Mutation Details for c.980T>G

cDNA Name c.980T>G 
Protein Name p.Leu327Arg 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name L327R 
Other Details This mutation is a substitution of T to G at position 1112 in nucleotide sequence and causes the replacement of a leucine by arginine residue in codon 327. This variation was observed by SSCP analysis during screening of CF samples for mutations. We are currently investigating wheter or not this alteration is a mutation or polymorphism. 
Contributors Ravnik-Glavac M, Glavac D, Dean M   1993-02-07
Institute Department of Health & Human Services Frederick, MD, USA 
Submitted Phenotype Details  
Reference Ravnik-Glavac et al. (NL#53) 

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The Database was last updated at Apr 25, 2011