Mutation Details for c.3691delT

cDNA Name c.3691delT 
Protein Name p.Ser1231ProfsX4 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3821delT 
Other Details This mutation was found in a single Soviet patient and is a deletion of a T residue at nucleotide 3821 in exon 19. A sample from the father was not available, and both the child and mother are heterozygous for MP6d. The mutation has not been found in 53 other Soviet CF chromosomes or in 96 CF chromosomes from North Americans.  
Contributors Dean M, Belle White M, Gerrard B, Stewart C   1990-03-02
Institute null 
Submitted Phenotype Details  
Reference White et al. 1991a 

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The Database was last updated at Apr 25, 2011