Results for the protein: P00966

Results for the Protein: P00966

20141195

445

ASS1

NCBI, UniProt

ASSY_HUMAN RecName: Full=Argininosuccinate synthase; AltName: Full=Citrulline--aspartate ligase

Known Diseases associated with this Protein:
  CITRULLINEMIA 1 (CTLN1)
  CITRULLINEMIA, CLASSIC
  CITRULLINEMIA, MILD

75

2

14

1

62

Tips:

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Default View: ArgG - COG0137 Argininosuccinate_Sy - cd01999 Alpha_ANH_like - cd01986 AANH_like - cd01984 Arginosuc_synth - pfam00764	Swiss-Prot Protein: P00966 Identical to: NP_000041, NP_446464 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AANH_like	cd01984	9.5e-09	7	144
Alpha_ANH_like	cd01986	3.1e-09	7	146
Argininosuccinate_Sy	cd01999	8e-270	7	398
Arginosuc_synth	pfam00764	3.8e-281	8	405

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058346	Disease	p.ALA202GLU	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000684	Disease	p.ALA118THR	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000687	Disease	p.ALA192VAL	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015897	Disease	p.ARG157CYS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058349	Disease	p.ARG265CYS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000688	Disease	p.ARG272CYS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058355	Disease	p.ARG307CYS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000683	Disease	p.ARG86CYS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058341	Disease	p.ARG127GLN	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016008	Disease	p.ARG279GLN	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016011	Disease	p.ARG363GLN	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016010	Disease	p.ARG363GLY	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000685	Disease	p.ARG157HIS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015900	Disease	p.ARG265HIS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015892	Disease	p.ARG86HIS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016014	Disease	p.ARG108LEU	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000692	Disease	p.ARG363LEU	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015893	Disease	p.ARG95SER	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058342	Disease	p.ARG127TRP	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000690	Disease	p.ARG304TRP	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000693	Disease	p.ARG363TRP	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058340	Disease	p.ASP124ASN	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058353	Disease	p.ASP296GLY	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015891	Disease	p.CYS19ARG	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058337	Disease	p.GLN40LEU	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058345	Disease	p.GLU191GLN	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016007	Disease	p.GLU270GLN	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015899	Disease	p.GLU191LYS	Citrullinemia 1 (CTLN1)
dbSNP	rs74923032	Polymorphism	p.GLU256LYS	N/A
Swiss-Prot	VAR_015902	Disease	p.GLU283LYS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000689	Disease	p.GLY280ARG	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058359	Disease	p.GLY347ARG	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000694	Disease	p.GLY390ARG	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015896	Disease	p.GLY117ASP	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015895	Disease	p.GLY117SER	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000681	Disease	p.GLY14SER	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000691	Disease	p.GLY324SER	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058356	Disease	p.GLY324VAL	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015904	Disease	p.GLY362VAL	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058343	Disease	p.LEU160PRO	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058347	Disease	p.LEU206PRO	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015903	Disease	p.LYS310ARG	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016009	Disease	p.LYS310GLN	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058350	Disease	p.LYS277THR	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058354	Disease	p.MET302VAL	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058339	Disease	p.PRO96HIS	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015894	Disease	p.PRO96SER	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_000686	Disease	p.SER180ASN	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_050427	Polymorphism	p.SER65ILE	N/A
Swiss-Prot	VAR_000682	Disease	p.SER18LEU	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058357	Disease	p.SER341PHE	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058338	Disease	p.SER79PRO	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016015	Disease	p.THR119ILE	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058351	Disease	p.THR284ILE	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016012	Disease	p.THR389ILE	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015898	Disease	p.TRP179ARG	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058344	Disease	p.TYR190ASP	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058360	Disease	p.TYR359ASP	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058352	Disease	p.TYR291SER	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_016013	Disease	p.VAL69ALA	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058358	Disease	p.VAL345GLY	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_058348	Disease	p.VAL263MET	Citrullinemia 1 (CTLN1)
Swiss-Prot	VAR_015901	Disease	p.VAL269MET	Citrullinemia 1 (CTLN1)
OMIM	603470.0012	Disease	p.ARG86CYS	CITRULLINEMIA, CLASSIC
OMIM	603470.0005	Disease	p.ARG157HIS	CITRULLINEMIA, CLASSIC
OMIM	603470.0014	Disease	p.ARG108LEU	CITRULLINEMIA, CLASSIC
OMIM	603470.0013	Disease	p.ARG279TER	CITRULLINEMIA, CLASSIC
OMIM	603470.0010	Disease	p.ARG304TRP	CITRULLINEMIA, CLASSIC
OMIM	603470.0008	Disease	p.ARG363TRP	CITRULLINEMIA, CLASSIC
OMIM	603470.0009	Disease	p.GLY390ARG	CITRULLINEMIA, CLASSIC
OMIM	603470.0004	Disease	p.GLY14SER	CITRULLINEMIA, CLASSIC
OMIM	603470.0007	Disease	p.GLY324SER	CITRULLINEMIA, CLASSIC
OMIM	603470.0016	Disease	p.GLY362VAL	CITRULLINEMIA, MILD
OMIM	603470.0019	Disease	p.LYS310GLN	CITRULLINEMIA, CLASSIC
OMIM	603470.0006	Disease	p.SER180ASN	CITRULLINEMIA, CLASSIC
OMIM	603470.0011	Disease	p.SER18LEU	CITRULLINEMIA, CLASSIC
OMIM	603470.0015	Disease	p.TRP179ARG	CITRULLINEMIA, MILD

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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