CF Mutations Flashcards
(6 cards)
1
Q
Class 1
Most frequent mutation seen (letters only)
A
No synthesis
Due to premature stop codon insertion. FRAMESHIFT
W1282X
ATALAUREN
2
Q
Class 2
Most frequent mutation seen (letters only)
A
Block in processing - ie doesn’t reach apical membrane
Delta F508
Deletion of Phenylalanine
3
Q
Class 3
Most frequent mutation seen (letters only)
A
Defective regulation
G551D = missense
glycine substituted for aspartate
4
Q
Class 4
Most frequent mutation seen (letters only)
A
Abnormal conductance if ion channel
Ie reduced permeability to Cl-
R117H
(Ivacaftor can be used for this!)
5
Q
Class 5
Most frequent mutation seen (letters only)
A
Reduced synthesis
Due to incorrect splicing
Mutation in GENE INTRON 16
6
Q
Class 6
Most frequent mutation seen (letters only)
A
Reduced survival
120Del123
