	PMut
5	RPE65	c.271C>T (R91W)*	Missense/Pathogenic
		c.858+1G>T (IVS8+1G>T)*	Splicing/Pathogenic
11	RPGRIP1	c.1295C>T (S432F)	Missense/Unclassified	0.003	Some species	Coiled coil region	Damaging	Not tolerated	Pathological
6	RPGRIP1	c.1802C>G (S601W)	Missense/Unclassified	<0.01	Some species	C2 domain	Damaging	Not tolerated	Pathological
13	RPGRIP1	c.1892A>T (H631P)	Missense/Pathogenic	<0.01	Well conserved	C2 domain	Damaging	Tolerated	Pathological
		c.3560_3566delAAGGCCG	Frameshift/Pathogenic
12	RPGRIP1	c.3170A>T (H1057L)	Missense/Unclassified	0.006	Some species	RPGR interacting domain	Damaging	Tolerated	Pathological
17	CRB1	c.998G>A (G333D)	Missense/Pathogenic	<0.01	Well conserved	EGF-like domain	Damaging	Not tolerated	Neutral
		c.1576C>T (R526X)	Nonsense/Pathogenic

Mutations and novel unclassified variants are presented. The asterisk indicates that this has been previously reported elsewhere as a pathologic mutation. The sequence variations without the asterisk are novel ones with further analyses supporting or excluding pathogenicity including frequency in normal control, amino acid conservation and in-silico prediction using softwares. We classified H631P in RPGRIP1 and G333D in CRB1 among five missense variants as pathogenic mutations, but other missense ones as unclassified variants.