Mutation Details for c.2589_2599delAATTTGGTGCT

cDNA Name c.2589_2599delAATTTGGTGCT 
Protein Name p.Ile864SerfsX28 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2721del11 
Other Details This mutation is a frameshift deletion mutation of 11 nucleotides in which 5'-AATTTGGTGCT-3' is deleted from nucleotide position 2721 : 2721del11. This mutation was found in 1 out of 61 unrelated Belgian CF chromosomes (13 [delta]F508 and 48 non-[delta]F508 CF chromosomes). It can be detected by means of heteroduplexes.  
Contributors Cuppens H, Marynen P, Cassiman JJ   1992-04-13
Institute Center for Human Genetics Leuven, Belgium 
Submitted Phenotype Details The mutation was found in a male carrying I336K on the other allele. (pers. corr. De Boeck) 
Reference Cuppens et al. 1993 

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The Database was last updated at Apr 25, 2011