Mutation Details for c.2195T>G

cDNA Name c.2195T>G 
Protein Name p.Leu732X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name L732X 
Other Details This mutation (in exon 13 of the CFTR gene) was detected by SSCP analysis and identified by direct DNA sequencing. It is the substitution of a single base (T to G) at position 2327, which results in the replacement of a leucine residue by a termination codon at codon 732. The patient is a 9 year old boy whose other mutation is [delta]F508. His mother carries L732X and is half Italian and half English. We have seen this mutation once in approximately 40 non-[delta]F508 CF chromosomes so far analysed. 
Contributors Malone G, Haworth A, Schwartz M   1994-10-05
Institute Manchester Children's Hospital Manchester, UK 
Phenotype Information CFTR2
Reference Malone et al. (NL#63) 

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The Database was last updated at Apr 25, 2011