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

Table 1

Mutation prediction for known and novel GUCA1A variations.

Mutation	Domain	PolyPhen-2^a		PSIPRED^b	Dystrophy	Reference
		Prediction	Human var score	Protein secondary structure change
P50L		Benign	0.132	Yes	Cone, rod-cone	[3]
L84F		PRD	0.999	No	Cone, cone-rod, macular	Novel
E89K	EF3	PSD	0.681	Yes	Cone	[4]
Y99C	EF3	PRD	1.000	Yes	Cone, cone-rod, macular	[5, 6]
D100E	EF3	PRD	0.999	Yes	Cone	[4]
N104K	EF3	PRD	0.998	Yes	Cone	[7]
I107T	EF3	PRD	1.000	Yes	Cone, cone-rod, macular	Novel
T114I	EF3	Benign	0.009	Yes	Atypical RP	[8]
I143NT	EF4	NP	—	Yes	Cone	[8]
L151F	EF4	PRD	1.000	Yes	Cone-rod	[9, 10]
E155G	EF4	PRD	1.000	Yes	Cone	[11]
G159V	EF4	PRD	1.000	Yes	Cone	[4]

aPolyPhen-2 appraises mutations qualitatively as benign, possibly damaging (POS), or probably damaging (PRD) based on the model’s false positive rate. NP: not performed.
^bPSIPRED was used for secondary structure prediction, and the number of the resulting alterations is given in the table. For PSIPRED analysis, any predicted changes in protein secondary structure were considered to be damaging mutations.