Mutation Details for c.1840G>T

cDNA Name c.1840G>T 
Protein Name p.Asp614Tyr 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name D614Y 
Other Details This substitution involves a residue conserved among species and affects the charge of the CFTR protein. It was found in a CF patient heterozygous for 1677delTA (the assignement was not possible), and presenting with a severe classical form. D614Y creates a HindIII restriction site. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details D614Y was found in a patient carrying 1677delTA on the other allele. he was 33y, diagnosed at 8y, PI with severe phenotype. (pers. corr. Girodon)  
Reference Girodon 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