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

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
2BYJ (CHAIN: A)
1 P04181  
2 Monomeric state
3 P04181   P04181  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   MFSKLAHLQR   FAVLSRGVHS   SVASATSVAT   KKTVQGPPTS   DDIFEREYKY   50
51   GAHNYHPLPV   ALERGKGIYL   WDVEGRKYFD   FLSSISAVNQ   GHCHPKIVNA   100
101   LKSQVDKLTL   TSRAFYNNVL   GEYEEYITKL   FNYHKVLPMN   TGVEAGETAC   150
151   KLARKWGYTV   KGIQKYKAKI   VFAAGNFWGR   TLSAISSSTD   PTSYDGFGPF   200
201   MPGFDIIPYN   DLPALERALQ   DPNVAAFMVE   PIQGEAGVVV   PDPGYLMGVR   250
251   ELCTRHQVLF   IADEIQTGLA   RTGRWLAVDY   ENVRPDIVLL   GKALSGGLYP   300
301   VSAVLCDDDI   MLTIKPGEHG   STYGGNPLGC   RVAIAALEVL   EEENLAENAD   350
351   KLGIILRNEL   MKLPSDVVTA   VRGKGLLNAI   VIKETKDWDA   WKVCLRLRDN   400
401   GLLAKPTHGD   IIRFAPPLVI   KEDELRESIE   IINKTILSF     450

Variants

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 -
(Powered by wupsivus)

Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.