Mutation Details for c.4226A>T

cDNA Name c.4226A>T 
Protein Name p.Glu1409Val 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name E1409V 
Other Details This mutation was detected by DGGE in exon 23 from a patient from southern France. The substitution was not found in 150 normal chromosomes. It destroys a BsmI restriction site. 
Contributors Claustres M, Giensily M, Laussel M, Razakaizara G   1993-05-06
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details This individual is NOT a CF patient, but a carrier. No other mutations were found. (Pers. corr. Claustres) 
Reference Claustres et al. (NL#55) 

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The Database was last updated at Apr 25, 2011