|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This short pilot study in four patients homozygous for the p.Q188R/p.Q188R mutation reveals that arginine has no potential therapeutic role for galactosemia patients homozygous for the p.Q188R mutation.
|
30477550 |
2018 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
|
23924834 |
2013 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Only one galactosemia patient carried Q188R mutation that was in homozygous state.
|
22963887 |
2012 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Classical galactosaemia is relatively common in Ireland due to a high carrier rate of the Q188R GALT mutation.
|
19418241 |
2009 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Mutation p.Q188R was found to be the most common molecular defect among caucasian classical galactosaemia patients.
|
17041746 |
2006 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers.
|
15689161 |
2005 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The Q188R mutation accounts for 60-70% of classical galactosemia alleles in the Caucasian population.
|
12521227 |
2002 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Based upon the gene frequency of the Q188R mutation in the White population, the birth incidence of classic galactosemia is estimated at one patient per 47,000 in the White population.
|
11511927 |
2001 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In humans, the point variant Q188R accounts for 60% of galactosemia cases.
|
9772178 |
1998 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene.
|
9222760 |
1997 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Galactosemia patients without the Q188R mutation have a frequency of the SacI polymorphism similar to normal controls suggesting that several different galactosemia mutations must be present in them.
|
7868133 |
1995 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We found that the Q188R mutation has a prevalence of 62% in a predominately Caucasian population of 107 patients with G/G galactosemia.
|
7671959 |
1995 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A prevalent mutation (Q188R) is known to cause classic galactosemia (G/G).
|
8198125 |
1994 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Possession of GALT polymorphisms previously linked with low GALT activity, including the Q188R mutation of classic galactosemia or N314D mutation of the Duarte galactosemia variant, was associated with significantly higher FSH, even in the heterozygous state.
|
7962282 |
1994 |
|
rs2070074
|
|
|
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 |
|
rs2070074
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2).
|
12521227 |
2002 |
|
rs2070074
|
|
|
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 |
|
rs2070074
|
|
|
0.890 |
GeneticVariation |
BEFREE |
The Duarte galactosemia variant is caused by N314D.
|
11261429 |
2001 |
|
rs2070074
|
|
|
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 |
|
rs2070074
|
|
|
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 |
|
rs2070074
|
|
|
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 |
|
rs2070074
|
|
|
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 |
|
rs2070074
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Possession of GALT polymorphisms previously linked with low GALT activity, including the Q188R mutation of classic galactosemia or N314D mutation of the Duarte galactosemia variant, was associated with significantly higher FSH, even in the heterozygous state.
|
7962282 |
1994 |
|
rs111033690
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Classical galactosemia is frequently associated with S135L, Q188R and K285N mutations in the GALT gene.
|
22963887 |
2012 |
|
rs111033690
|
|
|
0.850 |
GeneticVariation |
BEFREE |
In the black population, S135L accounts for 62% of the alleles causing galactosemia and is associated with good outcomes.
|
11261429 |
2001 |