Mutation Details for c.1643T>A

cDNA Name c.1643T>A 
Protein Name p.Leu548Gln 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name L548Q 
Other Details  
Contributors E. Girodon, P. Fanen, C. Costa, F. Niel, M. Goossens   2004-01-21
Institute Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France 
Submitted Phenotype Details This mutation was identified in a Japanese partner of a CF carrier bearing 3849+10kbC>T. It occurs in the very conservative motif "LSGG" of NBF1, signature of the ABC proteins. It was thus considered as a highly likely CF mutation. The couple requested PND and the fetus was compound heterozygote. Fetal analysis was however not conclusive for CF, but the analysis was hampered by pancreas lysis. In other respects, pancreatic anomalies characteristic for CF may not be observed when the 3849+10kbC>T is present. 

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The Database was last updated at Apr 25, 2011