Mutation Details for c.2443G>T

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.2443G>T 
Protein Name p.Glu815X 
Exon or Intron  
Other Details Because of the clinical findings, the p.Glu815* mutation was classified as a CF causing mutation. 
Contributors and Institutes
Instituto Venezolano de Investigaciones Cientificas -
Submitted Phenotype Details The p.Glu815* mutation was caused by the transversion of G to T at nucleotide position c.2444 in exon 13. It changes a glutamic acid to a stop codon at amino acid 815 of the protein. This mutation was found to be homozygotic in a third generation Venezuelan male patient. The patient has respiratory and gastric symptomatology that appeared for the first time at age 6 months, and he had two positive sweat chloride tests (111 and 108 mmol/L) 
Reference in prees 

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The Database was last updated at Apr 25, 2011