Mutation Details for c.3747delG

cDNA Name c.3747delG 
Protein Name p.Lys1250ArgfsX9 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3878delG 
Other Details We have found at nucleotide 3878 the deletion of a G in a patient with pancreatitis. To our knowledge this mutation has not been described previously. The mutation was detected by DGGE and heteroduplex analysis. It was identified by cloning and sequencing. It was confirmed by restriction site generated PCR: F modified primer 5' CTTGGGAAGAACTGGATCCG 3' creates a Scr FI site that is destroyed by the mutation. 
Contributors Gomez Lira M, Marzari G, Pignatti P F   1999-04-30
Institute Institute of Biology and Genetics University of Verona, Italy 
Submitted Phenotype Details The 14 years old male patient with pancreatitis carries 3849+10kbC->T on the other allele.(Castellani et al. 2001) 
Reference Gomez Lira et al. 1999 

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The Database was last updated at Apr 25, 2011