Mutation Details for c.1435G>T

cDNA Name c.1435G>T 
Protein Name p.Glu479X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name E479X 
Other Details This mutation is identified on one Italian CF chromosome applying a protocol of extended mutation search. The mutation deltaF508 was found on the other allele. The E479X mutation produces anomalous electropherogram, and possibily wrong genetic characterization, by PCR/OLA assay, interfering with exon 10 amplification or OLA probing. 
Contributors Narzi L, Stamato A, Narzi F, Amato A, Lucarelli M, Strom R, Quattrucci S.   2007-03-13
Institute Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics and Clinical Biochemistry Section , Dept. of Cellular Biotechnologies and Hematology; University of La Sapienza, Rome, italy. 
Submitted Phenotype Details The CF individual (male, 30 yrs) was diagnosed at 1 year of age by symptoms; he is PI with sweat chloride at 106 mmol/l. He has moderate pulmonary disease with persistent P Aeruginosa colonization and mild liver involvement. 

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The Database was last updated at Apr 25, 2011