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Results for the Protein: P00480
84028235
OTC

OTC_HUMAN RecName: Full=Ornithine carbamoyltransferase, mitochondrial; AltName: Full=Ornithine transcarbamylase; Short=OTCase; Flags: Precursor

Known Diseases associated with this Protein:
  ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY (OTCD)
  ORNITHINE TRANSCARBAMYLASE DEFICIENCY
133
6
22
1
116
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Default View:

PyrB - COG0540
ArgF - COG0078
OTCace_N - pfam02729
OTCace - pfam00185


Swiss-Prot Protein: P00480
Identical to: NP_000522
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ArgFCOG00787e-15934343
OTCace_Npfam027295.3e-6840182
OTCacepfam001854.7e-63187341

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004870Diseasep.ALA102GLUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_010605Diseasep.ALA140PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004887Diseasep.ALA174PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004940Diseasep.ALA336SEROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004908Diseasep.ALA208THROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004909Diseasep.ALA209VALOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004845Diseasep.ARG40CYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004879Diseasep.ARG141GLNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004843Diseasep.ARG26GLNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004929Diseasep.ARG277GLNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004865Diseasep.ARG92GLNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004939Diseasep.ARG330GLYOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004876Diseasep.ARG129HISOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004846Diseasep.ARG40HISOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004938Diseasep.ARG320LEUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004878Diseasep.ARG141PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004867Diseasep.ARG94THROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004930Diseasep.ARG277TRPOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004852Diseasep.ASN47ILEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_010606Diseasep.ASN198LYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004882Diseasep.ASN161SEROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004921Diseasep.ASP263ASNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004875Diseasep.ASP126GLYOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004920Diseasep.ASP263GLYOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004901Diseasep.ASP196TYROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004888Diseasep.ASP175VALOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004900Diseasep.ASP196VALOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004934Diseasep.CYS303ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004935Diseasep.CYS303TYROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004927Polymorphismp.GLN270ARGN/A
Swiss-ProtVAR_004911Diseasep.GLN216GLUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004892Diseasep.GLN180HISOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004893Diseasep.GLU181GLYOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_010610Diseasep.GLU326LYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004862Diseasep.GLU87LYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004883Diseasep.GLY162ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004897Diseasep.GLY188ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004899Diseasep.GLY195ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_009235Diseasep.GLY197ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004853Diseasep.GLY50ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004861Diseasep.GLY83ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004868Diseasep.GLY100ASPOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004860Diseasep.GLY83ASPOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004844Diseasep.GLY39CYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004902Diseasep.GLY197GLUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004926Diseasep.GLY269GLUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004858Diseasep.GLY79GLUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_009234Diseasep.GLY188VALOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004873Diseasep.HIS117ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004885Diseasep.HIS168ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004884Diseasep.HIS168GLNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004932Diseasep.HIS302GLNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004872Diseasep.HIS117LEUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004894Diseasep.HIS182LEUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004931Diseasep.HIS302LEUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004919Diseasep.HIS255PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004904Diseasep.HIS202TYROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_010607Diseasep.HIS214TYROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004933Diseasep.HIS302TYROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004886Diseasep.ILE172METOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_009233Diseasep.ILE172PHEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_012651Diseasep.ILE160SEROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004881Diseasep.ILE159THROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004917Diseasep.LEU244GLNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004880Diseasep.LEU148PHEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_012652Diseasep.LEU191PHEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_012654Diseasep.LEU301PHEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004936Diseasep.LEU304PHEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004847Polymorphismp.LEU43PHEN/A
Swiss-ProtVAR_004871Polymorphismp.LEU111PRON/A
Swiss-ProtVAR_004903Diseasep.LEU201PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_012657Diseasep.LEU341PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004849Diseasep.LEU45PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004857Diseasep.LEU63PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004877Diseasep.LEU139SEROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004850Diseasep.LEU45VALOrnithine carbamoyltransferase deficiency (OTCD)
dbSNPrs1800321 Polymorphismp.LYS46ARGN/A
Swiss-ProtVAR_004863Diseasep.LYS88ASNOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004906Diseasep.MET206ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_012653Diseasep.MET206ILEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004910Diseasep.MET213LYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004925Diseasep.MET268THROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004855Diseasep.MET56THROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004948Diseasep.PHE354CYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004869Polymorphismp.PHE101LEUN/A
Swiss-ProtVAR_004912Diseasep.PRO220ALAOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004914Diseasep.PRO225ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_012655Diseasep.PRO305HISOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004913Diseasep.PRO225LEUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004915Diseasep.PRO225THROrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004898Diseasep.SER192ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004907Diseasep.SER207ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004924Diseasep.SER267ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004864Diseasep.SER90ARGOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004905Diseasep.SER203CYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004856Diseasep.SER60LEUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004943Diseasep.SER340PROOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004922Diseasep.THR264ALAOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_012656Polymorphismp.THR333ALAN/A
Swiss-ProtVAR_004866Diseasep.THR93ALAOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004916Diseasep.THR242ILEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004923Diseasep.THR264ILEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004848Diseasep.THR44ILEOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004918Diseasep.THR247LYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_010608Diseasep.THR262LYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004944Diseasep.THR343LYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004874Diseasep.THR125METOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004890Diseasep.THR178METOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_010609Diseasep.TRP265LEUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004896Diseasep.TYR183ASPOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004947Diseasep.TYR345ASPOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004854Diseasep.TYR55ASPOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004889Diseasep.TYR176CYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004895Diseasep.TYR183CYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004946Diseasep.TYR345CYSOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004941Diseasep.VAL337LEUOrnithine carbamoyltransferase deficiency (OTCD)
Swiss-ProtVAR_004942Diseasep.VAL339LEUOrnithine carbamoyltransferase deficiency (OTCD)
OMIM300461.0028 Diseasep.ARG40CYSORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0002 Diseasep.ARG109GLNORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0008 Diseasep.ARG26GLNORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0025 Diseasep.ARG129HISORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0029 Diseasep.ARG40HISORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0003 Diseasep.ARG109TERORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0022 Diseasep.ARG62THRORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0010 Diseasep.ARG245TRPORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0014 Diseasep.ARG277TRPORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0005 Diseasep.GLN216GLUORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0016 Diseasep.GLU87LYSORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0006 Diseasep.GLU154TERORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0018 Diseasep.GLY162ARGORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0021 Diseasep.GLY47GLUORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0017 Diseasep.GLY50TERORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0026 Diseasep.LEU148PHEORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0023 Diseasep.LEU272PHEORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0004 Diseasep.LEU111PROORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0007 Diseasep.LEU45PROORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0027 Diseasep.MET206ARGORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0015 Diseasep.PRO225LEUORNITHINE TRANSCARBAMYLASE DEFICIENCY
OMIM300461.0024 Diseasep.TYR313ASPORNITHINE TRANSCARBAMYLASE DEFICIENCY



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