Cystic Fibrosis Mutation Database: Mutation Detail

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 : 33.2.99.28.41.31; Fax : 33.2.99.28.41.85; E-mail : blayau@sunaimed.univ-rennes1.fr )
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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Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

Dorval I, Jezequel P, Chauvel B, Dubourg C, Fergelot P, Le Gall JY, Roussey M, Blayau M French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism. 1995;6(4):334-5

Scotet V, De Braekeleer M, Audrezet MP, Lode L, Verlingue C, Quere I, Mercier B, Dugueperoux I, Codet JP, Moineau MP, Parent P, Ferec C Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. 2001 001;59(1):42-7

Tebbutt SJ, Harris A, Hill DF An ovine CFTR variant as a putative cystic fibrosis causing mutation. 1996 007;33(7):623-4

Tebbutt SJ, Lakeman MB, Wilson-Wheeler JC, Hill DF Genetic variation within the ovine cystic fibrosis transmembrane conductance regulator gene. 1998 005;382(3-4):93-8

Tomschy A, Wyss M, Kostrewa D, Vogel K, Tessier M, Hofer S, Burgin H, Kronenberger A, Remy R, van Loon AP, Pasamontes L Active site residue 297 of Aspergillus niger phytase critically affects the catalytic properties. 2000 004 28;472(2-3):169-72

Yilmaz E, Erdem H, Ozguc M, Coskun T, Ozcelik U, Gocmen A, Ozalp I Study of 12 mutations in Turkish cystic fibrosis patients. 1995 005-006;45(3):175-7

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The Database was last updated at Apr 25, 2011