Table 1 Clinical significance of naturally occurring point mutants of CFTR PTM sites.

Given are the residue, observed point mutation, and clinical significance of point mutations as reported in the CFTR mutation databases (30).

Modified peptide sequenceSiteA score [−10× log(P)]Mutation in CF patientsClinical significance
T*SNGDDSLFFSNFSLLGTPVLKT42119.21T421ACBAVD
GQLLAVAGSTGAGK(me)TK464K464 NCF, severe phenotype at
early age with pancreatic
insufficiency, chronic
cough and bronchial
infection, 3659delC
mutation on the other
chromosome (expected to
lead to pancreatic
insufficiency)
FAEK(ub)DNIVLGEGGITLSGGQRK536K536EParent of a child with a
positive newborn
screening test
DNIVLGEGGITLS*GGQRS54964.79S549 N, S549I, S549F, S549RCF, severe clinical phenotype
AVYK(ub)DADLYLLDSPFGYLDVLTEKK564K564ECBAVD
NS*ILTETLHRS66056.02S660 TAsymptomatic
NSILTETHR(me)R668R668CDoes not cause CF
LS*LVPDSEQGEAILPRS73794.12S737FElevated sweat chloride
LSLVPDSEQGEAILPR(me)IR751R751P, R751C, R751LLung disease, carrier testing
for R751C
VSLAPQANLTELDIYSR(me)RR810R810GCBAVD (∆F508 on other
allele)
LS*QETGLEISEEINEEDLKS81369.89S813PVery mild CF
AYFLQTSQQLK(ub)QLESEGRK1041K1081RReduction of band C
(McClure 2014)
TGSGK(ub)STLLSAFLRK1250K1250A mutation
dramatically prolonged
burst duration (abolishes
adenosine triphosphate
hydrolysis)