Mutation Details for c.2188G>T

cDNA Name c.2188G>T 
Protein Name p.Glu730X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E730X 
Other Details This is a nonsense mutation which is caused by a substitution of a G to a T at nucleotide position 2320 thereby creating a stop codon at amino acid position 730. This mutation has been detected once among 46 unrelated Belgian CF chromosomes. 
Contributors Cuppens H, Marynen P, Cassiman JJ   1992-07-15
Institute University of Leuven Leuven, Belgium 
Submitted Phenotype Details The mutation was identified in a male CF patient carrying N1303K on the other allele. No additional clinical information is available. (pers. corr. De Boeck) 
Reference Cuppens et al. 1993 

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The Database was last updated at Apr 25, 2011