Mutation Details for c.1616T>C

cDNA Name c.1616T>C 
Protein Name p.Ile539Thr 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name I539T 
Other Details The above mutation was detected by DGGE with chemical clamps and characterized by direct sequencing. 
Contributors Chomel J-C, Kitzis A   1995-05-19
Institute Laboratoire de Génétique Cellulaire et Moléculaire Poitiers, France 
Submitted Phenotype Details One patient (male, 65) diagnosed at 58, has normal sweat chloride, moderate lung disease with tuberculosis, bronchietasis and Pseudomonas Aeruginosa colonization. Unknown other mutation (pers. corr. Chomel) 
Reference Chomel & Kitzis (NL#66) 

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The Database was last updated at Apr 25, 2011