Mutation Details for c.331C>G

cDNA Name c.331C>G 
Protein Name p.Pro111Ala 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name P111A 
Other Details The mutation was identified by DGGE and direct DNA sequencing in a CBAVD patient. He has a stop mutation R553X on the other allele. 
Contributors Férec C, Verlingue C, Quere I, Mercier B   1996-11-28
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The CBAVD patient carries R553X on the other allele. (pers. corr. Ferec) 
Reference Férec et al. (NL#69) 

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The Database was last updated at Apr 25, 2011