Mutation Details for c.1580A>G

cDNA Name c.1580A>G 
Protein Name p.Glu527Gly 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name E527G 
Other Details The mutation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Enzyme Analysis: it destroys a MboII restriction site. It was found once out of 36 chromosomes from neonates with transient hypertrypsinaemia and heterozygotes for a CF mutation.The mutation on the other chromosome of the patient is [delta]F508. The mutation was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients. 
Contributors Benetazzo MG, Bombieri C, Castellani C, Pignatti PF.   1998-05-26
Institute Ist. Biologia e Genetica, Universita' di Verona 
Submitted Phenotype Details The patient (0.1 yrs, male)presented with neonatal hypertrypsinaemia, no meconiumileus, is PS and has normal sweat chloride. He has delF508 on the other allele. 
Reference Benetazzo et al. (NL#70) 

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The Database was last updated at Apr 25, 2011