Mutation Details for c.2446delA

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

cDNA Name c.2446delA 
Protein Name p.Thr816LeufsX5 
Exon or Intron  
Other Details The patient originates from the Markazi province, located between the centre and west of Iran. 
Contributors and Institutes
Reza Alibakhshi and Roya Kianishirazi - Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Mahdi Zamani - Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Jean-Jacques Cassiman and Harry Cuppens - Center for human Genetics, KULeuven, Herestraat 49 (602), 3000 Leuven, Belgium.
Submitted Phenotype Details The c.2576delA frame-shift mutation was found in exon 13 of the CFTR gene, and will result in a stop codon five codons downstreamof the mutation site. It was found once in a patient that carried S1455X in compound heterozygosity. CF was diagnosed at the age of 4 years and the patient has a classical CF phenotype. 
Reference Alibakhshi R, Kianashirazi R, Jean-Jasques C, Zamani M, Cuppens H. Analysis of the CFTR gene in Iranian cystic fibrosis patients:Identification of eight novel mutations. J Cystic Fibrosis . 2008;7:102–109. 

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The Database was last updated at Apr 25, 2011