Mutation Details for c.4111G>T

cDNA Name c.4111G>T 
Protein Name p.Glu1371X 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name E1371X 
Other Details This mutation is associated with the A XV2c/KM19 haplotype and was found on one of 25 Caucasian chromosomes. PCR amplification of exon 22 is preformed using exon primer 22e-5'5'GTTGGGCTCAGATCTGTG3' amd intron primer 22i-3'5'CACCATGAAGCAGGCATAA'3'. The intron primer is approximately 70 nucleotides from the 3'spice site of exon 22. Amplification of genomic DNA with these primers produces a fragment of 242 basepairs. The mutation E1271Stop creates an MseI site in exon 22. Digestion of normal exon 22 DNA with MseI results in fragments of 45 and 197 bp while digestion of exon 22 DNA containing this mutation creates fragments of 45, 50 and 147 basepairs. 
Contributors Cutting GR   1990-04-27
Institute Johns Hopkins University Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Cutting et al. 1992 

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The Database was last updated at Apr 25, 2011