Mutation Details for c.1811C>T

cDNA Name c.1811C>T 
Protein Name p.Thr604Ile 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name T604I 
Other Details The residue 604, conserved among species, is involved here in a polar to non polar substitution. T604I was found in a male patient having a moderate form of CF with PS, and carrying [delta]F508 on the other chromosome. 
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 T604I was found along with deltaF508 on the other allele in a 35y M diagnosed at 25y, with mild-moderate pulmonary symptoms, PI and positive sweat chloride. He was diagnosed with CBAVD, nasal polyposis. (pers. corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011