Mutation Details for c.484A>G

cDNA Name c.484A>G 
Protein Name p.Lys162Glu 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name K162E 
Other Details This mutation was detected by DGGE and direct sequencing. K162E was found in one CF patient of Greek origin, among 250 screened. Her other CF mutation is [delta]F508. The patient is an adult mother of two children, she is PS and had borderline sweat test (48mEq/L). She was referred to us for CF mutation screening before her second pregnancy because of the presence of CF child in the immediate family. K162E was not detected among more than 100 normal chromosomes screened.  
Contributors Tzetis M, Antoniadi Th, Kanavakis E   1998-02-02
Institute St. Sophia's Children's Hospital, Athens, Greece 
Submitted Phenotype Details Patient (F) is an adult, has PS, no pulmonary symptoms and borderline sweat-chloride levels. DeltaF508 was found on the other allele. (Pers. corr. Tzetis) 
Reference Tzetis et al. (NL#70) 

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The Database was last updated at Apr 25, 2011