Mutation Details for c.263T>A

cDNA Name c.263T>A 
Protein Name p.Leu88X 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name L88X(T->A) 
Other Details The nucleotide change T->A at position 395 leads to L88X. This change was observed on one patient from Bulgaria. The patient, heterozygote [delta]F508, has chronic pulmonary disease and pancreatic insufficiency. 
Contributors Kalaydjieva L, Savov A Ferec C, Quere I, Audrezet MP, Mercier B   1993-01-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details L88X(T->A) was found together with G1069R in a 16 years old male patient carrying deltaF508 on the other allele, diagnosed at 4 mths of age. He is PI, has severe pulmonary symptoms and sweat chloride 63/113/93 mmol/l. The mutation was also found in 1 additional patient. (pers. corr. Savov)  
Reference Savov et al. 1994a 

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The Database was last updated at Apr 25, 2011