Mutation Details for c.1081T>C

cDNA Name c.1081T>C 
Protein Name p.Trp361Arg 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name W361R(T->C) 
Other Details 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. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Aiach N, Kaplan JC, Beldjord C   1993-06-22
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details 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) 
Reference Bienvenu et al. (NL#56) 

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The Database was last updated at Apr 25, 2011