Mutation Details for c.1705T>C

cDNA Name c.1705T>C 
Protein Name p.Tyr569His 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name Y569H 
Other Details This missense mutation was detected by DGGE and identified by sequence analysis. This substitution would result in a histidine at position 569. The mutation was found on a haplotype A in a young [delta}F508 heterozygous French patient. 
Contributors Costes B, Ghanem N, Auloge L, Goossens M   1993-01-18
Institute Centre Hospitalier Universitaire Henri Mondor Paris, France 
Submitted Phenotype Details Y569H was found in a 13y old male diagnosed at 2y, also carrying deltaF508 on the other allele, PI, with moderate lung disease and positive sweat chloride. (pers. corr. Girodon)  
Reference Costes et al. (NL#52) 

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The Database was last updated at Apr 25, 2011