Mutation Details for c.1037T>C

cDNA Name c.1037T>C 
Protein Name p.Leu346Pro 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name L346P 
Other Details  
Contributors Constantinou-Deltas CD   1993-07-05
Institute The Cyprus Institute of Neurology and Genetics 
Submitted Phenotype Details Two Cypriot CF patients with mild phenotype: failure to thrive, chest infections and electrolyte disturbances, although the patients carried deltaF508 and 1677delTA respectively on the other allele, which are usually associated with severe CF phenotype.(Boteva et al. 1994) L346P might be a putative mutation responsible for mild symptomatology of CF patients, resulting in misdiagnosis of atypical patients. Previously found in a severely affected Italian patient, M348K was found in a symptomless 48-year old individual also carrying L346P on the other allele(Constantinous Deltas et al. 1996) 
Reference Constantinou (NL #58) 

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The Database was last updated at Apr 25, 2011