Table 2.
GJB1 mutations in 22 CMT1X patients from unrelated families in this study
| Patient number | Nucleotide changes | Amino acid changes | Domain | Novel mutation |
|---|---|---|---|---|
| 1 | c.44G>T | R15L | N-terminal domain | No |
| 2 | c.59T>G | I20T | N-terminal domain | No |
| 3 | c.62G>A | G21D | N-terminal domain | No |
| 4 | c.115G>T | A39S | TM1 | Yes |
| 5 | c.194A>G | Y65C | EC1 | No |
| 6 | c.263C>A | A88D | TM2 | Yes |
| 7 | c.379A>T | I127F | IC | Yes |
| 8 | c.380T>A | I127N | IC | No |
| 9 | C.403_404insT | Y135fsX146 | TM3 | No |
| 10 | c.424C>T | R142W | TM3 | No |
| 11 | c.424C>T | R142W | TM3 | No |
| 12 | c.425G>A | R142Q | TM3 | No |
| 13 | c.425G>A | R142Q | TM3 | No |
| 14 | c.490C>T | R164W | EC2 | No |
| 15 | c.533A>G | D178G | EC2 | No |
| 16 | c.548G>A | R183H | EC2 | No |
| 17 | c.548G>A | R183H | EC2 | No |
| 18 | c.547C>T | R183C | EC2 | No |
| 19 | c.556G>A | E186K | EC2 | No |
| 20 | c.590C>T | A197V | TM4 | No |
| 21 | c.614A>G | N205S | TM4 | No |
| 22 | c.818_819insGGGCT | L273fs | C-terminal domain | Yes |
CMT1X: X-linked Charcot-Marie-Tooth type 1; EC: Extracellular domain; TM: Transmembrane domain; IC: Intracellular loop; GJB1: Gap junction beta-1 protein.