TABLE 2C.

Summary of RP1 Mutations Identified in Families With Retinitis Pigmentosa

Diagnosis	Mutation/predicted consequence	Family identifier	cDNAa	Reference
ad RP	Arg677Ter	RFS137, UTAD103	2029C>T, CGA→TGA	Sullivan et al. [1999]; Pierce et al. [1999]; Bowne et al. [1999]
ad RP	Gly723Ter	UTAD411	2167G>T, GGA→TGA	Grimsby et al. [2000]
ad RP	Frameshift after Ile725	UTAD309	2169-2170insG	Bowne et al. [1999]
ad RP	Frameshift after Leu762	3 Familiesb	2285-2289del	Pierce et al. [1999]; Bowne et al. [1999]
ad RP	Frameshift after Gly723	RFS103	2303del	Bowne et al. [1999]

^acDNA sequence numbering, counting the first nucleotide of the first codon as 1. None of these mutations were identified in 50 unaffected control individuals.

^bUTAD029, UTAD039, UTAD351.