Mutation Details for c.890G>A

cDNA Name c.890G>A 
Protein Name p.Arg297Gln 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R297Q 
Other Details This charge from a basic to an uncharged amino acid is probably consistent with disease and the mutation occurs at a CG dinucleotide, a known mutation hot spot. This mutation was detected in 2 sibs with CF and is associated with an X2 K1 haplotype, the other mutation in this family is also on a X2 K1 haplotype and is undefined. In the original report, R297Q was not detected in a further 54 CF chromosomes with an unidefined mutations and 50 normal chromosomes, all samples were of Northern Irish origin. Dubourg argued that R297Q is a rare polymorphism rather than a deleterious mutation as usually reported. The first supportive evidence came from a family where R297Q was associated with two of the most severe molecular defects DF508 or N1303K on healthy subjects (DORVAL, JEZEQUEL, CHAUVEL, DUBOURG et al. (1995) Human Mutation, 6 : 334-335). More recently, Dubourg et al. identified the same aminoacid change (R297Q) in association with the 574delA mutation in an healthy subject. (Christèle DUBOURG, Laboratoire de GENETIQUE MOLECULAIRE, CHRU PONTCHAILLOU, 35033 RENNES Cedex FRANCE; Tel :; Fax :; E-mail : ) 
Contributors Graham CA, Hill AJM, Goon PKC, Nevin NC Cutting GR, Curristan S   1990-12-28
Institute Belfast City Hospital Belfast, Ireland Johns Hopkins Hospital Baltimore, MD, USA 
Submitted Phenotype Details Patient presented at 11 years of age.Patient is a compound heterozygote of the F508del and 2512delG mutations.No other sequence changes were found after sequencing the entire coding region of the gene. (Bulman M, Brownsell E, Schwarz MJ Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England) 2008-07-24 
Reference Graham et al. 1991  

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The Database was last updated at Apr 25, 2011