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 |