|
rs2070074
|
|
|
0.090 |
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
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2).
|
12521227 |
2002 |
|
rs2070074
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Duarte galactosemia variant is caused by N314D.
|
11261429 |
2001 |
|
rs2070074
|
|
|
0.090 |
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
|
|
|
0.090 |
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
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Six out of thirteen (46%) daughters and two mothers of the remaining seven daughters (29%) were carriers for the N314D mutation of GALT associated with the Duarte variant of galactosaemia as compared to 16 out of 113 general population controls (14%) who possessed at least one N314D allele.
|
9238673 |
1996 |
|
rs2070074
|
|
|
0.090 |
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
|
|
|
0.090 |
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
|
|
|
0.090 |
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 |
|
rs75391579
|
|
|
0.070 |
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
|
|
|
0.070 |
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
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Only one galactosemia patient carried Q188R mutation that was in homozygous state.
|
22963887 |
2012 |
|
rs111033690
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Non-enzymatic screening methods such as urinary reducing substances and BIA for free galactose are not reliable in S135L homozygous galactosaemia.
|
19418241 |
2009 |
|
rs75391579
|
|
|
0.070 |
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 |
|
rs111033690
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This mutation was common in black patients with galactosemia and homozygotes (S135L/S135L) had no GALT activity or protein in their erythrocytes or lymphoblasts.
|
11592823 |
2001 |
|
rs111033690
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In the black population, S135L accounts for 62% of the alleles causing galactosemia and is associated with good outcomes.
|
11261429 |
2001 |
|
rs111033690
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The S135L mutation accounts for approximately 48% of galactosaemia alleles in African Americans and has been found to account for about 91% of galactosaemia alleles in negroid South African patients which suggested that the mutation had an African origin.
|
10070616 |
1999 |
|
rs75391579
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In humans, the point variant Q188R accounts for 60% of galactosemia cases.
|
9772178 |
1998 |
|
rs111033690
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.
|
9323558 |
1997 |
|
rs111033690
|
|
|
0.070 |
GeneticVariation |
BEFREE |
A recent study found a high prevalence of a missense mutation (S135L) in the gene for galactose 1-phosphate uridyltransferase (GALT) in black children with galactosemia (J Pediatr 1996; 128:89-95).
|
9202622 |
1997 |
|
rs111033690
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients.
|
8551426 |
1996 |
|
rs75391579
|
|
|
0.070 |
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
|
|
|
0.070 |
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 |
|
rs121908047
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The V94M mutation has been associated with a very severe form of type III galactosemia.
|
23732289 |
2013 |
|
rs121908047
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, the degree of impairment was mild compared with that seen with the mutation (V94M) associated with the generalized form of epimerase deficiency galactosaemia.
|
18188677 |
2008 |