Mutation Details for c.2953G>T
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cDNA Name
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c.2953G>T
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Protein Name
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p.Asp985Tyr
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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D985Y
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Other Details
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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.
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Contributors
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Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1994-06-07
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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One petient, male, is PI, has severe CF, is carrying 711+1G>T on the other allele.(pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#63)
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