Mutation Details for c.1573C>T

cDNA Name c.1573C>T 
Protein Name p.Gln525X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name Q525X 
Other Details This mutation was first detected by chemical mismatch analysis and involves a C->T substitution at base 1705. This predicts a glutamine to stop mutation at amino acid 525. The mutation is a present in conjunction with [delta]F508 on the other chromosome in a British CF patient. It was not found on 70 non-[delta]F508 CF chromosomes. 
Contributors Shackleton S, Harris A   1993-01-28
Institute University of Oxford Oxford, England 
Phenotype Information CFTR2
Reference Shackleton et al. 1994 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A   Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.   1994;3(2):141-51

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011