Mutation Details for c.1135G>A

cDNA Name c.1135G>A 
Protein Name p.Glu379Lys 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name E379K 
Other Details This mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Southern France, who carried the D443Y mutation in trans. 
Contributors Claustres M, des Georges M, Guittard C   2002-03-12
Institute IURC Montpellier 
Submitted Phenotype Details Patient (M) has PS, no lung disease and CBAVD. D443Y was found on the other allele. (pers. corr. Claustres) 
Reference Claustres et al. 2002 

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The Database was last updated at Apr 25, 2011