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 |