rs121965040
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.720
GeneticVariation
UNIPROT
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
23076989
2013
rs121965040
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.720
GeneticVariation
UNIPROT
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
7668253
1995
rs121965040
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.720
GeneticVariation
UNIPROT
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
7887415
1995
rs121965040
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.720
GeneticVariation
UNIPROT
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
1737786
1992
rs121965040
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.720
GeneticVariation
UNIPROT
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
1612597
1992
rs121965040
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.720
GeneticVariation
BEFREE
L402P was not present in 18 non-Finnish GA patients but R180T was found in an American GA patient.
2492100
1989
rs121965040
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.720
GeneticVariation
UNIPROT
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
2793865
1989
rs121965040
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.720
GeneticVariation
UNIPROT
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
3375240
1988
rs121965047
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
BEFREE
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina .
30251682
2018
rs121965047
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Hyperornithinemia
0.710
GeneticVariation
BEFREE
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.
30251682
2018
rs121965043
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
23076989
2013
rs121965047
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
23076989
2013
rs121965059
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
23076989
2013
rs386833621
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
23076989
2013
rs386833616
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Hyperornithinemia
0.710
GeneticVariation
BEFREE
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D .
15750329
2005
rs121965043
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Hyperornithinemia
0.710
GeneticVariation
BEFREE
Thirty-five Finnish subjects (18 men) with GA with a mean age of 33 years (range, 5-74 years) carrying the Finnish founder mutation L402P .
11297489
2001
rs121965043
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
BEFREE
Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.
11297489
2001
rs386833621
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
BEFREE
Two clinical subtypes of gyrate atrophy (GA ) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA . We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo and in vitro studies.
10617919
1999
rs121965043
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
7668253
1995
rs121965043
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
7887415
1995
rs121965047
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
7887415
1995
rs121965047
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
7668253
1995
rs121965059
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
In extracts of fibroblasts from a second GA patient homozygous for A226V and from Chinese hamster ovary cells expressing an OAT-cDNA-containing A226V , we found that OAT activity increased from undetectable levels to approximately 10% of normal when the concentration of pyridoxal phosphate was increased from 50 to 600 microM.
7887415
1995
rs121965059
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
UNIPROT
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
7668253
1995
rs121965059
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
0.710
GeneticVariation
BEFREE
In extracts of fibroblasts from a second GA patient homozygous for A226V and from Chinese hamster ovary cells expressing an OAT-cDNA-containing A226V, we found that OAT activity increased from undetectable levels to approximately 10% of normal when the concentration of pyridoxal phosphate was increased from 50 to 600 microM.
7887415
1995