Table 3. LTBP2 mutations/ polymorphisms previously reported in patients with primary congenital glaucoma from other populations.
| Exon | Sequence change | Amino acid change | SNP ID | Population | References |
|---|---|---|---|---|---|
| 1 | c.331C>T | p.Gln111X p. Pro319Gln | rs121918356 * | Pakistan/ Gypsy * | 8 * |
| 1 | c.412delG | p.Ala138ProfsX278 | N.A. | Pakistan/ Gypsy | 8, 23 |
| 4 | c.895C>T | p.Arg299X | rs121918355 | Pakistan, Roma / Gypsy | 8 |
| 4 | C>A | p.Pro319Gln | rs2304707 | American | 26 |
| 6 | c.1243–1256 del | p.Glu415ArgfsX596 | N.A. | Pakistan/ Gypsy | 8 |
| 6 | c.1287G>A | p.Leu429Leu | rs61738025 | Iranian | 9, 26 |
| Intron 6–7 | N.A. | g.75070493 | rs3742793 | North Indian | 24 |
| 7 | c.1415delC | p.Ser472fsX3 | N.A. | Iranian | 9 |
| 7 | G>T | p.Ser518Ile | N.A. | American | 26 |
| 7 | C>T | p.Arg548X | N.A. | American | 26 |
| 7 | C>T | p.Asn560Asn | N.A. | American | 26 |
| 14 | T>C | p.Thr802Thr | rs699374 | American | 26 |
| 15 | C>T | p.Thr834Thr | rs862031 | American | 26 |
| 17 | C>T | p.Arg905Arg | rs7145480 | American | 26 |
| 19 | c.2966C>G | p.Pro989Arg | rs76172717 | Iranian | 9 |
| 20 | C>T | p.Ser1031Ser | rs45473602 | American | 26 |
| 22 | G>A | p.Thr1111Thr | rs61729544 | American | 26 |
| 26 | C>T | p.Arg1284Arg | rs61736977 | American | 26 |
| 26 | G>A | p.Pro1297Pro | rs61738013 | American | 26 |
| 29 | G>A | p.Ala1421Ala | rs61738017 | American | 26 |
| 33 | c.4808G>A | p.Arg1603His | rs75200417 | Iranian | 9 |
| 36 | c.5376delC | p.Tyr1793fsX55 | N.A. | Iranian | 9 |
N.A., not avaiblable.