Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.2464G>A

cDNA Name	c.2464G>A
Protein Name	p.Glu822Lys
Exon or Intron	exon 14
Legacy Exon or Intron	exon 13
Legacy Name	E822K
Other Details	A nucleotide change, G->A was observed in exon 13 at position 2596 leading to E822K. The patient is 13 years old, and pancreatic insufficient. The other mutation is still unknown. This mutation was found once among 28 Belgian CF chromosomes.
Contributors	Lissens W, Bonduelle M, Liebaers I, Ferec C, Quere I, Mercier B, Audrezet MP 1992-05-12
Institute	Centre de Transfusion Sanguine et de Biogenetique Brest, France
Submitted Phenotype Details	The mutation was found in a Belgian PI CF patient. (pers. corr. Ferec)
Reference	Mercier et al. 1993a

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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.

Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, Nilius B, Cuppens H Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 1998 010;7(11):1761-9

Wei L, Vankeerberghen A, Cuppens H, Droogmans G, Cassiman JJ, Nilius B Phosphorylation site independent single R-domain mutations affect CFTR channel activity. 1998 011 13;439(1-2):121-6

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The Database was last updated at Apr 25, 2011