Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3808G>A

cDNA Name	c.3808G>A
Protein Name	p.Asp1270Asn
Exon or Intron	exon 23
Legacy Exon or Intron	exon 20
Legacy Name	D1270N
Other Details	The patient that carries the D1270N is an otherwise healthy male wth congenital absence of the vas deferens, an autosomal recessive disorder causing male aterility. The patient also carries an [delta]F508 mutation on the other chromosome. We did not find D1270N in iver 100 CF patients or in 91 fertile CF-carrier males.
Contributors	Dean M, Gerrard B, White MB, Stewart C, Amos J 1991-08-10
Institute	National Institutes of Health Frederick, MD, USA
Phenotype Information	CFTR2
Reference	Dean et al. 1991

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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.

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

Fanen P, Clain J, Labarthe R, Hulin P, Girodon E, Pagesy P, Goossens M, Edelman A Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis. 1999 006 11;452(3):371-4

Oates RD, Amos JA Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality. 1993;11(2):82-8

Padoa C, Goldman A, Jenkins T, Ramsay M Cystic fibrosis carrier frequencies in populations of African origin. 1999 001;36(1):41-4

Ravnik-Glavac M, Dean M, Glavac D Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. 2000;439(3 Suppl):R53-5

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The Database was last updated at Apr 25, 2011