Mutation Details for c.3844T>C

cDNA Name c.3844T>C 
Protein Name p.Trp1282Arg 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name W1282R 
Other Details In exon 20 we have found one Russian patient with the mutation T3976C. This mutation creates an AciI site. This enzyme also cuts DNA with the A4002G polymorphism. The two can be distinguished based on the size of the products. 
Contributors Ivaschenko T, Baranov V, Dean M   1991-12-05
Institute National Institutes of Health Frederick, MD, USA 
Submitted Phenotype Details  
Reference Ivaschenko et al. 1993 

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.

  • Ivaschenko TE, Baranov VS, Dean M   Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.   1993 003;91(1):63-5

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