Table 3.

Nonpathogenic RP1L1 variants

Nucleotide change	Codon change	Protein change	Frequency
130C->G	CCA->GCA	Pro44Ala	0.02
335C->G	ACC->AGC	Thr112Ser	0.03
407G->A	CGT->CAT	Arg136His	0.01
1460C->T	GCC->GTC	Ala487Val	0.01
2375C->T	CCG->CTG	Pro792Leu	0.44
2578C->T	CGG->TGG	Arg860Trp	0.10
3436T->C	TGG->CGG	Trp1146Arg	0.31
4448C->T	GCC->GTC	Ala1483Val	0.10
4484C->G	CCC->CGC	Pro1495Arg	0.24
5126C->T	GCC->GTC	Ala1709Val	0.45
5447G->A	GGT->GAT	Gly1816Asp	0.02
5584_5604del		Glu1862_Gln1868del	0.10
5666A->T	GAT->GTT	Asp1889Val	0.19
5860G->A	GCC->ACC	Ala1954Thr	0.37
6209A->T	GAG->GTG	Gly2070Val	0.17
6264G->T	CAG->CAT	Gln2088His	0.19
6418G->A	GAG->AAG	Glu2140Lys	0.17
6511A->G	AAG->GAG	Lys2171Glu	0.48
6596C->T	CCA->CTA	Pro2199Leu	0.11
6725G->A	GGA->GAA	Gly2242Glu	0.48
6853G->A	GGA->AGA	Gly2285Arg	0.29
7004A->G	CAT->CGT	His2335Arg	0.08

Twenty-two variants within the RP1L1 coding region which alter the protein sequence were identified in the 60 adRP probands. Each of these variants was found in at least one unaffected control individual and therefore, each is believed to be nonpathogenic. Numbering is based on GenBank entry AY168341. Frequencies are based on the testing of 60 individuals with adRP. Each variant was found in at least one unaffected control individual and therefore, each is believed to be nonpathogenic.