Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

Table 4

ESEfinder 3.0 analyses of the wild-type and c.250C>T mutant exon 4 of GUCA1A.

Splicing factor mutation	SF2/ASF threshold = 1.956			SC35 threshold = 2.383
	Position (nt)^a	Motif	Score	Position (nt)^a	Motif	Score
Wild type	49	CTCAAGG	2.216	45	GGTCCTCA	3.059
				46	GTCCTCAA	3.572
GUCA1A-L84F	49	—	—	45	—	—
				46	GTCTTCAA	3.341

aPosition of the first nucleotide of an ESE motif counted from the 5′ boundary of exon 4 of GUCA1A.