Table 2 of Bowne, Mol Vis 2003; 9:129-137.

Table 2. Silent and non-coding sequence variants found in RP1L1

Ten nucleotide substitutions which do not alter the RP1L1 protein sequence were identified in the 60 adRP probands. Because they do not appear to affect the protein, these changes are not likely to be pathogenic. Numbering is based on GenBank entry AY168341. Frequencies are based on the testing of 60 individuals with adRP.

Nucleotide    Codon      Protein
  change      change      change     Frequency
----------   --------   ----------   ---------
32G->A       CCG->CCA   Pro11Pro       0.01
501A->G      ACA->ACG   Thr167Thr      0.02
609-13G->A   None       (intronic)     0.15
1791T->C     GGT->GGC   Gly597Gly      0.19
1842C->A     GGC->GGA   Gly614Gly      0.01
2238G->A     TCG->TCA   Ser746Ser      0.01
2268C->T     AAC->AAT   Asn756Asn      0.10
2316G->A     TCG->TCA   Ser772Ser      0.17
3405T->G     CCT->CCG   Pro1135Pro     0.03
4440G->A     CCG->CCA   Pro1480Pro     0.01

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