Mutation Details for c.2353C>T

cDNA Name c.2353C>T 
Protein Name p.Arg785X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R785X 
Other Details A nonsense mutation was foun in exon 13 of the CFTR gene. The mutation is a C->T transition at residue 2485 chnaging arginine to stop (R785X). No recognizable restriction site is altered by this mutation. R785X was detected by SSCP.heteroduplex anaylsis and was observed once in our panel of English CF patients. 
Contributors Wallace A, Tassabehji M   1994-06-11
Institute St. Mary's Hospital Manchester, UK  
Submitted Phenotype Details  
Reference Wallace & Tassabehji (NL#62) 

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The Database was last updated at Apr 25, 2011