Mutation Details for c.1654C>T

cDNA Name c.1654C>T 
Protein Name p.Gln552X 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name Q552X 
Other Details This nonsense mutation was detected in an Italian PI patient through DGGE screening and direct sequencing. The nucleotide change is C1786->% and generates a Gln to Stop substitution in codon 552. This transition originates a new recognition site for HpaI starting at nucleotide 1784. The mutation was found in only one out of 108 non-[delta]F508 Italian CF chromosomes analyzed in Paris by the DGGE technique and it was not found in 45 non-[delta]F508 CF French chromosomes.  
Contributors Goossens M, Fanen P, Vidaud M Romeo G, Ronchetto P, Telleria JJ, Devoto M   1990-10-02
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France Istituto Giannina Gaslini Genova, Italy 
Phenotype Information CFTR2
Reference Devoto et al. 1991 

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Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011