PDB ID | 2BYJ | CHAIN | A |
---|---|---|---|
Protein name | ORNITHINE AMINOTRANSFERASE | ||
Uniprot Accession | P04181 | ||
The number of similar proteins | 40 | ||
The number of binding states | 3 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
36_GLY | ALA |
gnomAD chr10:126100634 |
rs140786333
|
- | 0.000310149 | - | |
51_GLY | ASP | VAR_071924 |
rs11553554
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
51_GLY | ASP |
ClinVar chr10:126100589 |
-
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
54_ASN | LYS | VAR_000565 |
rs121965048
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
55_TYR | HIS | VAR_000566 |
rs121965037
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
55_TYR | HIS |
ClinVar chr10:126100578 |
rs121965037
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
57_PRO | SER |
8.3kJPN chr10:126100572 |
-
|
- | 0.0001 | - | |
89_ASN | LYS | VAR_000567 |
rs386833602
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
89_ASN | LYS |
ClinVar chr10:126097467 |
rs386833602
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
90_GLN | GLU | VAR_015648 |
rs121965060
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
93_CYS | PHE | VAR_000568 |
rs121965038
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
93_CYS | PHE |
ClinVar chr10:126097456 |
rs121965038
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
97_ILE | THR |
8.3kJPN chr10:126097444 |
-
|
- | 0.0001 | - | |
104_GLN | ARG | VAR_071925 |
rs386833604
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
104_GLN | ARG |
ClinVar chr10:126097423 |
rs386833604
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
105_VAL | ALA |
gnomAD chr10:126097420 |
rs199957428
|
- | 0.000107399 | - | |
105_VAL | ALA |
8.3kJPN chr10:126097420 |
rs199957428
|
- | 0.0009 | - | |
121_GLY | ASP |
ClinVar chr10:126097372 |
rs386833605
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
128_THR | ILE |
8.3kJPN chr10:126097351 |
-
|
- | 0.0001 | - | |
142_GLY | GLU |
ClinVar chr10:126097206 |
rs386833610
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
154_ARG | LEU | VAR_000569 |
rs121965039
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
156_TRP | TER |
ClinVar chr10:126097163 |
-
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
158_TYR | SER |
ClinVar chr10:126097158 |
-
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
160_VAL | MET |
gnomAD chr10:126097153 |
rs148433929
|
- | 0.000206888 | - | |
166_TYR | TER |
ClinVar chr10:126097133 |
-
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
178_TRP | TER |
ClinVar chr10:126094120 |
rs267606923
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
178_TRP | TER |
ClinVar chr10:126094119 |
rs890106099
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
180_ARG | THR | VAR_000570 |
rs121965040
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
180_ARG | THR |
ClinVar chr10:126094114 |
rs121965040
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
181_THR | MET |
ClinVar chr10:126094111 |
rs386833613
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
184_ALA | THR |
ClinVar chr10:126094103 |
rs121965050
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
193_SER | ASN |
8.3kJPN chr10:126094075 |
rs779597685
|
- | 0.0001 | - | |
194_TYR | TER |
ClinVar chr10:126094071 |
-
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
199_PRO | GLN | VAR_071926 |
rs267606925
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
199_PRO | GLN |
ClinVar chr10:126094057 |
rs267606925
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
202_PRO | LEU |
gnomAD chr10:126094048 |
rs776703980
|
- | 0.000119303 | - | |
209_TYR | TER |
ClinVar chr10:126094026 |
rs121965056
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
222_PRO | SER |
8.3kJPN chr10:126092474 |
-
|
- | 0.0001 | - | |
226_ALA | VAL | VAR_000572 |
rs121965059
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
226_ALA | VAL |
ClinVar chr10:126092461 |
rs121965059
|
Pathogenic | - | Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia|Ornithine aminotransferase deficiency [MedGen:C4017305|MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
233_GLN | TER |
ClinVar chr10:126092441 |
-
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
237_GLY | ASP |
ClinVar chr10:126092428 |
rs386833616
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
241_PRO | LEU | VAR_000573 |
rs121965051
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
241_PRO | LEU |
ClinVar chr10:126092416 |
rs121965051
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency|Hyperornithinemia [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|Human Phenotype Ontology:HP:0012026,MedGen:C0599035] | |
245_TYR | CYS | VAR_000574 |
rs121965046
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
245_TYR | CYS |
ClinVar chr10:126092404 |
rs121965046
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
247_MET | THR |
gnomAD chr10:126092398 |
rs140966644
|
- | 0.00018292 | - | |
250_ARG | PRO | VAR_000575 |
rs121965052
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
250_ARG | PRO |
ClinVar chr10:126092389 |
rs121965052
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
250_ARG | TER |
ClinVar chr10:126092390 |
rs386833617
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
253_CYS | TER |
ClinVar chr10:126092379 |
-
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
266_GLN | TER |
ClinVar chr10:126091600 |
rs1951458291
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
267_THR | ILE | VAR_000576 |
rs386833618
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
267_THR | ILE |
ClinVar chr10:126091596 |
rs386833618
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
270_ALA | PRO | VAR_000577 |
rs121965041
|
LB/B | - | - | |
270_ALA | PRO |
ClinVar chr10:126091588 |
rs121965041
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
271_ARG | LYS | VAR_000578 |
rs121965042
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
271_ARG | LYS |
ClinVar chr10:126091584 |
rs121965042
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
271_ARG | LYS |
8.3kJPN chr10:126091584 |
rs121965042
|
- | 0.0001 | - | |
275_TRP | TER |
