Mutation Details for c.2953G>T

cDNA Name c.2953G>T 
Protein Name p.Asp985Tyr 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name D985Y 
Other Details A novel missense mutation D985Y, in exon 16, was discovered in a CF patient, originating from North-Africa. Sequencing shows a G to T substitution at position 3085. This mutation abolishes as FokI site. The patient is pancreatic insufficient and presents a severe form of the disease. He carries the 711+1G->T mutation on the other chromosome. This novel mutation was not found on 50 non-[delta]F508 CF chromosomes. 
Contributors Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C   1994-06-07
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details One petient, male, is PI, has severe CF, is carrying 711+1G>T on the other allele.(pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#63) 

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The Database was last updated at Apr 25, 2011