Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.115C>T

cDNA Name	c.115C>T
Protein Name	p.Gln39X
Exon or Intron	exon 2
Legacy Exon or Intron	exon 2
Legacy Name	Q39X
Other Details	The mutation was discovered on one Caucasian CF chromosome out of 26 American black and 32 Caucasian CF chromosomes examined. The patient who carries this mutation has the exon 12 mutation Y563N on his other chromosome. The patient was 18 years old at the time of DNA collection and is of Irish/German descent. The Q39X mutation is associated with the haplotype 2-2-2-1. This mutation was detected by direct sequencing.
Contributors	Cutting GR, Curristin S 1990-07-30
Institute	Johns Hopkins Hospital Baltimore, MD, USA
Phenotype Information	CFTR2
Reference	Cutting et al. 1992

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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.

Bertolini S, Simone ML, Pes GM, Ghisellini M, Rolleri M, Bellocchio A, Elicio N, Masturzo P, Calandra S Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)). 2000 002;57(2):140-7

Deiana L, Garuti R, Pes GM, Carru C, Errigo A, Rolleri M, Pisciotta L, Masturzo P, Cantafora A, Calandra S, Bertolini S Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia. 2000 001;20(1):236-43

Will K, Dork T, Stuhrmann M, von der Hardt H, Ellemunter H, Tummler B, Schmidtke J Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. 1995;5(3):210-20

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The Database was last updated at Apr 25, 2011