Mutation Details for c.1331T>G

cDNA Name c.1331T>G 
Protein Name p.Ile444Ser 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name I444S 
Other Details The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one CF patient (second mutation: [delta]F508). 
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Nakielna B   1999-03-04
Institute The Hospital for Sick Children, Toronto, Canada St. Paul's Hospital, Vancouver, Canada 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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