Mutation Details for c.1730A>T

cDNA Name c.1730A>T 
Protein Name p.Tyr577Phe 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name Y577F 
Other Details Mutation Y577F and 1874insT were found together in another CF patient from Austria; this boy is also heterozygous for [delta]F508. 
Contributors Dörk T, Skawran B, Antonin W, Ebhard M, Stegh A, Ellemunter H, Schmidtke J, Stuhrmann M    1995-12-07
Institute Medizinische Hochschule Hannover, Germany 
Submitted Phenotype Details Patient (M) is 15y, has PI, severe lung disease (FEV1=27%) and elevated sweat-chloride levels (116mM/l). He has PA colonisation and spenomegalie. 1874insT was found on the same allele as Y577F, DeltaF508 was found on the other allele. (Dörk, contribution to CFMD; Stuhrmann et al. 1997) 
Reference Dörk et al (NL#67) 

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The Database was last updated at Apr 25, 2011