Mutation Details for c.2754T>G

cDNA Name c.2754T>G 
Protein Name p.Ile918Met 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name I918M 
Other Details This substitution, located in a transmembrane domain and which seems conservative, was found in cis with F1052V in a CBAVD patient carrying [delta]F508 on the other chromosome. F1052V was initially described in a CF patient but it is not known if the patient carried also I918M. Functional studies could demonstrate the non deleterious or deleterious effect of the mutation. I918M creates a RsaI or NlaIII restriction site. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details I918M was found in a 36y M, diagnosed at 29y with CBAVD; he also had rhinosinusitis. I918M in cis with F1052V and deltaF508 was on the other allele. (pers.corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011