Mutation Details for c.1657C>G

cDNA Name c.1657C>G 
Protein Name p.Arg553Gly 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name R553G 
Other Details This mutation was found identified by DGGE and direct sequencing. This nucleotide change was observe in a French CF chromosome. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Raguenes O, Guillermit H, Mercier B   1993-06-07
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (male, 9y) diagnosed at birth. He is PS, has no pulmonary symptoms and sweat chloride was 60 mmol/l. He carries G551D on the other allele. (pers.corr. Ferec) The mutation was identified in a carrier for CF. (Scotet et al., 2001) 
Reference FĂ©rec et al. (NL#59) 

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The Database was last updated at Apr 25, 2011