Mutation Details for c.271G>A
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cDNA Name
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c.271G>A
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Protein Name
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p.Gly91Arg
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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G91R
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Other Details
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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.
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Contributors
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Guillermit H,
Ferec C
1990-12-21
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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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)
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Reference
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Guillermit et al. 1993
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