Mutation Details for c.920G>A

cDNA Name c.920G>A 
Protein Name p.Ser307Asn 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name S307N 
Other Details This mutation was detected by heteroduplex analysis in a 38 year-old CBAVD patient of Turkish origin. It was not present in 134 CF and 60 normal chromosomes. The patient was also found to have the 5T allele in cis with TG12 on the other CF chromosome. The serine residue is highly conserved in the CFTR of human, bovine, mouse, Xenopus and dogfish. It abolishes a FokI site.  
Contributors Onay T, Kirdar B   1998-02-26
Institute Bogazici University, Istanbul, Turkey 
Submitted Phenotype Details  
Reference Onay & Kirdar (NL#70) 

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The Database was last updated at Apr 25, 2011