Domain | Mutant | GJCs Function | HCs Function | Phenotype |
---|---|---|---|---|
NT | (−) | n.d. | ODDD | |
(−) | (−) | ODDD | ||
TM1 | (−) | (+) | ODDD | |
(−) | n.d. | Small deep-set eyes, syndactyli, dental abnormalities | ||
ECL1 | (−) | (−) | ODDD | |
(−) | n.d. | Sudden infant death, lethal ventricular arrhythmias | ||
(−) | n.d. | ODDD | ||
S69P [235] | (−) | n.d. | Nonsyndromic Hearing Loss | |
(−) | n.d. | Hallermann-Streiff syndrome: small stature, hypotrichosis, teeth and skeletal abnormalities | ||
ICL | (−) | (−) | ODDD | |
(−) | n.d. | ODDD | ||
(−) | (+) | ODDD | ||
(−) | Normal | ODDD | ||
ECL2 | (−) | n.d. | ODDD | |
TM4 | (−) | n.d. | ODDD | |
S272P [232] | Normal | n.d. | Sudden infant death | |
CT | T326I [235] | (−) | n.d. | Nonsyndromic Hearing Loss |
(−) | n.d. | Viscero-atrial heterotaxia/heart malformations |