Molecular Vision: Manes, Mol Vis 2017; 23:198-209. Table 1

Table 1. Summary of GUCA1A gene known and novel mutations.

Nucleotide change	Exon	Protein change	Region	ExAC	PPhen2 HDIV	PPhen2 HVAR	SIFT	Prov	Mut. taster	Clin.	Ref.
c.149C>T	3	p.Pro50Leu	EF1-EF2 link	121/121,374	BEN	BEN	TOL	DEL	DIS	COD, CORD	[29]
c.250C>T	4	p.Leu84Phe	EF2 helix F	0	PRO	PRO	DAM	DEL	DIS	COD, CORD, MD	[36]
c.265G>A	4	p.Glu89Lys	EF2-EF3 link	0	POS	BEN	DAM	DEL	DIS	COD, MD	[27]
c.296A>G	4	p.Tyr99Cys	EF3 helix E	0	PRO	PRO	DAM	DEL	DIS	COD, CORD, MD	[33,37]
c.299A>G	4	p.Asp100Gly	EF3 loop, Ca²⁺ binding	0	PRO	PRO	DAM	DEL	DIS	CORD, MD	[38]
c.300T>A	4	p.Asp100Glu	EF3 loop, Ca²⁺ binding	0	PRO	PRO	DAM	DEL	DIS	COD	[27]
c.302_304delTAG	4	p.Val101del	EF3 loop	0	N.A.	N.A.	N.A.	DEL	DIS	MD	Present study
c.304G>C	4	p.Asp102His	EF3 loop, Ca²⁺ binding	0	PRO	PRO	DAM	DEL	DIS	CORD	[41]
c.312C>A	4	p.Asn104Lys	EF3 loop, Ca²⁺ binding	0	PRO	POS	DAM	DEL	DIS	COD	[42]
c.320T>C	4	p.Ile107Thr	EF3 loop	0	PRO	PRO	DAM	DEL	DIS	COD, CORD, MD	[36]
c.341C>T	4	p.Thr114Ile	EF3 helix F	5/121,228	BEN	BEN	TOL	NEU	POL	Atypical RP	[30]
c.428delTinsACAC	5	p.Ile143delinsAsnThr	EF4 helix E	0	N.A.	N.A.	N.A.	DEL	POL	COD	[30]
c.444T>A	5	p.Asp148Glu	EF4 loop	0	POS	POS	TOL	DEL	DIS	COD	Present study
c.451C>T	6	p.Leu151Phe	EF4 loop	0	PRO	PRO	DAM	DEL	DIS	COD	[27,34]
c.464A>G	6	p.Glu155Gly	EF4 loop, Ca²⁺ binding	0	PRO	PRO	DAM	DEL	DIS	COD	[35]
c.464A>C	6	p.Glu155Ala	EF4 loop, Ca²⁺ binding	0	PRO	PRO	DAM	DEL	DIS	CORD	[43]
c.476G>T	6	p.Gly159Val	EF4 helix F	0	PRO	PRO	DAM	DEL	DIS	COD, CORD	[27]
c.526C>T	6	p.Leu176Phe	C-ter	0	PRO	PRO	TOL	NEU	DIS	MD	[39]

EF, helix E - loop - helix F; Ca²⁺-binding domain; C-ter, carboxy terminal; ExAC, Exome Aggregation Consortium; COD, cone dystrophy; CORD, cone-rod dystrophy; MD, macular dystrophy; PPhen2, PolyPhen2, POS for possibly damaging, PRO for probably damaging, BEN for benign; SIFT, TOL for tolerated, DAM for damaging Prov; PROVEAN (Prediction with cutoff= -2.5), DEL for deleterious, NEU for neutral; Mut. taster, Mutation taster, POL for Polymorphism and DIS for Disease Causing; N.A., Not applicable; Clin, clinical diagnosis; Ref, reference.s