Mutation Details for c.3683A>G

cDNA Name c.3683A>G 
Protein Name p.Glu1228Gly 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name E1228G 
Other Details This mutation was found by DGGE and identified by DNA sequencing. It was found in a Turkish patient; mutation on the other CF chromosome remains unidentified. 
Contributors Kilinc O, Dagli E, Tolun A   2000-02-08
Institute Department of Molecular Biology and Genetics Bogazici University, Istanbul, Turkey 
Submitted Phenotype Details The patient (9,male) was diagnosed at 1 month, is PS, sweat chloride is <60 mmol/l, has severe lung disease, bronchiectasis and carries an unidentified mutation on the other allele. (pers. corr. Kilinc) 
Reference Kilinc et al. 2000 

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