Mutation Details for c.1505T>C

cDNA Name c.1505T>C 
Protein Name p.Ile502Thr 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name I502T 
Other Details This substitution abolishes an MseI site. The french CF patient is homozygous for this misense mutation. These are the only ones out of 1460 CF chromosomes screened. 
Contributors Chevalier-Porst F, Bozon D   1998-07-13
Institute Biochimie, Bat D, Hopital Debrousse, Lyon, France 
Submitted Phenotype Details This individual (F) is 40y. No clinical inforation is available about this woman. She is homozygous for I502T. (Pers. corr. Bozon) 
Reference Chevalier-Porst & Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011