Mutation Details for c.254G>A

cDNA Name c.254G>A 
Protein Name p.Gly85Glu 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name G85E 
Other Details This mutation was detected in family #26, a French Canadian family classified as PI. This Gly to Glu change is associated with a group IIb haplotype. The mutation destroys a Hinfl site. The PCR product derived from the 3i-5 and 3i-3 primers is cleaved by this enzyme into 3 fragments, 172, 105, and 32 bp, respectively, for the normal sequence; a fragment of 277 bp would be present for the mutant sequence. They analyzed 54 CF chromosomes, 8 from group II and 50 normal chromosomes, 44 from group II and did not find another eample of G85E. 
Contributors Zielenski J, Kerem B, Bozon D, Tsui LC   1990-05-19
Institute The Hospital For Sick Children Toronto, ON, Canada 
Phenotype Information CFTR2
Reference Zielenski et al. 1991b 

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Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011