Mutation Details for c.3530A>G

cDNA Name c.3530A>G 
Protein Name p.Lys1177Arg 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name K1177R 
Other Details A sequence variation in a normal subject in exon 19 of the human CFTR gene was identified by direct sequencing and dot blots hybridization with allele specific oligonucleotides. The nucleotide substitution is A-G at position 3662 which leads to a change of the Lysine codon to Arginine codon at positive 1177. The 3662 A-G transition creates a new BstN I restriction site and may be detected by restriction only enzyme digest. This sequence variation was found only on one of 38 chromosomes screened. 
Contributors Baralle FE, Serra C, Kobal D   1994-01-31
Institute International Center for Genetic Engineering and Biotechnology Trieste, Italy 
Submitted Phenotype Details  
Reference Baralle et al. (NL#61) 

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