Mutation Details for c.3529A>T

cDNA Name c.3529A>T 
Protein Name p.Lys1177X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name K1177X 
Other Details This mutation has been identified in two very different patients. The first patient, who is Saudi Arabian, was homozygous and the second one (Bahraini) was heterozygous for K1177X / H139L. 
Contributors Eskandarani H A   2001-08-20
Institute Dept of Biochemistry College of Medicine, King Faisal University, Dammam, Saudi Arabia 
Submitted Phenotype Details The mutation was found in 2 patients, both females, diagnosed at 2 and 5 years of age, both PI, with moderate to severe lung disease and sweat chloride over 60 mmol/l. Both had meconium ileus and failure to thrive. They carry K1177X (the 5-year old) and H139L (the 2-year old) on the other allele. (pers. corr. Eskandarani) 
Reference Eskandarani 2001 

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The Database was last updated at Apr 25, 2011