Mutation Details for c.418C>T

cDNA Name c.418C>T 
Protein Name p.Pro140Ser 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name P140S 
Other Details A novel mutation has been identified by DGGE and direct sequencing. The nucletoide change C->T, at position 550, leads to P140S in exon 4. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet M-P, Mercier B   1994-01-03
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with diseminated bronchiectasis. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#61) 

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The Database was last updated at Apr 25, 2011