Mutation Details for c.526delA

cDNA Name c.526delA 
Protein Name p.Ser176ValfsX13 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name 657delA 
Other Details The above mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was found on the same chromosome carrying 406-6T->C, in a male CF patient whose other mutation is 1154insTC. 657delA was seen only once in over 200 non-[delta]F508 chromosomes screened. The DGGE primers were supplied by Prof. Michel Goossens on behalf of the European Community Concerned Action for the Co-ordination of Cystic Fibrosis Research and Therapy. 
Contributors Malone G, Hawworth A, Schwarz M   1995-10-11
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details One CF patient (male, born in 1987)diagnosed at 9m. He has severe lung disease and sweat chloride 79 mmol/l. 1154insTC on the other allele. (pers.corr. Schwarz) 
Reference Malone et al (NL#67) 

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The Database was last updated at Apr 25, 2011