Mutation Details for c.1466C>A

cDNA Name c.1466C>A 
Protein Name p.Ser489X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name S489X 
Other Details This mutation was detected by SSCP analysis and identified by direct DNA sequencing in exon 10 of the CFTR gene. It is the substitution of a single base (C to A) at position 1598, which results in the replacement of a serine residue by a termination codon at codon 489. The patient is a 17 year old female whose other mutation is G551D 
Contributors Macdonald K, Haworth, A Malone G, Schwarz M   1994-08-15
Institute Manchester Children's Hospital Manchester, UK 
Phenotype Information CFTR2
Reference Macdonald et al. (NL#63) 

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The Database was last updated at Apr 25, 2011