Mutation Details for c.227_228insT

cDNA Name c.227_228insT 
Protein Name p.Trp79LeufsX32 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name 359insT 
Other Details This frameshift mutation was found in a CF patient from Southern France in Exon 3 : it is an insertion of one T between 359 and 365. This mutation was detected by DGDE, and both strands have been sequenced. 
Contributors Claustres M, Desgeorges M, Romey M-C   1994-07-28
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details 359insT was found in a5y male patient carrying deltaF508 on the other allele. He was diagnosed at 7m, is PI, had no pulmonary symptoms at 5y and has positive sweat chloride. He had meconium ileus. (pers. corr. Claustres)  
Reference Claustres et al. (NL#63) 

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The Database was last updated at Apr 25, 2011