Results for the protein: Q99497

Results for the Protein: Q99497

56404943

11315

PARK7

NCBI, UniProt

PARK7_HUMAN RecName: Full=Protein DJ-1; AltName: Full=Oncogene DJ1; AltName: Full=Parkinson disease protein 7; Flags: Precursor

Known Diseases associated with this Protein:
  PARKINSON DISEASE 7 (PARK7)
  PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
  PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1

10

4

5

0

9

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: ThiJ - COG0693 GATase1_PfpI_1 - cd03169 GATase1_PfpI_like - cd03134 GATase1_PfpI_2 - cd03139 GATase1_Hsp31_like - cd03141 GATase1_PfpI_3 - cd03140 GATase1_AraC_1 - cd03137 GATase1_DJ-1 - cd03135 GATase1 - cd01653 GAT_1 - cd03128 GATase1_EcHsp31_like - cd03148 GATase1_AraC_ArgR_li - cd03136 DJ-1_PfpI - pfam01965	Swiss-Prot Protein: Q99497 Identical to: NP_009193, NP_001116849 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GATase1_PfpI_like	cd03134	2e-12	5	171
GATase1_PfpI_1	cd03169	0.00046	5	172
GATase1	cd01653	2.6e-08	6	187
GAT_1	cd03128	2.1e-10	6	112
GATase1_DJ-1	cd03135	8.2e-78	6	172
GATase1_AraC_1	cd03137	6.4e-06	6	188
GATase1_PfpI_2	cd03139	2e-05	6	187
GATase1_PfpI_3	cd03140	0.00023	6	176
GATase1_Hsp31_like	cd03141	2.6e-05	6	172
GATase1_EcHsp31_like	cd03148	0.00039	9	172
GATase1_AraC_ArgR_li	cd03136	8.3e-08	23	188
DJ-1_PfpI	pfam01965	2.4e-46	32	173

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_020499	Polymorphism	p.ALA171SER	N/A
Swiss-Prot	VAR_020495	Disease	p.ALA104THR	Parkinson disease 7 (PARK7)
Swiss-Prot	VAR_020494	Polymorphism	p.ARG98GLN	N/A
Swiss-Prot	VAR_020496	Disease	p.ASP149ALA	Parkinson disease 7 (PARK7)
Swiss-Prot	VAR_020493	Disease	p.GLU64ASP	Parkinson disease 7 (PARK7)
Swiss-Prot	VAR_034801	Polymorphism	p.GLU163LYS	N/A
Swiss-Prot	VAR_020497	Polymorphism	p.GLY150SER	N/A
Swiss-Prot	VAR_020498	Disease	p.LEU166PRO	Parkinson disease 7 (PARK7)
Swiss-Prot	VAR_020492	Disease	p.MET26ILE	Parkinson disease 7 (PARK7)
OMIM	602533.0007	Disease	p.ALA39SER	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1
OMIM	602533.0004	Disease	p.ASP149ALA	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	602533.0005	Disease	p.GLU64ASP	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	602533.0002	Disease	p.LEU166PRO	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	602533.0003	Disease	p.MET26ILE	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET

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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