Molecular Vision: Tanwar, Mol Vis 2009; 15:2926-2937. Table 3

Table 3. Summary of the sequence variants identified in various studies till date.

S. No.	Patient number	Genomic location	Nucleotide change	Codon change	Type of mutation	Location in protein	Mutation identified	Observational history of mutations in different diseases	Origin (reference)
1	P51, P53, P55, P58-P65, P71, P72, P73	g.38302544	C>T	NA	Intronic	NA	NA	PCG	India, Saudia Arabia, Oman, Brazil [7,13,35,36]
2	P51, P53, P54, P57-P61, P63-P65, P71-P73	g.38302390	c.142 C>G	CGG>GGG	Missense	48	p.arg48 gly (p.R48G)	PCG	Saudia Arabia, India, Japan [8,11,15]
3	P55	g.38302285	c.247del. G	FS	FS	FS after 82	p.asp83thrfsX12 (p.I94X)	PCG	This study
4	P55, P73	g.38302177	c.355G>T	GCC>TCC	Missense	119	p.ala119ser (p.A119S)	PCG	Saudia Arabia, Japan, India [7,11,15]
5	P65	g.38301847	c.685G> A	GAA>AAA	Missense	229	p.glu229lys (p.E229K)	PCG, POAG	France, India, Germany [7,29,31]
6	P61	g.38301697	c.835C>G	CAC>GAC	Missense	279	p.his279asp (p.H279D)	PCG	This study
7	P56	g.38301512	c.1020G>T	CAG>CAT	Missense	340	p.gln340his (p.Q340H)	PCG	This study
8	P70	g.38298434	c.1063C>T	GGA>TGA	Non-sense	355	p.ala355stop (p.A355X)	PCG	Germany, India [28] this study
9	P68	g.38298394	c.1103G>A	CGT>CAT	Missense	368	p.arg368his (p.R368H)	PCG, PA, POAG	Saudia Arabia, India. France [7,15,32]
10	P64	g.39298329	c.1168C>T	CGC>TGC	Missense	390	p.arg390cys (p.R390C)	PCG	Ecuador, India [8,37]
11	P56	g.38298328	c.1169G>A	CGC>CAC	Missense	390	p.arg390his (p.R390H)	PCG, POAG	Pakistan, India, France [7,21,32]
12	P52, P55, P68, P69	g.38298203	c.1294C>G	CTG>GTG	Missense	432	p.leu432lys (p.L432V)	PCG, PA	India, Japan, Turkey [7,11,29]
13	P69	g.38298198	c.1299G>A	AAG>AAA	Neutral	433	p.lys433lys (p.K433K)	PCG	This study
14	P51, P53-P67, P69-P71, P73	g.38298350	c.1347T>C	GAT>GAC	Neutral	449	p.asp449asp (p.D449D)	PCG	Japan, India [7,11]
15	P56, P67	g.38298139	c.1358A>G	AAC>AGC	Missense	453	p.asp453ser (p.N453S)	PCG	France, India [7,12]