Mutation Details for c.271G>A

cDNA Name c.271G>A 
Protein Name p.Gly91Arg 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name G91R 
Other Details This mutation was observed through DGGE screening and direct DNA sequencing. The substitution is a G->A at nucleotide position 403. It changes a glycine residue for an arginine G91R. The haplotype bearing the mutation is a C haplotype. The CF child has a [delta]F508 on th other chromosome. He is 9 years old and pancreatic sufficient. The substitution was observed once on 87 non-[delta]F508 chromosomes and non oberved on 70 [delta]F508 chromosomes. 
Contributors Guillermit H, Ferec C   1990-12-21
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details 3 patients (1,4,12, males), first 2 siblings, all PS. DelF508 on the other allele in all 3. (Guillermit et all 1993) One patient (male, 13) diagnosed at 1 year of age, carrying delF508 on the other allele. Sweat chloride 92-98 mmol/l. One additional patient known to the lab with G91R. (pers.corr. Feldmann) One French patient (male, 20) diagnosed at 1 year old, sweat chloride 105 mmol/l. DeltaF508 on the other allele. (pers. corr. Ferec)  
Reference Guillermit et al. 1993 

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The Database was last updated at Apr 25, 2011