Mutation Details for c.340A>T

cDNA Name c.340A>T 
Protein Name p.Lys114X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name K114X 
Other Details This mutation was identified, by D-HPLC and direct DNA sequencing, on one Italian CF chromosome out of 370. The K114X mutation was seen on a chromosome with R668C and G576A. 
Contributors Bonizzato A, Nicolis E, Dechecchi C, Assael MB, Cabrini G.   2004-10-11
Institute Centro Fibrosi Cistica, Verona, Italy 
Submitted Phenotype Details The patient (male, 25 y) was diagnosed when 2 years old and presents a classic CF phenotype with PI and P. aeruginosa colonization. The other CF chromosome carries the delF508 mutation. 

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The Database was last updated at Apr 25, 2011