Molecular Vision: Tang, Mol Vis 2019; 25:921-933. Table 1

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

Nucleotide change	protein change	Region	Type	PolyPhen2	SIFT	PROVEAN	Mutation taster	Diagnosis
c.149C>T	p.Pro50Leu	EF1-EF2 link	Missense	BEN	DEL	DEL	DIS	COD, CORD
c.250C>T	p.Leu84Phe	EF2helix F	Missense	PRO	TOL	DEL	DIS	MD
c.256G>C	p.Gly86Arg	EF2-EF3 hinge	Missense	PRO	DEL	DEL	DIS	MD
c.265G>A	p.Glu89Lys	EF2-EF3 link	Missense	POS	DEL	DEL	DIS	COD
c.296A>G	p.Tyr99Cys	EF3 helix E	Missense	PRO	DEL	DEL	DIS	COD
c.299A>G	p.Asp100Gly	EF3 loop, Ca²⁺binding	Missense	PRO	DEL	DEL	DIS	CORD, MD
c.300T>A	p.Asp100Glu	EF3 loop, Ca²⁺binding	Missense	PRO	DEL	DEL	DIS	COD, CORD
c.302_304delTAG	p.Val101del	EF3 loop	Indel	N.A	N.A.	DEL	DIS	MD
c.304G>C	p.Asp102His	EF3 loop, Ca²⁺binding	Missense	PRO	DEL	DEL	DIS	CORD
c.312C>A	p.Asn104Lys	EF3 loop, Ca²⁺binding	Missense	PRO	DEL	DEL	DIS	COD
c.320T>C	p.Ile107Thr	EF3 loop	Missense	PRO	DEL	DEL	DIS	MD
c.332A>T	p.Glu111Val	EF3 loop, Ca²⁺binding	Missense	BEN	DEL	DEL	DIS	CORD
c.341C>T	p.Thr114Ile	EF3 helix F	Missense	BEN	DEL	NEU	POL	P.U.
c.359–360delTT	p.Arg120Leu	EF3 loop, Ca²⁺binding	Missense	N.A.	N.A.	NEU	DIS	CACD
c.428delTinsACAC	p.Ile143delinsAsnThr	EF4 helix E	Delins/Indel	N.A.	N.A.	DEL	POL	COD
c.431A>G	p.Asp144Gly	EF4 loop, Ca²⁺binding	Missense	PRO	DEL	DEL	DIS	This study
c.444T>A	p.Asp148Glu	EF4 loop, Ca²⁺binding	Missense	PRO	TOL	DEL	DIS	COD
c.451C>T	p.Leu151Phe	EF4 loop Ca²⁺binding	Missense	PRO	DEL	DEL	DIS	COD, CORD
c.464A>G	p.Glu151Gly	EF4 loop, Ca²⁺binding	Missense	PRO	DEL	DEL	DIS	COD
c.464A>C	p.Glu155Ala	EF4 loop, Ca²⁺binding	Missense	PRO	DEL	DEL	DIS	COD
c.476G>T	p.Gly159Val	EF4 helix F	Missense	PRO	DEL	DEL	DIS	COD, CORD
c.526C>T	p.Leu176Phe	Carboxy terminal	Missense	PRO	TOL	NEU	DIS	MD