Mutation Details for c.3700A>G

cDNA Name c.3700A>G 
Protein Name p.Ile1234Val 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name I1234V 
Other Details This mutation was detected through the formation of an unusual DdeI restriction pattern of PCR products obtained with primers 19-i5/19-i3. Direct sequencing of PCR products proved a A->G subsitution at nucleotide 3833. This results in an isoleucine to valine substitution at the codon 1234 and creates a new DdeI restriction site. The patient is carrying a [delta]F508 mutation on the other CF chromosome. This nucleotide change was not found in 120 non-[delta]F508 CF chromosomes. 
Contributors Claustres M, Kjellberg P, Desgeorges M, Dean M   1991-07-24
Institute null 
Phenotype Information CFTR2
Reference Claustres et al. 1992b 

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The Database was last updated at Apr 25, 2011