Mutation Details for c.1766G>A

cDNA Name c.1766G>A 
Protein Name p.Ser589Asn 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name S589N 
Other Details The above mutation was detected by DGGE and characterized by direct sequencing. S586N probably affects RNA splicing. It was found in a male with CF carrying [delta]F508 on the other allele. The change was not observed in 100 other CFTR alleles from 50 unrelated individuals without family history of CF. 
Contributors Scheffer H, Wu Y, Hofstra R, Looman M, Buys C   1996-03-06
Institute University of Groningen, The Netherlands 
Submitted Phenotype Details  
Reference Scheffer et al. (NL#68) 

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The Database was last updated at Apr 25, 2011