Mutation Details for c.1331T>C

cDNA Name c.1331T>C 
Protein Name p.Ile444Thr 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name I444T 
Other Details The I444T Mutation was detected by DPHLC and direct sequencing. The CFTR screening was performed on the spouse of a F508del heterozygote. We don't know yet if I444T is a polymorphism or a real mutation. We will investigate the question. 
Contributors Pasquet M.C., Baudis M, Mittre.H., Kitzis A.    2007-04-25
Institute Laboratoire de Genetique Cellulaire et Moleculaire, CHU de Poitiers, France 
Submitted Phenotype Details  

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