Phenotypic and molecular characteristics of CF patients carrying the I1234V mutation.

•Although clinical data regarding this mutation is limited, the I1234V mutation is common among Arab-Muslim populations.•The mechanisms leading to loss of function is not fully understood.•This study implies by molecular dynamic simulation that the mutation may be a part of the class II mutation and results in CFTR misfolfing.•Although patients present with abnormal sweat chloride results which indicates substantially low CFTR activity, as in patients homozygous for the 508 del mutation; phenotypically the disease is milder with more favorable outcome.