Molecular Vision: Kanda, Mol Vis 2009; 15:2174-2184. Table 2

Table 2. A summary of effects of variants on NR2E3 function

Proband diagnosis	Nucleotide change*	Amino acid change*	Alleles	Reference	IB	Subcellular localization	Binding to Kni x2	Rho-p Luc with NRL+CRX)	Interaction (NRL/CRX)	Effect
-	Wild type	-	-	-	+	Nuc	+	+	+/+	-
ADRP	c.166G>A	p.G56R	p.G56R/+	19	No change	Nuc	Down	Down	Similar/Down	Mut
ESCS/GFS	c.194_202del9	p.N65_C67del	c.IVS1–2A>C/p.N65_C67del	9	No change	Nuc	Down	Down	Similar/Down	Mut
ESCS	c.225G>A	p.R76Q	p.R76Q/+	9	No change	Nuc, Cyt	Down	Down	Similar/Similar	Mut
ESCS	c.226C>T	p.R76W	p.R76W/+	9	No change	Nuc, Cyt	Down	Down	Similar/Similar	Mut
ESCS	c.263G>T	p.G88V	p.G88V/p.G88V	16	No change	Nuc	Down	Down	Similar/Similar	Mut
ESCS	c.290G>A	p.R97H	p.R97H/p.R97H	9	No change	Nuc, Cyt	Down	Down	Similar/Down	Mut
ESCS	c.311G>A	p.R104Q	p.R104Q/p.R334G	17	No change	Nuc	Down	Down	Similar/Down	Mut
ESCS	c.310C>T	p.R104W	c.IVS1–2A>C/p.R104W	9	No change	Nuc	Down	Down	ND	Mut
ESCS	c.361G>A	p.E121K	p.E121K/+	9	No change	Nuc	Similar	Similar	Similar/Down	Unc
BBS/RP	c.419G>A	p.E140G	p.E140G/+	9	No change	Nuc	Similar	Similar	ND	Var
BBS/RP	c.488T>C	p.M163T	p.M163T/+	9	No change	Nuc	Similar	Similar	ND	Var
BBS/RP	c.694G>A	p.V232I	p.V232I/+	9	No change	Nuc	Down	Similar	Down/Similar	Var
ESCS	c.701G>C	p.W234S	p.W234S/+	9	No change	Nuc, Cyt	Down	Down	Down/Similar	Mut
CPRD	c.767C>A	p.A256E	c.IVS1–2A>C/p.A256E	14	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
ESCS	c.788T>C	p.L263P	c.IVS1–2A>C/p.L263P	16	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
CPRD	c.827_843del17	p.P276fs	c.IVS1–2A>C/p.P276fs	14	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
BBS/RP	c.904G>A	p.V302I	p.V302I/+	9	No change	Nuc	Down	Down	Down/Down	Unc
ESCS	c.925C>G	p.R309G	p.R309G/p.R311Q	9	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
ESCS	c.932G>A	p.R311Q	p.R311Q/p.R311Q	9	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
ESCS	c.1000C>G	p.R334G	p.R104Q/p.R334G	17	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
ESCS	c.1007T>C	p.L336P	c.IVS1–2A>C/p.L336P	16	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
ESCS	c.1048C>T	p.Q350X	p.Q350X/p.Q350X	15	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
ESCS	c.1057G>A	p.L353V	c.481delA/p.L353V	16	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
ESCS	c.1154G>C	p.R385P	p.R385P/+	9	No change	Nuc, Cyt	Down	Down	Down/Down	Mut
ESCS	c.1220T>A	p.M407K	p.M407K/p.M407K	9	No change	Nuc, Cyt	Similar	Down	Down/Down	Mut

The results of nuclear localization, EMSA, luciferase assays and immunoprecipitations for each mutation are summarized in this table. Each alteration is categorized as a mutation, variation or change of uncertain significance based on the experiments reported in this study. Abbreviations: retinitis pigmentosa (RP), autosomal dominant RP (ADRP), Bardet-Biedl syndrome (BBS), clumped pigmentary retinal dystrophy (CPRD), enhanced S-cone syndrome (ESCS), Goldmann-Favre syndrome (GFS), mutation (Mut), no data (ND), cytoplasm (Cyt), nuclear (Nuc), uncertain significance (Unc), variation (Var), rhodopsin promoter driving luciferase (Rho-p Luc). *The mutation nomenclature uses the first nucleotide of the ATG codon in the cDNA (NM_014249.2) as +1, and the first codon of the protein as +1 (NM_014249.2).