[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