Mutation Details for c.3468G>T

cDNA Name c.3468G>T 
Protein Name p.Leu1156Phe 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name L1156F 
Other Details A new substitution was detected in the CFTR by DGGE and identified by direct sequencing. The defect is G to T change at nucleotide 3599 in exon 18 which would lead to an leucine to phenylalanine replacement in the protien sequence at residue 1156(L1156F). This mutation has been found in an adult, Japanese healthy female who was studied for couple's infertility. 
Contributors Angius A, Stasi M., Becchetti T., Furbetta M.   2007-06-12
Institute Pediatria, Laboratorio di Genetica Moleculare, Universita degli Studi di Perugia, Italy 
Submitted Phenotype Details  

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011