Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.274G>A

cDNA Name	c.274G>A
Protein Name	p.Glu92Lys
Exon or Intron	exon 4
Legacy Exon or Intron	exon 4
Legacy Name	E92K
Other Details	E92K was detected in one Spanish chromosome out of 100 non-[delta]F508 chromosomes studied. The mutation on the other chromosome of this patient is unknown, but has the haplotype C/D. The mutation has been detected by SSCP analysis of exon 4 PCR product using intronic primers. Th ebase change has been confirmed after recovering the mutated strand from the SSCP gel, purified and directly sequenced using an automatic sequencer.
Contributors	Chillon M, Nunes V, Estivill X 1991-07-09
Institute	Cancer Research Institute Barcelona, Spain
Phenotype Information	CFTR2
Reference	Nunes et al. 1993

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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.

Binda C, Coda A, Aliverti A, Zanetti G, Mattevi A Structure of the mutant E92K of [2Fe-2S] ferredoxin I from Spinacia oleracea at 1.7 A resolution. 1998 011 1;54(2 ( Pt 6)):1353-8

Briant L, Signoret N, Gaubin M, Robert-Hebmann V, Zhang X, Murali R, Greene MI, Piatier-Tonneau D, Devaux C Transduction of activation signal that follows HIV-1 binding to CD4 and CD4 dimerization involves the immunoglobulin CDR3-like region in domain 1 of CD4. 1997 008 1;272(31):19441-50

Goodenough PW, Bhat KM, Collins ME, Perry BN, Pickersgill RW, Sumner IG, Warwicker J, de Haas GH, Verheij HM Changes in activity of porcine phospholipase A2 brought about by charge engineering of a major structural element to alter stability. 1991 012;4(8):929-34

Jacquot JP, Stein M, Suzuki A, Liottet S, Sandoz G, Miginiac-Maslow M Residue Glu-91 of Chlamydomonas reinhardtii ferredoxin is essential for electron transfer to ferredoxin-thioredoxin reductase. 1997 001 6;400(3):293-6

Lu D, Vage DI, Cone RD A ligand-mimetic model for constitutive activation of the melanocortin-1 receptor. 1998 004;12(4):592-604

Morral N, Nunes V, Casals T, Chillon M, Gimenez J, Bertranpetit J, Estivill X Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. 1993 007;2(7):1015-22

Nunes V, Chillon M, Dork T, Tummler B, Casals T, Estivill X A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. 1993 001;2(1):79-80

Piubelli L, Zanetti G, Bosshard HR Recombinant wild-type and mutant complexes of ferredoxin and ferredoxin:NADP+ reductase studied by isothermal titration calorimetry. 1997 007;378(7):715-8

Vage DI, Klungland H, Lu D, Cone RD Molecular and pharmacological characterization of dominant black coat color in sheep. 1999 001;10(1):39-43

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The Database was last updated at Apr 25, 2011