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. Author manuscript; available in PMC: 2008 Nov 6.
Published in final edited form as: Mol Vis. 2003 Apr 24;9:129–137.

Table 2.

Silent and non-coding sequence variants found in RP1L1

Nucleotide
change
 Codon
change
 Protein
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

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.