Mutation Details for c.3254A>G
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cDNA Name
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c.3254A>G
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Protein Name
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p.His1085Arg
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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H1085R
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Other Details
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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.
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Contributors
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Audrezet MP,
Mercier B,
Quere I,
Guillermit H,
Ferec C
1991-09-09
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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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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.
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Reference
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Mercier et al. 1993b
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