Mutations identified in GJA1
| Family number | Mutation in GJA1 | Mutation in connexin 43 | Position of mutation in connexin 43 |
|---|---|---|---|
| ODD1 | nt93T>G | I31M | Transmembrane domain 1 |
| ODD2 | nt427G>A | G143S | Cytoplasmic loop |
| ODD3 | nt443G>A | R148Q | Cytoplasmic loop |
| ODD4 | nt443G>A | R148Q | Cytoplasmic loop |
| ODD5 | nt206C>A | S69Y | Extracellular loop 1 |
| ODD6 | nt402G>T | K134N | Cytoplasmic loop |
| ODD7 | nt119C>T | A40V | Transmembrane domain 1 |
| ODD8 | nt338T>C | L113P | Cytoplasmic loop |
| ODD9 | nt79T>C | S27P | Transmembrane domain 1 |
| ODD10 | nt605G>A | R202H | Extracellular loop 2 |