Mutation Details for c.4225G>A

cDNA Name c.4225G>A 
Protein Name p.Glu1409Lys 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name E1409K 
Other Details This mutation was detected by DGGE method from a Spanish CBAVD patient carriying the N1303K mutation in the other allele.It was not found in 200 CF chromosomes. It destroys a BsmI restriction site. 
Contributors Alonso MJ, Velasco E, Telleria J, Fernandez I, Blanco A.   2003-07-13
Institute Laboratorio de PediatrĂ­a- IBGM. Facultad de medicina. Universidad de Valladolid. Spain 
Submitted Phenotype Details CBAVD 

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The Database was last updated at Apr 25, 2011