ClinVar chr10:126091572 |
rs267606924
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
292_LYS | ARG |
ClinVar chr10:126091521 |
rs1057518927
|
Likely pathogenic | - | Visual field defect [Human Phenotype Ontology:HP:0001123,MedGen:C3887875]; Optic atrophy [Human Phenotype Ontology:HP:0000648,Human Phenotype Ontology:HP:0007751,Human Phenotype Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124]; Abnormal choroid morphology [Human Phenotype Ontology:HP:0000610,MONDO:MONDO:0001898,MedGen:C4025836]; Pain|Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012531,MedGen:C0030193|MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
294_LEU | HIS |
ClinVar chr10:126091515 |
rs752974288
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
299_TYR | TER |
ClinVar chr10:126091499 |
rs121965057
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency|Retinal dystrophy|not provided [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900] | |
300_PRO | LEU |
ClinVar chr10:126091497 |
rs759979499
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
318_GLU | LYS | VAR_071927 |
rs386833621
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
318_GLU | LYS |
ClinVar chr10:126090357 |
rs386833621
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
319_HIS | TYR | VAR_000579 |
rs121965049
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
319_HIS | TYR |
ClinVar chr10:126090354 |
rs121965049
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
323_TYR | TER |
ClinVar chr10:126090340 |
-
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
326_ASN | LYS |
ClinVar chr10:126090331 |
rs386833622
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
327_PRO | ARG |
ClinVar chr10:126090329 |
rs1589698958
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
331_ARG | TER |
ClinVar chr10:126090318 |
rs386833623
|
Pathogenic | - | Ornithine aminotransferase deficiency|not provided [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|MedGen:C3661900] | |
332_VAL | MET | VAR_000580 |
rs121965047
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
332_VAL | MET |
ClinVar chr10:126090315 |
rs121965047
|
Pathogenic | - | Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia|Ornithine aminotransferase deficiency [MedGen:C4017305|MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
335_ALA | THR |
8.3kJPN chr10:126090306 |
rs751075605
|
- | 0.0001 | - | |
353_GLY | ASP | VAR_000581 |
rs121965053
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
353_GLY | ASP |
ClinVar chr10:126089510 |
rs121965053
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency|not provided [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|MedGen:C3661900] | |
375_GLY | ALA | VAR_000582 |
rs121965045
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
380_ILE | VAL |
gnomAD chr10:126089430 |
rs545710763
|
- | 0.000614932 | - | |
384_GLU | TER |
ClinVar chr10:126089418 |
rs1285313333
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
388_TRP | TER |
ClinVar chr10:126086668 |
rs2134440659
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
388_TRP | TER |
ClinVar chr10:126086667 |
-
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
389_ASP | TYR |
8.3kJPN chr10:126086666 |
rs1281980374
|
- | 0.001 | - | |
391_TRP | TER |
ClinVar chr10:126086659 |
rs386833596
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
394_CYS | ARG | VAR_000583 |
rs121965054
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
394_CYS | TYR | VAR_071928 |
rs386833597
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
394_CYS | ARG |
ClinVar chr10:126086651 |
rs121965054
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
394_CYS | TYR |
ClinVar chr10:126086650 |
rs386833597
|
Likely pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
396_ARG | TER |
ClinVar chr10:126086645 |
rs121965036
|
Pathogenic/Likely pathogenic | - | Ornithine aminotransferase deficiency|not provided [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|MedGen:C3661900] | |
398_ARG | TER |
ClinVar chr10:126086639 |
rs200068769
|
Pathogenic | - | Ornithine aminotransferase deficiency|Hyperornithinemia [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|Human Phenotype Ontology:HP:0012026,MedGen:C0599035] | |
401_GLY | TER |
ClinVar chr10:126086630 |
rs121965055
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
401_GLY | ALA |
8.3kJPN chr10:126086629 |
-
|
- | 0.0001 | - | |
402_LEU | PRO | VAR_000584 |
rs121965043
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
402_LEU | PRO |
ClinVar chr10:126086626 |
rs121965043
|
Pathogenic | - | Ornithine aminotransferase deficiency|Hyperornithinemia [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|Human Phenotype Ontology:HP:0012026,MedGen:C0599035] | |
402_LEU | PRO |
gnomAD chr10:126086626 |
rs121965043
|
- | 0.000270727 | - | |
412_ILE | ASN |
8.3kJPN chr10:126086596 |
-
|
- | 0.0001 | - | |
417_PRO | LEU | VAR_000585 |
rs121965044
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
417_PRO | LEU |
ClinVar chr10:126086581 |
rs121965044
|
Pathogenic | - | Ornithine aminotransferase deficiency [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414] | |
419_VAL | LEU |
gnomAD chr10:126086576 |
rs760922693
|
- | 0.000115566 | - | |
426_ARG | TER |
ClinVar chr10:126086555 |
rs121965058
|
Pathogenic | - | Ornithine aminotransferase deficiency|Hyperornithinemia [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|Human Phenotype Ontology:HP:0012026,MedGen:C0599035] | |
426_ARG | TER |
8.3kJPN chr10:126086555 |
rs121965058
|
- | 0.0001 | - | |
429_ILE | THR |
8.3kJPN chr10:126086545 |
rs774831749
|
- | 0.0001 | - | |
436_ILE | ASN | VAR_071929 |
rs386833598
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
436_ILE | ASN |
ClinVar chr10:126086524 |
rs386833598
|
Pathogenic | - | Ornithine aminotransferase deficiency|Hyperornithinemia [MONDO:MONDO:0009796,MedGen:C0018425,OMIM:258870,Orphanet:414|Human Phenotype Ontology:HP:0012026,MedGen:C0599035] | |
437_LEU | PHE | VAR_000586 |
rs1800456
|
LP/P | - | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870] | |
437_LEU | PHE |
gnomAD chr10:126086520 |
rs1800456
|
- | 0.000280224 | - |