Mutation Details for c.1125A>C

cDNA Name c.1125A>C 
Protein Name p.Leu375Phe 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name L375F 
Other Details The above mutation was detected by DGGE and identified by direct sequencing using two different sequencing kits (both strands) in a patient with CUAVD. This mutation creates an MboII restriction site. This patient was also found to carry G551D. 
Contributors Jézéquel P   1995-03-15
Institute Université de Rennes I, France 
Submitted Phenotype Details This mutation was found in two male patients (30y and 34y). Both have PS and negative sweat-chloride tests. Male 30y: moderate lung disease and CBAVD, R117H was found on the other allele. Male 34y: no lung disease, CUAVD and hydrocele. G551D was found on the other allele. (Jezequel et all 1996 and pers. corr. Dubourg) 
Reference Jézéquel (NL#65) 

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The Database was last updated at Apr 25, 2011