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. Author manuscript; available in PMC: 2006 Jun 12.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3863–3870. doi: 10.1167/iovs.04-0590

TABLE 4.

Sequence Variants Identified in GCAP2 Gene

Rare Variants
Protein	Nucleotide	Patient	Diagnosis
V85M	c.253G>A	038-114	Atypical RP
N106N	c.318T>C	001-473	Dominant RP
None	g.IVS3+22delA	115-018	Cone dysfunction
None	g.IVS3+22delA	001-051	Dominant RP
None	g.IVS3+65G>A	001-245	Dominant RP
F150C	c.449T>G	003-059	Recessive RP
Polymorphisms
Protein	Nucleotide		Allele Frequency^* (hom/het/hom)
Y57Y	c.171T>C		56/206/159
None	g.IVS2+81C>T		299/83/8
E155D^†	c.465G>T		410/11/0
None	g.IVS2-74 G>A		9/96/280
None	g.IVS3+8G>A		402/15/0
None^†	g.IVS3-30A>G		389/11/0

^*

Some patients were not included in the analysis of some poly-morphisms.

^†

Reported in Reference ²⁷.