RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

Table 1

The rare variants found in the two Japanese families with RHO mutations, focusing on 212 retinal disease-causing genes registered in the RetNet database (https://sph.uth.edu/retnet/).

JU0678-062JIKEI		Gene	Gene Bank ID	Exon	Nucleotide change	AA change	State	SNP ID
Chrom	Position
2	202498104	TMEM237	NM_001044385	5	c.325C>T	p.R109X	Hetero
3	129249734	RHO	NM_000539	2	c.377G>T	p.W126L	Hetero
4	6290790	WFS1	NM_006005	4	c.392T>G	p.V131G	Hetero
4	6302786	WFS1	NM_006005	8	c.1264G>T	p.A422S	Hetero
7	33427676	BBS9	NM_198428	19	c.2035C>T	p.R679W	Hetero
8	10480476	RP1L1	NM_178857	2	c.236G>A	p.R79H	Hetero
14	21792816	RPGRIP1	NM_020366	14	c.1802C>T	p.S601L	Hetero	rs3748360
16	49670817	ZNF423	NM_015069	4	c.2243_2245del	p.748_749del	Hetero
JU0575-037JIKEI		Gene	Gene Bank ID	Exon	Nucleotide change	AA change	State	SNP ID
Chrom	Position
1	94476477	ABCA4	NM_000350	40	c.5593C>T	p.H1865Y	Hetero	rs201707267
2	112751865	MERTK	NM_006343	9	c.1334G>A	p.R445Q	Hetero	rs202242962
3	129252550	RHO	NM_000539	5	c.1036G>C	p.A346P	Hetero
11	17531103	USH1C	NM_153676	18	c.1813A>C	p.I605L	Hetero
16	16291933	ABCC6	NM_001171	10	c.1283A>G	p.N428S	Hetero	rs201880691

Chrom = choromosome, AA = amino acid, Homo = homozygous, and Hetero = heterozygous.