Mutation Details for c.859_863delAACTT

cDNA Name c.859_863delAACTT 
Protein Name p.Asn287LysfsX19 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name 991del5 
Other Details The 991del5 mutation was detected by DGGE/heteroduplex analysis and direct sequencing. The mutation destroys an AFlII site and was found in 2 Sardinian CF chromosomes. 
Contributors Leoni G B, Rosatelli M C, Cao A   1996-03-22
Institute Universita Degli Studi di Cagliari, Italy 
Submitted Phenotype Details The mutation was found in 2 patients, one male (26 years old, diagnosed at 16 years of age, PI, with high sweat chloride and severe lung disease) and one female (T338I heterozygous with hepatopathy). (pers. corr. Rosatelli)  
Reference Leoni et al. (NL#68) 

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The Database was last updated at Apr 25, 2011