Mutation Details for c.3909C>G

cDNA Name c.3909C>G 
Protein Name p.Asn1303Lys 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name N1303K 
Other Details The substitution was found in three adult British Caucasian patients all of whom are heterozygous for the mutation. Two of the patients are pancreatic sufficient with mild to moderate lung disease, and their other chromosomes carry an, as yet, uncharacterized mutation. In all patients the substitution appears to be associated with the haplotype 1,2,2 at XV-2C, KM19 and pMP6d-9 respectively. The third patient has the 551 mutation on the other chromosome, is pancreatic insufficient and died in respiratory failure at the age of 22. 
Contributors Osborne L, Santis G, Knight R, Hodson ME   1990-07-23
Institute National Heart and Lung Institute London, England 
Phenotype Information CFTR2
Reference Osborne et al. 1991 

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The Database was last updated at Apr 25, 2011