Table 1

 Summary of autosomal dominant retinitis pigmentosa mutations identified

GeneNucleotide changeAmino acid changeType of mutationExonNumber of familiesRelative frequency
RP1 2029C→TR677XNonsense424.6%
RHO 403C→TR135WMissense249.3%
1040C→TP347LMissense524.6%
499T→CC167R212.3%
NRL 152C→TP51LMissense212.3%
CRX 458delCP153fsFrameshift312.3%
PRPF8 6901C→TP2301SMissense4212.3%