Results for the protein: P31327

Results for the Protein: P31327

4033707

1373

CPS1

NCBI, UniProt

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

140

8

6

3

139

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Default View: Peptidase_C26 - pfam07722 MGS - smart00851	Swiss-Prot Protein: P31327 Identical to: NP_001866 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MGS	smart00851	1.8e-18	1373	1465

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066125	Disease	p.ALA1065GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066127	Disease	p.ALA1155GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063563	Disease	p.ALA438PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066192	Disease	p.ALA498PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066109	Disease	p.ALA724PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066143	Disease	p.ALA640SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
dbSNP	rs76340296	Polymorphism	p.ALA1119THR	N/A
Swiss-Prot	VAR_066169	Disease	p.ALA1378THR	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066190	Disease	p.ALA438THR	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066142	Disease	p.ALA589THR	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066110	Disease	p.ALA726THR	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066158	Disease	p.ALA949THR	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066128	Disease	p.ALA1155VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066183	Disease	p.ALA304VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066171	Disease	p.ALA43VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066126	Disease	p.ARG1089CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066179	Disease	p.ARG233CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066195	Disease	p.ARG587CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066145	Disease	p.ARG803CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063569	Disease	p.ARG850CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066130	Disease	p.ARG1228GLN	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066133	Disease	p.ARG1262GLN	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_064067	Disease	p.ARG1453GLN	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066108	Disease	p.ARG721GLN	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066146	Disease	p.ARG803GLY	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063564	Disease	p.ARG587HIS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063568	Disease	p.ARG780HIS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_030675	Disease	p.ARG850HIS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066165	Disease	p.ARG1089LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066137	Disease	p.ARG1371LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066196	Disease	p.ARG587LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066107	Disease	p.ARG718LYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066132	Disease	p.ARG1262PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066201	Disease	p.ARG638PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066147	Disease	p.ARG803SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066157	Disease	p.ARG932THR	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_064068	Disease	p.ARG1453TRP	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066150	Disease	p.ARG814TRP	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063567	Disease	p.ASN674ILE	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063575	Disease	p.ASN1241LYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066204	Disease	p.ASN674LYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066144	Disease	p.ASN716LYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066119	Disease	p.ASN1016SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066205	Disease	p.ASN698SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066167	Disease	p.ASP1205ASN	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066177	Disease	p.ASP165GLY	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066155	Disease	p.ASP914GLY	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066134	Disease	p.ASP1274HIS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066185	Disease	p.ASP358HIS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066156	Disease	p.ASP914HIS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066178	Disease	p.ASP224VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066203	Disease	p.ASP654VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066111	Disease	p.ASP767VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066135	Disease	p.CYS1327ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066151	Disease	p.CYS816ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066202	Disease	p.CYS648TYR	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066124	Disease	p.GLN1059ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063571	Disease	p.GLN1103ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_017563	Disease	p.GLN810ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_064064	Disease	p.GLN678PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066131	Disease	p.GLU1255ASP	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066122	Disease	p.GLU1034GLY	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063566	Disease	p.GLU651LYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066187	Disease	p.GLY401ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066188	Disease	p.GLY431ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063565	Disease	p.GLY593ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066172	Disease	p.GLY58ASP	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066199	Disease	p.GLY628ASP	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063570	Disease	p.GLY982ASP	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066117	Disease	p.GLY987CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066136	Disease	p.GLY1333GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066181	Disease	p.GLY258GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066182	Disease	p.GLY263GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066104	Disease	p.GLY301GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066184	Disease	p.GLY317GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063560	Disease	p.GLY79GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066152	Disease	p.GLY911GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_017568	Polymorphism	p.GLY1376SER	N/A
Swiss-Prot	VAR_066162	Disease	p.GLY982SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066189	Disease	p.GLY432VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_070211	Polymorphism	p.GLY530VAL	N/A
Swiss-Prot	VAR_066153	Disease	p.GLY911VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066114	Disease	p.GLY982VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066123	Disease	p.HIS1045ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_014077	Disease	p.HIS337ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063573	Disease	p.HIS1195PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066180	Disease	p.HIS243PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066164	Disease	p.ILE1054ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066200	Disease	p.ILE632ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066116	Disease	p.ILE986THR	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063574	Disease	p.ILE1215VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066106	Disease	p.LEU390ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066159	Disease	p.LEU958PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_017564	Disease	p.LEU843SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066139	Disease	p.LEU1398VAL	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063562	Disease	p.LYS280ASN	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066191	Disease	p.LYS450GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_017565	Disease	p.LYS875GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066112	Disease	p.MET792ILE	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_017567	Polymorphism	p.MET1283LEU	N/A
Swiss-Prot	VAR_066148	Disease	p.PHE805LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_017566	Polymorphism	p.PHE1266SER	N/A
Swiss-Prot	VAR_066149	Disease	p.PHE805SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066118	Disease	p.PHE992SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066141	Disease	p.PRO1462ARG	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066120	Disease	p.PRO1017LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_064066	Disease	p.PRO1411LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066140	Disease	p.PRO1439LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066186	Disease	p.PRO382LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_064065	Disease	p.PRO774LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066175	Disease	p.PRO87SER	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066129	Disease	p.SER1203LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066197	Disease	p.SER597LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066154	Disease	p.SER913LEU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_064062	Disease	p.SER123PHE	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066173	Disease	p.SER65PHE	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066163	Disease	p.SER998PHE	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066166	Disease	p.SER1203PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066168	Disease	p.SER1331PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_030676	Disease	p.SER918PRO	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066170	Disease	p.THR1443ALA	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
dbSNP	rs1047883	Polymorphism	p.THR344ALA	N/A
dbSNP	rs1047891	Polymorphism	p.THR1406ASN	N/A
Swiss-Prot	VAR_064063	Disease	p.THR471ASN	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066121	Disease	p.THR1022ILE	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066138	Disease	p.THR1391MET	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_006835	Disease	p.THR544MET	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_061752	Polymorphism	p.THR344SER	N/A
Swiss-Prot	VAR_063561	Disease	p.TYR212ASN	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066176	Disease	p.TYR89ASP	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066105	Disease	p.TYR389CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066160	Disease	p.TYR959CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066161	Disease	p.TYR962CYS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_064069	Disease	p.TYR1491HIS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066115	Disease	p.TYR984HIS	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066193	Disease	p.VAL531GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066113	Disease	p.VAL978GLU	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_063572	Disease	p.VAL1141GLY	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_017562	Disease	p.VAL457GLY	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066194	Disease	p.VAL531GLY	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066174	Disease	p.VAL71GLY	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
Swiss-Prot	VAR_066198	Disease	p.VAL622MET	Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
OMIM	608307.0009	Disease	p.ARG781TER	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
OMIM	608307.0003	Disease	p.GLN38TER	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
OMIM	608307.0007	Disease	p.GLY976ASP	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
OMIM	608307.0012	Disease	p.GLY524VAL	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	608307.0004	Disease	p.HIS331ARG	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
OMIM	608307.0002	Disease	p.THR538MET	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY

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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