Mutation Details for c.4147_4148insA

cDNA Name c.4147_4148insA 
Protein Name p.Ile1383AsnfsX3 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name 4279insA 
Other Details A new frameshift mutation was found in exon 23 of CFTR. The mutation is an inserion of a single A base after residue 4279 (4279insA), a premature stop codon is created, commencing 5bp downstream of this insertion. 4279insA was detected by SSCP/heteroduplex analysis followed by direct sequencing and we observed this mutation only once in our panel of English CF patients. Interestingly we observed this mutation on a CFTR allele with the 297-3c->T putative splice mutation reported by Bienvenu et al (NL #55). As this is the only patient we have with either of these mutations and we have not carried out any expression work we are unsure as to whether this is a recurrent mutation or means that 297-3c->T is a polymorphism.  
Contributors Wallace A, Tassabehji M   1994-01-21
Institute St. Mary's Hospital Manchester, UK 
Submitted Phenotype Details  
Reference Wallace & Tassabehji (NL#61) 

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The Database was last updated at Apr 25, 2011