PDB ID 1GBN CHAIN C
Protein name ORNITHINE AMINOTRANSFERASE
Uniprot Accession P04181
The number of similar proteins 15
The number of binding states 2
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1GBN (CHAIN: C)
1 P04181   P04181  
2 P04181  
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partners
  1
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Sequence information
1   PTSDDIFERE   YKYGAHNYHP   LPVALERGKG   IYLWDVEGRK   YFDFLSSYSA   50
51   VNQGHCHPKI   VNALKSQVDK   LTLTSRAFYN   NVLGEYEEYI   TKLFNYHKVL   100
101   PMNTGVEAGE   TACKLARKWG   YTVKGIQKYK   AKIVFAAGNF   WGRTLSAISS   150
151   STDPTSYDGF   GPFMPGFDII   PYNDLPALER   ALQDPNVAAF   MVEPIQGEAG   200
201   VVVPDPGYLM   GVRELCTRHQ   VLFIADEIQT   GLARTGRWLA   VDYENVRPDI   250
251   VLLGKALSGG   LYPVSAVLCD   DDIMLTIKPG   EHGSTYGGNP   LGCRVAIAAL   300
301   EVLEEENLAE   NADKLGIILR   NELMKLPSDV   VTAVRGKGLL   NAIVIKETKD   350
351   WDAWKVCLRL   RDNGLLAKPT   HGDIIRFAPP   LVIKEDELRE   SIEIINKTIL   400
401   SF           450
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
51_GLY ASP VAR_071924 rs11553554 Disease Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
54_ASN LYS ClinVar
chr10:126100579
rs121965048 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
55_TYR HIS ClinVar
chr10:126100578
rs121965037 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
89_ASN LYS ClinVar
chr10:126097467
rs386833602 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
90_GLN GLU ClinVar
chr10:126097466
rs121965060 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
91_GLY GLU ClinVar
chr10:126097462
rs386833603 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
93_CYS PHE ClinVar
chr10:126097456
rs121965038 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
104_GLN ARG ClinVar
chr10:126097423
rs386833604 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
121_GLY ASP ClinVar
chr10:126097372
rs386833605 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
142_GLY GLU ClinVar
chr10:126097206
rs386833610 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
154_ARG LEU ClinVar
chr10:126097170
rs121965039 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
178_TRP TER ClinVar
chr10:126094120
rs267606923 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
180_ARG THR ClinVar
chr10:126094114
rs121965040 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
181_THR MET ClinVar
chr10:126094111
rs386833613 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
184_ALA THR ClinVar
chr10:126094103
rs121965050 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
195_ASP TYR ClinVar
chr10:126094070
rs386833614 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
199_PRO GLN ClinVar
chr10:126094057
rs267606925 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
209_TYR TER ClinVar
chr10:126094026
rs121965056 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
226_ALA VAL ClinVar
chr10:126092461
rs121965059 Pathogenic Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia [MedGen:C4017305]
233_GLN ARG ClinVar
chr10:126092440
rs386833615 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
237_GLY ASP ClinVar
chr10:126092428
rs386833616 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
241_PRO LEU ClinVar
chr10:126092416
rs121965051 Likely pathogenic Gyrate atrophy [MedGen:C0018425]; Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
245_TYR CYS ClinVar
chr10:126092404
rs121965046 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
250_ARG PRO ClinVar
chr10:126092389
rs121965052 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
250_ARG TER ClinVar
chr10:126092390
rs386833617 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
267_THR ILE ClinVar
chr10:126091596
rs386833618 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
270_ALA PRO ClinVar
chr10:126091588
rs121965041 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
271_ARG LYS ClinVar
chr10:126091584
rs121965042 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
275_TRP TER ClinVar
chr10:126091572
rs267606924 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
292_LYS ARG ClinVar
chr10:126091521
rs1057518927 Likely pathogenic Abnormality of the choroid [Human Phenotype Ontology:HP:0000610,MedGen:C4025836]; Optic atrophy [Human Phenotype Ontology:HP:0000648,MedGen:C0029124]; Pain [Human Phenotype Ontology:HP:0012531,MedGen:C0030193]; Visual field defect [Human Phenotype Ontology:HP:0001123,MedGen:C3887875]
299_TYR TER ClinVar
chr10:126091499
rs121965057 Pathogenic Gyrate atrophy [MedGen:C0018425]; Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
318_GLU LYS ClinVar
chr10:126090357
rs386833621 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
319_HIS TYR ClinVar
chr10:126090354
rs121965049 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
326_ASN LYS ClinVar
chr10:126090331
rs386833622 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
331_ARG TER ClinVar
chr10:126090318
rs386833623 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
332_VAL MET ClinVar
chr10:126090315
rs121965047 Pathogenic/Likely pathogenic Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia [MedGen:C4017305]; Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
353_GLY ASP ClinVar
chr10:126089510
rs121965053 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
373_GLY GLU ClinVar
chr10:126089450
rs386833595 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
375_GLY ALA ClinVar
chr10:126089444
rs121965045 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
391_TRP TER ClinVar
chr10:126086659
rs386833596 Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
394_CYS ARG ClinVar
chr10:126086651
rs121965054 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
394_CYS TYR ClinVar
chr10:126086650
rs386833597 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
396_ARG TER ClinVar
chr10:126086645
rs121965036 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
398_ARG TER ClinVar
chr10:126086639
rs200068769 Pathogenic Gyrate atrophy [MedGen:C0018425]
401_GLY TER ClinVar
chr10:126086630
rs121965055 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
402_LEU PRO ClinVar
chr10:126086626
rs121965043 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
417_PRO LEU ClinVar
chr10:126086581
rs121965044 Pathogenic Gyrate atrophy [MedGen:C0018425]; Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
426_ARG TER ClinVar
chr10:126086555
rs121965058 Pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
436_ILE ASN ClinVar
chr10:126086524
rs386833598 Likely pathogenic Ornithine aminotransferase deficiency [Human Phenotype Ontology:HP:0012026,MedGen:C0599035,OMIM:258870,SNOMED CT:276426004]
437_LEU PHE VAR_000586 rs1800456 Disease Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]