| Identified Mutation |
SER549ARG (1779T>G); A T-to-G change in nucleotide 1779 in exon 11 is responsible for substitution of arginine for serine at amino acid 549 (S549R) (Kerem et al., 1990). Sangiuolo et al. (1991) found the same ser549-to-arg substitution in an Italian patient with severe cystic fibrosis; however, the substitution was caused by an A-to-C change in nucleotide 1777. Thus, the 2 mutations are AGT-to-AGG and AGT-to-CGT. A T-to-C change at nucleotide 1779 would also change serine to arginine.
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