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. 2014 Nov 20;8(11):SE01–SE05. doi: 10.7860/JCDR/2014/6486.5158

[Table/Fig-1]:

Classes of mutation based on their functional role along with the types of mutations

Class Consequense of Mutation Type of Mutation
I No CFTR synthesis Nonsense; Frameshift; Canonical splice
II Failure of CFTR to traffic to the cell surface Missense; Aminoacid deletion
III Failure of CFTR to open at the cell surface Missense; Aminoacid change
IV Decrement in time, the CFTR channel is open at the cell surface Missense; Aminoacid change
V Decreased amount of CFTR at the cell surface Splicing defect; Missense
VI Unstable CFTR with decreased half-life at the cell surface Missense; Aminoacid change

Abbreviation: CFTR- CF transmembrane conductance regulator protein