Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.617T>G

cDNA Name	c.617T>G
Protein Name	p.Leu206Trp
Exon or Intron	exon 6
Legacy Exon or Intron	exon 6a
Legacy Name	L206W
Other Details	This mutation was identified in two unrelated CF patient from Southern France.
Contributors	Claustres M, Desgeorges M, Kjellberg P 1992-04-28
Institute	Institut de Biologie Montpellier, France
Phenotype Information	CFTR2
Reference	Claustres 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.

Bernardino AL, Ferri A, Passos-Bueno MR, Kim CE, Nakaie CM, Gomes CE, Damaceno N, Zatz M Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 2000;4(1):69-74

Casals T, Bassas L, Ruiz-Romero J, Chillon M, Gimenez J, Ramos MD, Tapia G, Narvaez H, Nunes V, Estivill X Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. 1995 002;95(2):205-11

Claustres M, Desgeorges M, Moine P, Morral N, Estivill X CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. 1996 009;98(3):336-44

Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 1995 012;96(6):717-20

Rozen R, Ferreira-Rajabi L, Robb L, Colman N L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. 1995 007 3;57(3):437-9

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The Database was last updated at Apr 25, 2011