Mutation Details for c.263T>C

cDNA Name c.263T>C 
Protein Name p.Leu88Ser 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name L88S 
Other Details The mutation was detected by DNA sequencing and is a single base substitution from a thymine to a cytosine at position 395 of the CFTR gene. This results in the replacement of a leucine residue by a serine in codon 88. The patient has [delta]F508 on her other CF chromosome. 
Contributors Malone G, Schwarz M, Super M   1992-11-10
Institute Royal Manchester Children's Hospital Pendlebury, England 
Submitted Phenotype Details The CF patient carries DelF508 on the other allele. (pers.corr.Schwarz) 
Reference Malone et al. (NL#51) 

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The Database was last updated at Apr 25, 2011