Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P04181
129018
OAT

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:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



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 ↕
GabTCOG01601.3e-10323437
HemLCOG00011.3e-1934435
BioACOG01611.7e-5439437
OAT_likecd006104.6e-17943436
AAT_Icd014942.7e-06119307
ArgDCOG49921.3e-17635438
Aminotran_3pfam002022.3e-16661384

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_000577Diseasep.ALA270PROHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000572Diseasep.ALA226VALHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000569Diseasep.ARG154LEUHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000578Diseasep.ARG271LYSHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000575Diseasep.ARG250PROHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000570Diseasep.ARG180THRHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000565Diseasep.ASN54LYSHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000567Diseasep.ASN89LYSHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000583Diseasep.CYS394ARGHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000568Diseasep.CYS93PHEHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_015648Diseasep.GLN90GLUHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000582Diseasep.GLY375ALAHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000581Diseasep.GLY353ASPHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000579Diseasep.HIS319TYRHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000586Polymorphismp.LEU437PHEN/A
Swiss-ProtVAR_000584Diseasep.LEU402PROHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000573Diseasep.PRO241LEUHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000585Diseasep.PRO417LEUHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000576Diseasep.THR267ILEHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000574Diseasep.TYR245CYSHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000566Diseasep.TYR55HISHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
Swiss-ProtVAR_000580Diseasep.VAL332METHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
OMIM613349.0009 Diseasep.ALA270PROGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0038 Diseasep.ALA226VALGYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
OMIM613349.0007 Diseasep.ARG154LEUGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0010 Diseasep.ARG271LYSGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0026 Diseasep.ARG250PROGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0004 Diseasep.ARG396TERGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0034 Diseasep.ARG426TERGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0008 Diseasep.ARG180THRGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0024 Diseasep.ARG184THRGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0019 Diseasep.ASN54LYSGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0029 Diseasep.CYS394ARGGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0006 Diseasep.CYS93PHEGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0039 Diseasep.GLN90GLUGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0014 Diseasep.GLY375ALAGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0027 Diseasep.GLY353ASPGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0030 Diseasep.GLY401TERGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0020 Diseasep.HIS319TYRGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0011 Diseasep.LEU402PROGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0040 Diseasep.PRO199GLNGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0025 Diseasep.PRO241LEUGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0012 Diseasep.PRO417LEUGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0036 Diseasep.TRP178TERGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0037 Diseasep.TRP275TERGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0028 Diseasep.TRP391TERGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0016 Diseasep.TYR245CYSGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0005 Diseasep.TYR55HISGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0032 Diseasep.TYR209TERGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0033 Diseasep.TYR299TERGYRATE ATROPHY OF CHOROID AND RETINA
OMIM613349.0018 Diseasep.VAL332METGYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258