Mutation Details for c.3222T>A

cDNA Name c.3222T>A 
Protein Name p.Phe1074Leu 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name F1074L 
Other Details F1074L was observed by direct sequencing after detection of an abnormal DGGE pattern in exon 17b. CF patient with unknown mutation in the other chromosome, presented lung involvement and PI. 
Contributors Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   1995-03-22
Institute Institut de Recerca Oncologica Barcelona, Spain 
Submitted Phenotype Details Patient (M) is 15y, has PI, FEV1=93% and sweat-chloride levels of 100mM/l. No other mutations have been found. This mutation was also found in 2 CBAVD patients. (Pers. corr. Casals) 
Reference Casals et al. (NL#65) 

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The Database was last updated at Apr 25, 2011