Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.443T>C

cDNA Name	c.443T>C
Protein Name	p.Ile148Thr
Exon or Intron	exon 4
Legacy Exon or Intron	exon 4
Legacy Name	I148T
Other Details	This mutation was found in only one CF patient with PI on his maternal chromosome; the change was not found in 81 normal chromosomes and 125 other CF chromosomes.
Contributors	Rininsland F, Bozon D, Tsui LC 1990-12-10
Institute	The Hospital for Sick Children Toronto, ON, Canada
Phenotype Information	CFTR2
Reference	Bozon 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.

Bayleran JK, Yan H, Hopper CA, Simpson EM Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry. 1996 008;98(2):207-9

Bozon D, Zielenski J, Rininsland F, Tsui LC Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G. 1994;3(3):330-2

Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. 1999 007;45(7):957-62

Castaldo G, Rippa E, Raia V, Salvatore D, Massa C, de Ritis G, Salvatore F Clinical features of cystic fibrosis patients with rare genotypes. 1996 001;33(1):73-6

Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes. 1992;1(4):314-9

Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P Genetic determination of exocrine pancreatic function in cystic fibrosis. 1992 006;50(6):1178-84

Seibert FS, Jia Y, Mathews CJ, Hanrahan JW, Riordan JR, Loo TW, Clarke DM Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. 1997 009 30;36(39):11966-74

Vouk K, Strmecki L, Liovic M, Kopriva S, Micetic-Turk D, Komel R Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra. 2000;439(3 Suppl):R63-5

de Braekeleer M, Mari G, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, Ferec C Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada). 1997;40(4):205-8

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