Table 2. Characteristics of CFTR gene mutations in Chinese CF patients in the available published literature.
| Case |
CFTR allele 1 |
CFTR allele 2 |
||
|---|---|---|---|---|
| Nucleotide change | Amino acid change | Nucleotide change | Amino acid change | |
| 1 (ref. 9) | E2 del about 30 bp | NA | NA | NA |
| 2 (ref. 10) | c.1766+5G>T | NA | NA | NA |
| 3 (ref. 11) | c.1766+5G>T | NA | c.1766+5G>T | NA |
| 4 (ref. 12) | c.1766+1G>T | NA | NA | NA |
| 5 (ref. 13) | c.319–326delGCTTCCTA | p.A107X | c. 2909G>A | p.G970D |
| 6 (ref. 14) | c.1766+5G>T | NA | c.2083dupG | p.E695GfsX35 |
| c.2684G>A | p.S895N | |||
| 7 (ref. 14) | c.1766+5G>T | NA | c.2083dupG | p.E695GfsX35 |
| c.2684G>A | p.S895N | |||
| 8 (ref. 15) | c.19G>T | p.E7X | c. 860dupA | p.N287KfsX21 |
| 9 (ref. 15) | c.1766+5G>T | NA | c.2083dupG | p.E695GfsX35 |
| c.2684G>A | p.S895N | |||
| 10 (ref. 16) | c.1657C>T | p.R553X | c.1657C>T | p.R553X |
| 11 (ref. 17) | c.567C>A | p.N189K | c.3691delT | p.S1231PfsX4 |
| 12 (ref. 18) | c.263T>G | p.L88X | c.2909G>A | p.G970D |
| 13 (ref. 18) | c.3196C>T | p.R1066C | c.3196C>T | p.R1066C |
| 14 (ref. 8) | c.293A>G | p.Q98R | c.293A>G | p.Q98R |
| 15 (ref. 8) | c.95T>C | p.L32P | c.1657C>T | p.R553X |
| 16 (ref. 8) | c.293A>G | p.Q98R | c.558C>G | p.N186K |
| 17 (ref. 8) | c.2052 dupA | p. Q686TfsX3 | ΔE18-E20 (c.2909−?_3367+?del) | p.G980_T1112 delinsG |
| 18 (ref. 8) | c.2909G>A | p.G970D | ΔE7-E11 (c.744−?_1584+?del) | p.R248_E528 delinsRfsX11 |
| 19 (ref. 8) | c.1666A>G | p.I556V | Not detected | NA |
| 20 (ref. 8) | c.1679+2T>C | NA | c.2658-1G>C | NA |
Abbreviations: CF, cystic fibrosis; NA, not applicable.