Mutation Details for c.1759T>A

cDNA Name c.1759T>A 
Protein Name p.Phe587Ile 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name F587I 
Other Details The nucleotide change was found by DGGE followed by sequencing of both strands. This mutation was identified in an Italian CF patient (Puglia region, Southern Italy). 
Contributors Polizzi A., Santostasi T., Manca A., Logrillo V.P. and Rigillo N.   2004-06-16
Institute Dipartimento di Biomedicina dellEtˆ Evolutiva-Laboratorio Fibrosi Cistica-Policlinico-Universitˆ degli Studi di Bari- Bari-ITALY  
Submitted Phenotype Details The patient is an infertile male with CBAVD (40 years old) and sweat cloride 82mEq/L. This patient has [delta]F508 mutation on the other chromosome and he is otherwise asymptomatic. (pers.corr.Polizzi) 

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The Database was last updated at Apr 25, 2011