Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3700A>G

cDNA Name	c.3700A>G
Protein Name	p.Ile1234Val
Exon or Intron	exon 22
Legacy Exon or Intron	exon 19
Legacy Name	I1234V
Other Details	This mutation was detected through the formation of an unusual DdeI restriction pattern of PCR products obtained with primers 19-i5/19-i3. Direct sequencing of PCR products proved a A->G subsitution at nucleotide 3833. This results in an isoleucine to valine substitution at the codon 1234 and creates a new DdeI restriction site. The patient is carrying a [delta]F508 mutation on the other CF chromosome. This nucleotide change was not found in 120 non-[delta]F508 CF chromosomes.
Contributors	Claustres M, Kjellberg P, Desgeorges M, Dean M 1991-07-24
Institute	null
Phenotype Information	CFTR2
Reference	Claustres et al. 1992b

To check if there are any papers published about this mutation/variant on PubMed, please click here.

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.

Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. 1999 003;19(1):69-73

Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations. 1992;1(4):310-3

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011