Table 3 of Bowne, Mol Vis 2003; 9:129-137.


Table 3. Nonpathogenic RP1L1 variants

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.

 Nucleotide     Codon          Protein
   change       change          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

Bowne, Mol Vis 2003; 9:129-137 <http://www.molvis.org/molvis/v9/a19/>
©2003 Molecular Vision <http://www.molvis.org/molvis/>
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