Mutation Details for c.1766G>T

cDNA Name c.1766G>T 
Protein Name p.Ser589Ile 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name S589I 
Other Details This mutation was detected by DGGE and identified by direct sequencing. The mutation was found in a CF patient who is also heterozygous for [delta]F508 and G576A (phase yet to be established). The DGGE primers were generously supplied by Prof Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy. We have seen this mutation only once in over 200 non-[delta]F508 chromosomes screened, in this patient referred by the East Anglican Regional Genetics Service at Cambridge (UK). 
Contributors Schwarz M, Andrew N, Malone G   1999-07-27
Institute Royal Manchester Children's Hospital England 
Submitted Phenotype Details The mutation was identified in cis with G576A and R668C in a female CF patient carrying deltaF508 on the other allele.(pers.corr. Schwarz) 
Reference Schwarz et al. 1999 

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