Mutation Details for c.3254A>G

cDNA Name c.3254A>G 
Protein Name p.His1085Arg 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name H1085R 
Other Details The mutation was found once in 87 non-[delta]F508 chromosomes screened. The patient is 20 years old, pancreatic insufficient with no cirrhosis. The other chromosome is [delta]F508 and the H1085R is on a B haplotype. A girl homozygous for H1085R was also found in Japan by Kunihiko Yoshimura.  
Contributors Audrezet MP, Mercier B, Quere I, Guillermit H, Ferec C   1991-09-09
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details Patient (F) is 15y, has PI, high sweat-chloride levels (201mM/l), chronic sinusitis and PA colonisation.This patient is homozygous for H1085R.(Yoshimura et al. 1999) One male patient,24 years old, carrying 2711delT on the other allele. No clinical info available. (pers.corr.Feldmann) One homozygous patient. No clinical info available (pers.corr. Mercier) One French CF patient (male, 30y), PI, carries deltaF508 on the other allele. 
Reference Mercier et al. 1993b 

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The Database was last updated at Apr 25, 2011