Mutation Details for c.178G>T

cDNA Name c.178G>T 
Protein Name p.Glu60X 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name E60X 
Other Details This mutation was detected by direct DNA sequencing and is a single base change from a G to a T at the beginning of codon 60. This changes the codon from GAG (glutamic acid) to TAG (termination codon). The mutation was seen in a girl whose other CF chromosome carries the [delta]F508 mutation. The patient presented with meconium ileus, had a sweat sodium concentration of 86meq/I and died at the age of 7 years. The E60X mutation was seen on a chromosome with the 'A' haplotype i.e. XV2c type 1 and KM19 type 1. Although we have only seen this mutation once so far, we believe that the conversion from glutamic acid residue to a stop codon is suggestive of a CF mutation.  
Contributors Malone G, Schwarz M, Super M   1991-11-22
Institute Royal Manchester Children's Hospital Pendlebury, UK 
Phenotype Information CFTR2
Reference Malone et al. (NL#40) 

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The Database was last updated at Apr 25, 2011