Table 3 of Wang, Mol Vis 2009; 15:2813-2820. Table 3 of Wang, Mol Vis 2009; 15:2813-2820.
Table 3. Summary of identified mutations in GJA8.
Mutation |
Amino acid change |
Location |
Cataract type |
Origin of family |
Reference |
|---|---|---|---|---|---|
| 68G>C | R23T | NH2-terminus | Progressive dense nuclear | Iranian | [27] |
| 92T>C | I31T | First transmembrane domain (M1) | Nuclear cataract | Chinese | Present study |
| 131T>A | V44E | First transmembrane domain (M1) | Cataract and microcornea | Indian | [28] |
| 134G>C | W45S | First transmembrane domain (M1) | Jellyfish-like cataract and microcornea | Indian | [29] |
| 139G>A | D47N | First extracellular loop (E1) | Nuclear pulverulent cataract | English | [30] |
| 139G>T | D47Y | First extracellular loop (E1) | Nuclear cataract | Chinese | [31] |
| 142G>A | E48K | First extracellular loop (E1) | Zonular nuclear pulverulent | Pakistani | [32] |
| 191T>G | V64G | First extracellular loop (E1) | Nuclear cataract | Chinese | [33] |
| 235G>C | V79L | Second transmembrane domain (M2) | Full moon like with Y-sutural opacities | Indian | [34] |
| 262C>T | P88S | Second transmembrane domain (M2) | Zonular pulverulent | English | [16] |
| 262C>A | P88Q | Second transmembrane domain (M2) | Lamellar pulverulent | English | [35] |
| 262C>A | P88Q | Second transmembrane domain (M2) | “Balloon-like”cataract with Y-sutural opacities | Indian | [36] |
| 565C>T | P189L | Second transmembrane domain (M2) | Nuclear cataract and microcornea | Danish | [37] |
| 593G>A | R198Q | Second transmembrane domain (M2) | Posterior subcapsular cataract and microcornea | Indian | [28] |
| 670insA | fs | Second transmembrane domain (M2) | Total cataract and nystagmus | Indian | [38] |
| 741T>G | I247M | COOH-terminus | Zonular pulverulent cataract | Russian | [39] |
| ins776G | fs | COOH-terminus | Triangular nuclear cataract | German | [40] |
| 827C>T | S276F | COOH-terminus | Pulverulent nuclear cataract | Chinese | [41] |