Table 3 of Mohanty, Mol Vis 2013; 19:78-84.


Table 3. LTBP2 mutations till date

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