Results for the protein: P04181

Results for the Protein: P04181

129018

4942

OAT

NCBI, UniProt

OAT_HUMAN RecName: Full=Ornithine aminotransferase, mitochondrial; AltName: Full=Ornithine delta-aminotransferase; AltName: Full=Ornithine--oxo-acid aminotransferase; Contains: RecName: Full=Ornithine aminotransferase, hepatic form; Contains: RecName: Full=Ornithine aminotransferase, renal form; Flags: Precursor

Known Diseases associated with this Protein:
  GYRATE ATROPHY OF CHOROID AND RETINA
  GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
  HYPERORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA (HOGA)

50

1

29

0

22

Tips:

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Default View: GabT - COG0160 HemL - COG0001 ArgD - COG4992 BioA - COG0161 OAT_like - cd00610 Aminotran_3 - pfam00202 AAT_I - cd01494	Swiss-Prot Protein: P04181 Identical to: NP_000265 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HemL	COG0001	1.3e-19	34	435
BioA	COG0161	1.7e-54	39	437
OAT_like	cd00610	4.6e-179	43	436
AAT_I	cd01494	2.7e-06	119	307
ArgD	COG4992	1.3e-176	35	438
Aminotran_3	pfam00202	2.3e-166	61	384

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_000577	Disease	p.ALA270PRO	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000572	Disease	p.ALA226VAL	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000569	Disease	p.ARG154LEU	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000578	Disease	p.ARG271LYS	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000575	Disease	p.ARG250PRO	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000570	Disease	p.ARG180THR	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000565	Disease	p.ASN54LYS	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000567	Disease	p.ASN89LYS	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000583	Disease	p.CYS394ARG	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000568	Disease	p.CYS93PHE	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_015648	Disease	p.GLN90GLU	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000582	Disease	p.GLY375ALA	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000581	Disease	p.GLY353ASP	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000579	Disease	p.HIS319TYR	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000586	Polymorphism	p.LEU437PHE	N/A
Swiss-Prot	VAR_000584	Disease	p.LEU402PRO	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000573	Disease	p.PRO241LEU	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000585	Disease	p.PRO417LEU	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000576	Disease	p.THR267ILE	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000574	Disease	p.TYR245CYS	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000566	Disease	p.TYR55HIS	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-Prot	VAR_000580	Disease	p.VAL332MET	Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
OMIM	613349.0009	Disease	p.ALA270PRO	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0038	Disease	p.ALA226VAL	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
OMIM	613349.0007	Disease	p.ARG154LEU	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0010	Disease	p.ARG271LYS	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0026	Disease	p.ARG250PRO	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0004	Disease	p.ARG396TER	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0034	Disease	p.ARG426TER	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0008	Disease	p.ARG180THR	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0024	Disease	p.ARG184THR	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0019	Disease	p.ASN54LYS	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0029	Disease	p.CYS394ARG	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0006	Disease	p.CYS93PHE	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0039	Disease	p.GLN90GLU	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0014	Disease	p.GLY375ALA	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0027	Disease	p.GLY353ASP	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0030	Disease	p.GLY401TER	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0020	Disease	p.HIS319TYR	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0011	Disease	p.LEU402PRO	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0040	Disease	p.PRO199GLN	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0025	Disease	p.PRO241LEU	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0012	Disease	p.PRO417LEU	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0036	Disease	p.TRP178TER	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0037	Disease	p.TRP275TER	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0028	Disease	p.TRP391TER	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0016	Disease	p.TYR245CYS	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0005	Disease	p.TYR55HIS	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0032	Disease	p.TYR209TER	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0033	Disease	p.TYR299TER	GYRATE ATROPHY OF CHOROID AND RETINA
OMIM	613349.0018	Disease	p.VAL332MET	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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