Mutation Details for c.1705T>G

cDNA Name c.1705T>G 
Protein Name p.Tyr569Asp 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name Y569D 
Other Details Y569D was identified by direct DNA sequencing. The mutation was found in three Pakistani patients, presumed to be unrelated; all were from consanguineous partnerships and all homozygous for the mutation. 60 non-[delta]F508 chromosomes, of which 12 were Pakistani in origin, were negative for Y569D 
Contributors Malone G, Schwarz M, Haworth A   1995-02-14
Institute Royal Manchester Children's Hospital, England 
Phenotype Information CFTR2
Reference Malone et al. (NL#65) 

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The Database was last updated at Apr 25, 2011