Table 3 of
Rauf, Mol Vis 2020; 26:14-25. Table 3 of
Rauf, Mol Vis 2020; 26:14-25.
Table 3. A list of previously reported pathogenic mutations in LTBP2 responsible for primary congenital glaucoma.
| Nucleotide Change | Protein Change | Exon of LTBP2 | Mutation | Ethnicity | Reference |
|---|---|---|---|---|---|
| c.331C>T | p.Gln111* | 1 | Nonsense | Pakistani | [20] |
| c.412delG | p.Ala138Profs*278 | 1 | Deletion | Pakistani | [20] |
| c.895C>T | p.Arg299* | 4 | Nonsense | Gypsy | [20] |
| c.1243_1256del14 | p.Glu415Argfs*596 | 6 | Deletion | Pakistani | [20] |
| c.1415delC | p.Ser472fs*3 | 7 | Deletion | Iranian | [22] |
| c.2421G>A | p.Trp807* | 14 | Nonsense | Indian | [29] |
| c.4031InsA | p.Asp1345Glyfs*6 | 27 | Insertion | Pakistani | [28] |
| c.4934G>A | p.Arg1645Glu | 34 | Missense | Pakistani | [28] |
| c.5376delC | p.Tyr1793fs*55 | 36 | Deletion | Iranian | [22] |