Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.254G>A

cDNA Name	c.254G>A
Protein Name	p.Gly85Glu
Exon or Intron	exon 3
Legacy Exon or Intron	exon 3
Legacy Name	G85E
Other Details	This mutation was detected in family #26, a French Canadian family classified as PI. This Gly to Glu change is associated with a group IIb haplotype. The mutation destroys a Hinfl site. The PCR product derived from the 3i-5 and 3i-3 primers is cleaved by this enzyme into 3 fragments, 172, 105, and 32 bp, respectively, for the normal sequence; a fragment of 277 bp would be present for the mutant sequence. They analyzed 54 CF chromosomes, 8 from group II and 50 normal chromosomes, 44 from group II and did not find another eample of G85E.
Contributors	Zielenski J, Kerem B, Bozon D, Tsui LC 1990-05-19
Institute	The Hospital For Sick Children Toronto, ON, Canada
Phenotype Information	CFTR2
Reference	Zielenski et al. 1991b

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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.

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

Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population. 1996 003;16(3):215-22

Chalkley G, Harris A A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease. 1991 012;28(12):875-7

Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B Screening of CFTR mutations in an isolated population: identification of carriers and patients. 1998 003-004;6(2):181-4

Claustres M, Desgeorges M, Moine P, Morral N, Estivill X CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. 1996 009;98(3):336-44

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

De Braekeleer M, Daigneault J, Aubin G, Simard F, Allard C, Fujiwara MT, Morgan K Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations. 1995 002;47(2):110-1

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

Friedman KJ, Blalock ML, Heim RA, Silverman LM Relatively high prevalence of the CFTR mutations, G85E and 1154insTC. 1995;6(1):95-6

Friedman KJ, Heim RA, Knowles MR, Silverman LM Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. 1997;10(2):108-15

Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, Yahav Y, Szeinberg A, Hiba O, Branski D, Corey M, Kerem B A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype. 1997 009;100(3):E5

Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D Cystic fibrosis mutations in Israeli Arab patients. 1999 012;14(6):543

Storbakk N, Oxender DL, el-Gewely MR Intragenic complementation between Escherichia coli trp repressors with different defects in the tryptophan-binding pocket. 1992 008 1;117(1):23-9

Vazquez C, Antinolo G, Casals T, Dapena J, Elorz J, Seculi JL, Sirvent J, Cabanas R, Soler C, Estivill X Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. 1996 010;33(10):820-2

Wakabayashi S, Yoshida H, Shigekiyo T, Koide T Intracellular degradation of histidine-rich glycoprotein mutants: tokushima-1 and 2 mutants are degraded by different proteolytic systems. 2000 008;128(2):201-6

Wilschanski M, Rivlin J, Cohen S, Augarten A, Blau H, Aviram M, Bentur L, Springer C, Vila Y, Branski D, Kerem B, Kerem E Clinical and genetic risk factors for cystic fibrosis-related liver disease. 1999 001;103(1):52-7

Xiong X, Bragin A, Widdicombe JH, Cohn J, Skach WR Structural cues involved in endoplasmic reticulum degradation of G85E and G91R mutant cystic fibrosis transmembrane conductance regulator. 1997 009 1;100(5):1079-88

Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 1991 005;10(1):229-35

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The Database was last updated at Apr 25, 2011