Mutation Details for c.3731G>A

cDNA Name c.3731G>A 
Protein Name p.Gly1244Glu 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name G1244E 
Other Details This missense mutation was detected in an Italian PI patient through DGGE screening and direct sequencing. The nucleotide changeis G3863-A and generates a Gly to Glu substitution in codon 1244. As a result the recognition site for MboII starting at nucleotide 3863 is destroyed. The mutation was found only once out of 110 non-[delta]F508 Italian CF chromosomes analyzed in Paris by the DGGE technique and it was not found in 45 non-[delta]F508 CF French chromosomes. 
Contributors Goossens M, Fanen P, Vidaud M Romeo G, Ronchetto P, Devoto M   1990-08-09
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France Istituto Giannina Gaslini Genoa, Italy 
Phenotype Information CFTR2
Reference Devoto et al. 1991 

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The Database was last updated at Apr 25, 2011