Table 2 of Ding, Mol Vis 2011; 17:1343-1349. Table 2 of Ding, Mol Vis 2011; 17:1343-1349.
Table 2. Mutations in human connexin 46 (GJA3).
| Amino acid change |
Location |
Cataract type |
Family origin |
Reference |
|---|---|---|---|---|
| D3Y | NH2-terminal cytoplasmic loop | Zonular pulverulent | Hispanic | [41] |
| L11S | NH2-terminal cytoplasmic loop | Ant-egg | Danish | [32] |
| V28M | First transmembrane domain | variable | Indian | [42] |
| F32L | First transmembrane domain | Nuclear pulverulent | Chinese | [43] |
| R33L | First transmembrane domain | Embryonal nuclear granular | Indian | [28] |
| V44M | First extracellular loop | Nuclear | Chinese | [44] |
| W45S | First extracellular loop | Nuclear | Chinese | [45] |
| P59L | First extracellular loop | Nuclear punctate | American | [46] |
| N63S | First extracellular loop | Zonular pulverulent | Caucasian | [47] |
| R76G | First extracellular loop | Total | Indian | [42] |
| R76H | First extracellular loop | Nuclear pulverulent | Australian | [48] |
| T87M | Second transmembrane domain | Pearl box | Indian | [49] |
| P187L | Second extracellular loop | Zonular pulverulent | Caucasian | [34] |
| P187S | Second extracellular loop | Nuclear pulverulent | Chinese | Present study |
| N188T | Second extracellular loop | Nuclear pulverulent | Chinese | [35] |
| S380fs | COOH-terminal cytoplasmic loop | Zonular pulverulent | Caucasian | [46] |