Mutation Details for c.1081T>C
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cDNA Name
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c.1081T>C
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Protein Name
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p.Trp361Arg
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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W361R(T->C)
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Other Details
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This mutation was found in one French female patient with CF. This mutation was detected by DGGE using chemical clamps and identified by direct sequencing : W361R (T->C at 1213). This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This mutation can easily be detected by restriction enzyme digestion as it destroys an NIaIII site. The patient was sufficient pancreatic, presented a pulmonary form and died at the age of 44 years. Furthermore, this patient has also the new splicing mutation 297-3C->T on the other chromosome.
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Contributors
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Bienvenu T,
Bousquet S,
Herbulot C,
Aiach N,
Kaplan JC,
Beldjord C
1993-06-22
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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 patient (female, 54y) diagnosed at 25y, is PS, has severe lung disease, sweat chloride 126 mmol/l. 297-3G>T on the other allele(pers.corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#56)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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