Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.2399C>G

cDNA Name	c.2399C>G
Protein Name	p.Ala800Gly
Exon or Intron	exon 14
Legacy Exon or Intron	exon 13
Legacy Name	A800G
Other Details	This mutation was identified by DGGE and direct sequencing. This patient is an infertile male with CBAVD.
Contributors	Ferec C, Quere I, Verlingue C, Audrezet MP< Raguenes O, Guillermit H, Mercier B 1993-06-29
Institute	Centre de Transfusion Sanguine et de Biogenetique Brest, France
Submitted Phenotype Details	The mutation was identified in a male patient with CBAVD. (Vankeerberghen et al.,1998 and pers.corr. Ferec)
Reference	Mercier et al. 1995

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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.

Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 1995 001;56(1):272-7

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

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The Database was last updated at Apr 25, 2011