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

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

S. No.


Genomic location

Nucleotide change

Codon change

Type of mutation

in protein

Observational history
of mutations in
different diseases

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]