Table 2 of
Yan, Mol Vis 2008; 14:418-424. Table 2 of
Yan, Mol Vis 2008; 14:418-424.
Table 2. Summary of identified mutations in the human connexin 50 gene.
| Mutation | Amino acid change | Population | Location | Reference |
|---|---|---|---|---|
| 68G>C | R23T | Iranian | NH2-terminus | 5 |
| 131T>A | V44E | Indian | First transmembrane domain | 23 |
| 142G>A | E48K | Pakistani | E1 | 24 |
| 191T>G | V64G | Chinese | E1 | 25 |
| 235G>C | V79L | Indian | Second transmembrane domain | 27 |
| 262C>T | P88S | English | Second transmembrane domain | 26 |
| 262C>A | P88Q | English | Second transmembrane domain | 21 |
| 593G>A | R198Q | Indian | E2 | 23 |
| 741T>G | I247M | Russian | the COOH-terminus | 28 |
| 827C>T | S276F | Chinese | the COOH-terminus | This paper |