Table 3 of Mohanty, Mol Vis 2013; 19:78-84.
S. No. | Nucleotide Change | Amino acid change | Exon | Ethnicity | Ref/refSNP | Phenotype |
---|---|---|---|---|---|---|
1 | G→A | pGln111X | Exon1 | Pakistani | [12]; rs121918356 | PCG |
2 | C→T | p.R299X | Exon4 | Gypsy | [12]; rs121918355 | PCG |
3 | dupC | p.Val600GlyfsX2 | Exon9 | Moroccan | [27] | Secondary Glaucoma |
4 | delG | p.A138PfsX278 | Exon1 | Pakistani | [12] | PCG |
5 | delC | p.Tyr1793fsX55 | Exon36 | Iranian | [15] | PCG |
6 | delC | p.Ser472fsX3 | Exon7 | Iranian | [15] | PCG |
7 | G→A | p.Leu429Leu | Exon 6 | Iranian | [15]; rs61738025 | PCG |
8 | c.5446dupC | p.H1816PfsX28 | Exon36 | South Indian | [28] | Microspherophakia |
9 | c.1012delT | p.S338fsX4 | Exon 4 | Saudi | [29] | Secondary Glaucoma |
10 | C→G | p.Pro989Arg | Exon19 | Iranian | [15]; rs76172717 | PCG |
11 | G→A | p.Arg1603His | Exon33 | Iranian | [15]; rs75200417 | PCG |
12 | c.4855C>T | p.Q1619X | Exon33 | Saudi | [29] | Secondary Glaucoma |
13 | c.4313G>A | p.C1438Y | Exon29 | Saudi | [29] | Secondary Glaucoma |
14 | C→G | g.75070493 | Intronic (6–7) | North Indian | Current study (rs3742793) | PCG |