Mutation Details for c.1630G>A

cDNA Name c.1630G>A 
Protein Name p.Gly544Ser 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name G544S 
Other Details This mutation was identified by DGGE and direct sequencing. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet MP, Mercier B   1994-02-18
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with neonatal hypertrypsinemia. (pers.corr. Ferec) Scotet et al., in 2001, is reporting G544S among other 'mild' mutations being observed in carriers. 
Reference FĂ©rec et al. (NL#61) 

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The Database was last updated at Apr 25, 2011