Mutation Details for c.1081T>A

cDNA Name c.1081T>A 
Protein Name p.Trp361Arg 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name W361R(T->A) 
Other Details This mutation corresponds to a T to A substitution in exon 7. A similar mutation had been previously identified by Bienvenu et al. but the nucleotide change was T-C (Newsletter#56). 
Contributors Telleria J J, Alonso M J   1998-06-01
Institute Instituto de Biologia y Genetica Molecular Facultad de Medicina, Valladolid, Spain 
Submitted Phenotype Details The patient (male) was diagnosed at 6y, died at 26y,was PI, had severe lung disease and sweat chloride above 100 mmol/l. He carried delF508 on the other allele. (pers. cprr. Telleria) 
Reference Telleria & Alonso 1998 

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The Database was last updated at Apr 25, 2011