Mutation Details for c.459_476delAATAGCTATGTTTAGTTT

Protein Name p.Ala155_Ile160del 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 591del18 
Other Details A mutation caused by deletion of 18 bp(591del 18) was identified in exon 4. The mutation was detected by apperance of heteroduplexes and shorter PCR product in agarose gel electrophoresis and was confirmed by direct sequencing. The 591del 18 mutation results in the loss of recognition sites for the restriction enzymes AluI, CviJI and MliI and creates a MnII restricion site. The mutation ahs been found in two patients (siblings) out of 218 non-[delta]F508 alleles tested.  
Contributors Varon R, Reis A   1994-12-12
Institute Freie Universitat Berlin Berlin, Germany 
Submitted Phenotype Details The mutation was identified associated with monosymptomatic CF (nasal polyposis) (Varon et al. 1995) 
Reference Varon & Reis (NL#64) 

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The Database was last updated at Apr 25, 2011