Table 2 Frequency of mutations detected among the studied patients
From: Mutation spectrum of Egyptian children with cystic fibrosis
Mutation | Allele frequency, N = 50 (%) | Class of mutation |
|---|---|---|
ΔF508 | 29 (58) | Class II Non-functional, degraded mutant CFTR protein |
2183AA/G | 5 (10) | Class I Shortened protein |
N1303K | 3 (6) | Class II |
R1162X | 3 (6) | Class IV Reduced chloride conductance |
I148T | 2 (4) | Alone it is a neutral polymorphism not causing CF |
W1282X | 2 (4) | Class I Shortened protein |
A544E | 2 (4) | |
G155D | 1 (2) | Class III Channel cannot be regulated properly |
CFTRdel2,3 (21 KB) | 1 (2) | Class I Shortened protein |
3199del6 | 1 (2) | Class II |
R347P | 1 (2) | Class IV Reduced chloride conductance |