Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.262_263delTT

cDNA Name	c.262_263delTT
Protein Name	p.Leu88IlefsX22
Exon or Intron	exon 3
Legacy Exon or Intron	exon 3
Legacy Name	394delTT
Other Details	This mutation was first detected by SSCP analysis and by heteroduplexes on PAGE, the identified by direct sequencing. This 2-bp deletion leads to a chain termination codon downstream in exon 4. It was present in one CF chromosome only, in a patient from southern France (98 chromosomes analyzed).
Contributors	Claustres M, Kjellberg P, Desgeorges M 1992-05-12
Institute	Laboratoire de Biochimie Genetique Montpellier, France
Phenotype Information	CFTR2
Reference	Claustres et al. 1993; Schwarz et al. 1994

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.

Estivill X, Bancells C, Ramos C Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. 1997;10(2):135-54

Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, Ramsay M The molecular basis of cystic fibrosis in South Africa. 2001 001;59(1):37-41

Kere J, Estivill X, Chillon M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A Cystic fibrosis in a low-incidence population: two major mutations in Finland. 1994 002;93(2):162-6

Messiaen L, Van Loon C, Rossau R, De Canck I, De Baets F, Robbrecht E, De Paepe A Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT. 1997;10(3):236-8

Romey MC, Tuffery S, Desgeorges M, Bienvenu T, Demaille J, Claustres M Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test. 1996 009;98(3):328-32

Sazonova MA, Amosenko FA, Kapranov NI, Kalinin VN [Molecular genetic analysis of TUB18 and TUB20 intragenic polymorphism and various mutations of the CFTR gene in the Moscow region]. 1997 009;33(9):1303-7

Schaedel C, Hjelte L, de Monestrol I, Johannesson M, Kollberg H, Kornfalt R, Holmberg L Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. 1999 010;56(4):318-22

Schwartz M, Anvret M, Claustres M, Eiken HG, Eiklid K, Schaedel C, Stolpe L, Tranebjaerg L 394delTT: a Nordic cystic fibrosis mutation. 1994 002;93(2):157-61

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