Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.1364C>A

cDNA Name	c.1364C>A
Protein Name	p.Ala455Glu
Exon or Intron	exon 10
Legacy Exon or Intron	exon 9
Legacy Name	A455E
Other Details	The 2 CF chromosomes carrying this mutation are from patients of a French-Canadian origin and they belong to haplotype group Ib. The mutation is detectable by allele-specific oligonucleotide hybridization with PCR-amplified genomic DNA sequence.
Contributors	Kerem B, Tsui LC 1990-02-09
Institute	The Hospital for Sick Children Toronto, ON, Canada
Phenotype Information	CFTR2
Reference	Kerem et al. 1990

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.

Axton RA, Brock DJ A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations. 1995;5(3):260-2

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

Collee JM, de Vries HG, Scheffer H, Halley DJ, ten Kate LP Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country. 1998 005;102(5):587-90

De Braekeleer M, Allard C, Leblanc JP, Aubin G, Simard F Genetic determinants of Pseudomonas aeruginosa colonization in cystic fibrosis patients in Canada. 1998 004;17(4):269-71

De Braekeleer M, Allard C, Leblanc JP, Aubin G, Simard F Correlation of sweat chloride concentration with genotypes in cystic fibrosis patients in Saguenay Lac-Saint-Jean, Quebec, Canada. 1998 002;31(1):33-6

De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation. 1997 012;101(2):208-11

De Braekeleer M, Daigneault J, Allard C, Simard F, Aubin G Genealogy and geographical distribution of CFTR mutations in Saguenay Lac-Saint-Jean (Quebec, Canada). 1996 009-010;23(5):345-52

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

Fulmer SB, Schwiebert EM, Morales MM, Guggino WB, Cutting GR Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. 1995 007 18;92(15):6832-6

Gan KH, Veeze HJ, van den Ouweland AM, Halley DJ, Scheffer H, van der Hout A, Overbeek SE, de Jongste JC, Bakker W, Heijerman HG A cystic fibrosis mutation associated with mild lung disease. 1995 007 13;333(2):95-9

Gilfillan A, Warner JP, Kirk JM, Marshall T, Greening A, Ho LP, Hargreave T, Stack B, McIntyre D, Davidson R, Dean JC, Middleton W, Brock DJ P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. 1998 002;35(2):122-5

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

Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram CR, Kulozik AE The spectrum of CFTR mutations in south-west German cystic fibrosis patients. 1992 011;90(3):267-9

McNicholas CM, Nason MW, Guggino WB, Schwiebert EM, Hebert SC, Giebisch G, Egan ME A functional CFTR-NBF1 is required for ROMK2-CFTR interaction. 1997 011;273(5 Pt 2):F843-8

Ostedgaard LS, Zeiher B, Welsh MJ Processing of CFTR bearing the P574H mutation differs from wild-type and deltaF508-CFTR. 1999 007;112 ( Pt 13):2091-8

Rozen R, De Braekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, Aubin G, Simard F, Fujiwara TM, Morgan K Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. 1992 002 1;42(3):360-4

Sheppard DN, Ostedgaard LS, Winter MC, Welsh MJ Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency. 1995 003 1;14(5):876-83

Shrimpton AE, McIntosh I, Brock DJ The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling. 1991 005;28(5):317-21

Strasberg PM, Noreau D, McGlynn-Steele L, Koultchitski G, Ray PN PCR-based test for two cystic fibrosis mutations (A455E, 711 + 1 G-->T) common among French Canadians. 1997 006;43(6 Pt 1):1083-4

Tuerlings JH, Mol B, Kremer JA, Looman M, Meuleman EJ, te Meerman GJ, Buys CH, Merkus HM, Scheffer H Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection. 1998 005;69(5):899-903

Van Oene M, Lukacs GL, Rommens JM Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator. 2000 006 30;275(26):19577-84

Walker LC, Venglarik CJ, Aubin G, Weatherly MR, McCarty NA, Lesnick B, Ruiz F, Clancy JP, Sorscher EJ Relationship between airway ion transport and a mild pulmonary disease mutation in CFTR. 1997 005;155(5):1684-9

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

de Vries HG, van der Meulen MA, Rozen R, Halley DJ, Scheffer H, ten Kate LP, Buys CH, te Meerman GJ Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations. 1996 009;98(3):304-9

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