Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.445G>A

cDNA Name	c.445G>A
Protein Name	p.Gly149Arg
Exon or Intron	exon 4
Legacy Exon or Intron	exon 4
Legacy Name	G149R
Other Details	This possible mutation was identified in an infertile man (congenital bilateral absence of vas deferens).
Contributors	Ferec C, Quere I, Audrezet MP, Verlingue C, Raguenes O, Guillermit H, Mercier B 1993-02-19
Institute	Centre de Transfusion Sanguine et de Biogenetique Brest, France
Submitted Phenotype Details	CBAVD patient(Mercier et all 1995 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

Romstad A, Kalkanoglu HS, Coskun T, Demirkol M, Tokatli A, Dursun A, Baykal T, Ozalp I, Guldberg P, Guttler F Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 2000 012;107(6):546-53

Roth W, Deussing J, Botchkarev VA, Pauly-Evers M, Saftig P, Hafner A, Schmidt P, Schmahl W, Scherer J, Anton-Lamprecht I, Von Figura K, Paus R, Peters C Cathepsin L deficiency as molecular defect of furless: hyperproliferation of keratinocytes and pertubation of hair follicle cycling. 2000 010;14(13):2075-86

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The Database was last updated at Apr 25, 2011