Mutation Details for c.4296C>G

cDNA Name c.4296C>G 
Protein Name p.Asn1432Lys 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name N1432K 
Other Details The C->G substitution at nucleotide 4428 results in the replacement of Asparagine for Lysine at aminoacid 1432. We suggest it is a polymorphism since it was not found among 100 pathological chromosomes screened and found once among 60 normal chromosomes screened. The carrier of N1432K is the mother of a CF patient; she has [delta]F508 in trans, and the chloride sweat test is normal. 
Contributors Antoniadi T, Tzetis M, Kanavakis E   1996-12-12
Institute Athens University, First Dept of Pediatrics Unit of Molecular Medicine St. Sophias Children Hospital Athens, Greece 
Submitted Phenotype Details  
Reference Antoniadi et al. (NL#69) 

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