Mutation Details for c.1487G>A

cDNA Name c.1487G>A 
Protein Name p.Trp496X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name W496X 
Other Details This mutation was identified by DGGE analysis and direct sequencing. The nucleotide subsitution G->A at position 1619 in exon 10 creates a stop codon instead of a tryptophan in codon 496 (W496X). It was detected in only one CF chromosome (20 CF chromosomes analyzed carrying the same haplotype C (Xv2C, KM19) and was not found in more than 20 normal chromsomes. The above mutation abolishes a ScrfI recognition site and creates a MaeI site. 
Contributors Balassopoulou A   1993-06-17
Institute Laikon General Hospital Athens, Greece 
Submitted Phenotype Details  
Reference Balassopoulou et al. 1994 

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The Database was last updated at Apr 25, 2011