Mutation Details for c.1518C>G

cDNA Name c.1518C>G 
Protein Name p.Ile506Met 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1650C/G 
Other Details NL#50: Although this mutation was idenitified in a CF patient carrying the [delta]F508 mutation on the other chromosome, we think that this is probably a rare polymorphism (1/1000 CF chromosomes) as there is a methionine at this position in 2 other related proteins: maltose and ribose transporters of E.Coli. 
Contributors ChevalierF, Bozon D   1992-10-24
Institute Hopitaux de Lyon 
Submitted Phenotype Details 1650C/g was found in a male also carryind the deltaF508, born 1976 CF wasn't confirmed in the patient. (pers. corr. Bozon) 
Reference Chavelier & Bozon (NL#50) 

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The Database was last updated at Apr 25, 2011