Mutation Details for c.91C>T

cDNA Name c.91C>T 
Protein Name p.Arg31Cys 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name R31C 
Other Details This missens mutation (in the CFTR gene) had a nucleotide change of C to T at position 223 in exon 2 leading to a cysteine for arginine substitution at codon 31 (R31C). The substitution has been found in a 35 years old man having an atypical form of CF.  
Contributors Costes B, Ghanem N, Goossens M   1993-06-25
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Phenotype Information CFTR2
Reference Costes et al. (NL #56) 

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The Database was last updated at Apr 25, 2011