Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

Table 5

In silico analysis for novel missense mutations.

Gene	Protein variant	DNA variant	Prediction; for damage
CRX	p.R40W	c.118C>T	4 of 4
EYS	p.K4E	c.10A>G	2 of 4
EYS	p.R26Q	c.77G>A	2 of 4
EYS	p.M12T	c.35T>C	2 of 4
EYS	p.E47D	c.141A>T	3 of 4
EYS	p.Q76H	c.228G>C	2 of 4
EYS	p.C211Y	c.632G>A	4 of 4
EYS	p.I256M	c.768A>G	2 of 4
EYS	p.G484R	c.1450G>A	3 of 4
EYS	p.N1205T	c.3614A>C	2 of 4
EYS	p.K1633E	c.4897A>G	2 of 4
EYS	p.L1655M	c.4963 T>A	2 of 4
EYS	p.L1802F	c.5404C>T	2 of 4
EYS	p.G2186E	c.6557G>A	2 of 4
EYS	p.I2188T	c.6563T>C	1 of 4
EYS	p.R2604C	c.7810C>T	2 of 4
EYS	p.T2683I	c.8048C>T	0 of 4
EYS	p.D2767H	c.8299G>C	3 of 4
EYS	p.L2784R	c.8351T>G	2 of 4
EYS	p.I3091T	c.9272T>C	2 of 4
PROM1	p.N580H	c.1738A>C	3 of 4
RDS	p.K15R	c.44A>G	1 of 3
RDS	p.A116S	c.346G>T	0 of 4
RDS	p.K154Q	c.460A>C	0 of 4
RHO	p.G101E	c.302G>A	4 of 4

Bold indicates in silico analysis indicates pathogenic higher than 50% rates.