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 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011