Mutation Details for c.3107C>T

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

cDNA Name c.3107C>T 
Protein Name p.Thr1036Ile 
Exon or Intron  
Other Details He is from the Qazvin province, located between the centre and north-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 p.T1036I missense mutation is located in exon 17a, and was found in one patient who carried p.F508del in compound heterozygosity. He has typical CF. 
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