Mutation Details for c.2173G>A

cDNA Name c.2173G>A 
Protein Name p.Glu725Lys 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E725K 
Other Details This mutation was detected by DGGE and direct sequencing. E725K was found in one female CF patient of Greek origin (1/500chromosomes); her other mutation is unknown. 
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, mild lung disease and sweat chloride levels of 60mEq/l. The other mutation is unknown. (Pers. corr. Tzetis) 
Reference Tzetis et al. (NL#70) 

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The Database was last updated at Apr 25, 2011