Mutation Details for c.1706A>G

cDNA Name c.1706A>G 
Protein Name p.Tyr569Cys 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name Y569C 
Other Details The mutation was detected by SSCP analysis, followed by direct sequencing of amplified DNA using the primers 5'-GTGAATCGATGTGGTGACCA-3' and 5'-CTATGATGGGACAGTCTG-3'. It can not be detected by restriction enzyme analysis. The mutation was seen in a girl from the Republic of Croatia, whose other CF chromosome carries the [delta]F508 mutation. The Y569C mutation was not found among 84 CF (17[delta]F508) and among 12 normal chromosomes. 
Contributors Plaseska D, Koceva S, Efremov GD   1992-04-29
Institute Macedonian Academy of Sciences Skopje, Republic of Macedonia 
Submitted Phenotype Details  
Reference Plaseska et al. (NL#45) 

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The Database was last updated at Apr 25, 2011