Mutation Details for c.940G>C

cDNA Name c.940G>C 
Protein Name p.Gly314Arg 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name G314R 
Other Details This mutation was detected by chemical mismatch and sequencing. The mutation is a G to C change at nucleotide 1072. This results in a glycine to arginine substitution at amino acid 314 (G314R). It is in exon 7 and it eliminates a DdeI restriction site. This mutation was found in a patient with an American Indian/Caucasian mother and Dutch/French father. This patient has a [delta]F508 mutation on the other chromosomes and is pancreatic insufficient. This mutation was not found in 25 normal chromosomes and 25 CF chromosomes. 
Contributors Nasr S, Strong T, Smit L, Collins F   1993-07-01
Institute University of Michigan Ann Arbor MI, USA 
Submitted Phenotype Details  
Reference Nasr et al. (NL#56) 

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The Database was last updated at Apr 25, 2011