Results for the protein: P20933

Results for the Protein: P20933

288558804

175

AGA

NCBI, UniProt

ASPG_HUMAN RecName: Full=N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase; AltName: Full=Aspartylglucosaminidase; AltName: Full=Glycosylasparaginase; AltName: Full=N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase; Contains: RecName: Full=Glycosylasparaginase alpha chain; Contains: RecName: Full=Glycosylasparaginase beta chain; Flags: Precursor

Known Diseases associated with this Protein:
  ASPARTYLGLUCOSAMINURIA
  ASPARTYLGLUCOSAMINURIA (AGU)
  ASPARTYLGLUCOSAMINURIA, FINNISH TYPE

18

3

6

1

14

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: COG1446 - COG1446 Asparaginase_2_like - cd04703 Asparaginase_2 - pfam01112 ASRGL1_like - cd04702 Ntn_Asparaginase_2_l - cd04512 Glycosylasparaginase - cd04513 Asparaginase_2 - cd04701 Taspase1_like - cd04514	Swiss-Prot Protein: P20933 Identical to: NP_000018 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Asparaginase_2_like	cd04703	4.1e-17	26	323
ASRGL1_like	cd04702	2.4e-19	27	326
Ntn_Asparaginase_2_l	cd04512	9e-52	29	331
Glycosylasparaginase	cd04513	1.7e-201	29	331
Asparaginase_2	cd04701	4.8e-18	33	322
Taspase1_like	cd04514	3.9e-12	35	344
Asparaginase_2	pfam01112	7.4e-199	27	335

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005071	Disease	p.ALA101VAL	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_005072	Disease	p.ARG161GLN	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_005075	Disease	p.CYS306ARG	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_005073	Disease	p.CYS163SER	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_015431	Disease	p.GLY252ARG	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_005074	Disease	p.GLY302ARG	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_005069	Disease	p.GLY60ASP	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_015428	Disease	p.GLY100GLU	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_015430	Disease	p.GLY252GLU	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_015429	Disease	p.PHE135SER	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_005070	Disease	p.SER72PRO	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_015432	Disease	p.THR257ILE	Aspartylglucosaminuria (AGU)
Swiss-Prot	VAR_061026	Polymorphism	p.THR322ILE	N/A
dbSNP	rs2228119	Polymorphism	p.THR149SER	N/A
Swiss-Prot	VAR_015427	Polymorphism	p.VAL12LEU	N/A
OMIM	613228.0005	Disease	p.ALA101VAL	ASPARTYLGLUCOSAMINURIA
OMIM	613228.0003	Disease	p.CYS306ARG	ASPARTYLGLUCOSAMINURIA
OMIM	613228.0001	Disease	p.CYS163SER	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE
OMIM	613228.0002	Disease	p.GLY302ARG	ASPARTYLGLUCOSAMINURIA
OMIM	613228.0004	Disease	p.GLY60ASP	ASPARTYLGLUCOSAMINURIA
OMIM	613228.0012	Disease	p.SER72PRO	ASPARTYLGLUCOSAMINURIA

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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