rs121965044
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
|
23076989 |
2013 |
rs121965051
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
|
23076989 |
2013 |
rs386833618
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
|
23076989 |
2013 |
rs121965044
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
|
7668253 |
1995 |
rs121965044
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
|
7887415 |
1995 |
rs121965051
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
|
7887415 |
1995 |
rs121965051
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
|
7668253 |
1995 |
rs386833618
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
|
7668253 |
1995 |
rs386833618
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
|
7887415 |
1995 |
rs121965044
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
|
1612597 |
1992 |
rs121965044
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
|
1737786 |
1992 |
rs121965051
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
|
1737786 |
1992 |
rs121965051
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
|
1612597 |
1992 |
rs386833618
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
|
1737786 |
1992 |
rs386833618
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
|
1612597 |
1992 |
rs121965044
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
|
2793865 |
1989 |
rs121965051
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
|
2793865 |
1989 |
rs386833618
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
|
2793865 |
1989 |
rs121965044
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
|
3375240 |
1988 |
rs121965051
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
|
3375240 |
1988 |
rs386833618
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
|
3375240 |
1988 |
rs121965044
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121965051
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs386833618
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs121965040
|
|
|
0.720 |
GeneticVariation |
BEFREE |
R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features.
|
30957963 |
2019 |