Mutation Details for c.1579G>C

cDNA Name c.1579G>C 
Protein Name p.Glu527Gln 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name E527Q 
Other Details The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in heterozygous form in a patient thought to be mildly affected with CF, with age of onset at 20 years, chronic bronchietasis, malabsorption and x-ray findings suggestive of CF. Her other mutation is [delta]F508. We have seen it only once in this patient referred by the Leicester Genetic Center at Leicester among over 200 non-[delta]F508 chromosomes screened. 
Contributors Byrne K, Malone G, Haworth A, Schwarz M   1997-08-22
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details One female CF patient, born in 1941,diagnosed with chronic bronchiectasis and malabsorption at 20 yrs. (pers.corr. Schwarz) 
Reference Byrne et al. (NL#70) 

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