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Results for the Protein: P31327
4033707

CPSM_HUMAN RecName: Full=Carbamoyl-phosphate synthase [ammonia], mitochondrial; AltName: Full=Carbamoyl-phosphate synthetase I; Short=CPSase I; Flags: Precursor

Known Diseases associated with this Protein:
  CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY (CPS1D)
  CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
  VARIANT OF UNKNOWN SIGNIFICANCE
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3
139
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Peptidase_C26 - pfam07722
MGS - smart00851


Swiss-Prot Protein: P31327
Identical to: NP_001866
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidase_C26pfam077224.6e-05219379
MGSsmart008511.8e-1813731465

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066125Diseasep.ALA1065GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066127Diseasep.ALA1155GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063563Diseasep.ALA438PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066192Diseasep.ALA498PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066109Diseasep.ALA724PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066143Diseasep.ALA640SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
dbSNPrs76340296 Polymorphismp.ALA1119THRN/A
Swiss-ProtVAR_066169Diseasep.ALA1378THRCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066190Diseasep.ALA438THRCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066142Diseasep.ALA589THRCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066110Diseasep.ALA726THRCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066158Diseasep.ALA949THRCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066128Diseasep.ALA1155VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066183Diseasep.ALA304VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066171Diseasep.ALA43VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066126Diseasep.ARG1089CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066179Diseasep.ARG233CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066195Diseasep.ARG587CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066145Diseasep.ARG803CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063569Diseasep.ARG850CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066130Diseasep.ARG1228GLNCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066133Diseasep.ARG1262GLNCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_064067Diseasep.ARG1453GLNCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066108Diseasep.ARG721GLNCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066146Diseasep.ARG803GLYCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063564Diseasep.ARG587HISCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063568Diseasep.ARG780HISCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_030675Diseasep.ARG850HISCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066165Diseasep.ARG1089LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066137Diseasep.ARG1371LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066196Diseasep.ARG587LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066107Diseasep.ARG718LYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066132Diseasep.ARG1262PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066201Diseasep.ARG638PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066147Diseasep.ARG803SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066157Diseasep.ARG932THRCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_064068Diseasep.ARG1453TRPCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066150Diseasep.ARG814TRPCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063567Diseasep.ASN674ILECarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063575Diseasep.ASN1241LYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066204Diseasep.ASN674LYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066144Diseasep.ASN716LYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066119Diseasep.ASN1016SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066205Diseasep.ASN698SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066167Diseasep.ASP1205ASNCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066177Diseasep.ASP165GLYCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066155Diseasep.ASP914GLYCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066134Diseasep.ASP1274HISCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066185Diseasep.ASP358HISCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066156Diseasep.ASP914HISCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066178Diseasep.ASP224VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066203Diseasep.ASP654VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066111Diseasep.ASP767VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066135Diseasep.CYS1327ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066151Diseasep.CYS816ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066202Diseasep.CYS648TYRCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066124Diseasep.GLN1059ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063571Diseasep.GLN1103ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_017563Diseasep.GLN810ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_064064Diseasep.GLN678PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066131Diseasep.GLU1255ASPCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066122Diseasep.GLU1034GLYCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063566Diseasep.GLU651LYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066187Diseasep.GLY401ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066188Diseasep.GLY431ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063565Diseasep.GLY593ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066172Diseasep.GLY58ASPCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066199Diseasep.GLY628ASPCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063570Diseasep.GLY982ASPCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066117Diseasep.GLY987CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066136Diseasep.GLY1333GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066181Diseasep.GLY258GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066182Diseasep.GLY263GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066104Diseasep.GLY301GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066184Diseasep.GLY317GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063560Diseasep.GLY79GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066152Diseasep.GLY911GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_017568Polymorphismp.GLY1376SERN/A
Swiss-ProtVAR_066162Diseasep.GLY982SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066189Diseasep.GLY432VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_070211Polymorphismp.GLY530VALN/A
Swiss-ProtVAR_066153Diseasep.GLY911VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066114Diseasep.GLY982VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066123Diseasep.HIS1045ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_014077Diseasep.HIS337ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063573Diseasep.HIS1195PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066180Diseasep.HIS243PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066164Diseasep.ILE1054ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066200Diseasep.ILE632ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066116Diseasep.ILE986THRCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063574Diseasep.ILE1215VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066106Diseasep.LEU390ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066159Diseasep.LEU958PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_017564Diseasep.LEU843SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066139Diseasep.LEU1398VALCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063562Diseasep.LYS280ASNCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066191Diseasep.LYS450GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_017565Diseasep.LYS875GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066112Diseasep.MET792ILECarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_017567Polymorphismp.MET1283LEUN/A
Swiss-ProtVAR_066148Diseasep.PHE805LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_017566Polymorphismp.PHE1266SERN/A
Swiss-ProtVAR_066149Diseasep.PHE805SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066118Diseasep.PHE992SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066141Diseasep.PRO1462ARGCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066120Diseasep.PRO1017LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_064066Diseasep.PRO1411LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066140Diseasep.PRO1439LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066186Diseasep.PRO382LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_064065Diseasep.PRO774LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066175Diseasep.PRO87SERCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066129Diseasep.SER1203LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066197Diseasep.SER597LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066154Diseasep.SER913LEUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_064062Diseasep.SER123PHECarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066173Diseasep.SER65PHECarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066163Diseasep.SER998PHECarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066166Diseasep.SER1203PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066168Diseasep.SER1331PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_030676Diseasep.SER918PROCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066170Diseasep.THR1443ALACarbamoyl phosphate synthetase 1 deficiency (CPS1D)
dbSNPrs1047883 Polymorphismp.THR344ALAN/A
dbSNPrs1047891 Polymorphismp.THR1406ASNN/A
Swiss-ProtVAR_064063Diseasep.THR471ASNCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066121Diseasep.THR1022ILECarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066138Diseasep.THR1391METCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_006835Diseasep.THR544METCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_061752Polymorphismp.THR344SERN/A
Swiss-ProtVAR_063561Diseasep.TYR212ASNCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066176Diseasep.TYR89ASPCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066105Diseasep.TYR389CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066160Diseasep.TYR959CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066161Diseasep.TYR962CYSCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_064069Diseasep.TYR1491HISCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066115Diseasep.TYR984HISCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066193Diseasep.VAL531GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066113Diseasep.VAL978GLUCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_063572Diseasep.VAL1141GLYCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_017562Diseasep.VAL457GLYCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066194Diseasep.VAL531GLYCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066174Diseasep.VAL71GLYCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-ProtVAR_066198Diseasep.VAL622METCarbamoyl phosphate synthetase 1 deficiency (CPS1D)
OMIM608307.0009 Diseasep.ARG781TERCARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
OMIM608307.0003 Diseasep.GLN38TERCARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
OMIM608307.0007 Diseasep.GLY976ASPCARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
OMIM608307.0012 Diseasep.GLY524VALVARIANT OF UNKNOWN SIGNIFICANCE
OMIM608307.0004 Diseasep.HIS331ARGCARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
OMIM608307.0002 Diseasep.THR538METCARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY



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