Submitted Phenotype Details
The p.Trp277* mutation was caused by the transition of G to A at nucleotide position c.830 in exon 6b. It changes a tryptophan to a stop codon at amino acid 277 of the protein. This mutation was found in a third generation Venezuelan male patient carrying the p.Phe508del mutation on the other chromosome. The patient has respiratory symptomatology that appeared for the first time at 3 months of age. He had two positive sweat chloride tests (115 and 100 mmol/L).