Mutation Details for c.4015C>T

cDNA Name c.4015C>T 
Protein Name p.Leu1339Phe 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name L1339F 
Other Details Although this substitution is rather conservative, it involves a residue conserved among species. It was found in a CBAVD patient heterozygous for ^ÐF508, but chromosome assignment was not possible. No other anomaly has been detected after scanning of almost all the CFTR coding regions and screening for 3849+10kbC->T and 1811+1.6kbA->G. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details L1339F was found in a male CBAVD patient also carrying deltaF508 on the other allele. (pers. corr. Girodon) 
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011