|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
|
18956253 |
2008 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and is widespread among various worldwide populations.
|
22963887 |
2012 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
The Duarte galactosemia variant is caused by N314D.
|
11261429 |
2001 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
Two unusual genotypes were observed in 2 patients homozygous for the Duarte-2 N314D allele and heterozygous for a novel mutation (Q207X- N314D/N314D in a classic galactosemia and T23A- N314D/N314D in a Duarte-2 case).
|
11754113 |
2002 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
|
8112740 |
1994 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
|
25592817 |
2015 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
|
8741038 |
1996 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
|
23022339 |
2012 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Molecular characterization of the H319Q galactosemia mutation.
|
8499924 |
1993 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L).
|
17876724 |
2007 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
|
1897530 |
1991 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Identification of novel mutations in classical galactosemia.
|
15841485 |
2005 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
|
9222760 |
1997 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
Our limited data set on galactosemia mutations in Japanese suggests that the N314D GALT mutation encoding the Duarte variant arose before Asian and Caucasian people diverged and that classic galactosemia mutations arose and/or accumulated after the divergence of Asian and Caucasian populations.
|
7550229 |
1995 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
We screened a large population for the Q188R and N314D sequence changes to investigate the prevalence of Q188R in G/G galactosemia, the effect of homozygosity for Q188R on outcome, and the prevalence and biochemical phenotype of the N314D sequence change.
|
7671959 |
1995 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
|
7887416 |
1995 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
|
2011574 |
1991 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
|
1610789 |
1992 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability.
|
9012409 |
1997 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
In summary, galactosemia is a heterogeneous disorder at the molecular level, and mutation N314D, appears to be an ancient genetic variant of the GALT gene.Hum Mutat 15:206, 2000.
|
10649501 |
2000 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Mutational spectrum of classical galactosaemia in Spain and Portugal.
|
17041746 |
2006 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
|
22461411 |
2012 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2).
|
12521227 |
2002 |