Results for the protein: O60733

Results for the Protein: O60733

6685712

8398

PLA2G6

NCBI, UniProt

PLPL9_HUMAN RecName: Full=85/88 kDa calcium-independent phospholipase A2; Short=CaI-PLA2; AltName: Full=Group VI phospholipase A2; Short=GVI PLA2; AltName: Full=Intracellular membrane-associated calcium-independent phospholipase A2 beta; Short=iPLA2-beta; AltName: Full=Patatin-like phospholipase domain-containing protein 9; Short=PNPLA9

Known Diseases associated with this Protein:
  KARAK SYNDROME
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (NBIA2A)
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (NBIA2B)
  PARKINSON DISEASE 14
  PARKINSON DISEASE 14 (PARK14)

17

6

12

1

10

Tips:

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Default View: ANK - smart00248	Swiss-Prot Protein: O60733 Identical to: NP_003551 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANK	smart00248	2.1e-05	316	345
ANK	smart00248	2.5e-06	349	378

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_018965	Polymorphism	p.ALA343THR	N/A
Swiss-Prot	VAR_018963	Polymorphism	p.ARG70GLN	N/A
Swiss-Prot	VAR_062530	Disease	p.ARG741GLN	Parkinson disease 14 (PARK14)
Swiss-Prot	VAR_018962	Polymorphism	p.ARG63GLY	N/A
Swiss-Prot	VAR_029373	Disease	p.ARG632TRP	Neurodegeneration with brain iron accumulation 2B (NBIA2B)
Swiss-Prot	VAR_062531	Disease	p.ARG747TRP	Parkinson disease 14 (PARK14)
Swiss-Prot	VAR_018964	Polymorphism	p.ASP183ASN	N/A
Swiss-Prot	VAR_029372	Disease	p.LYS545THR	Neurodegeneration with brain iron accumulation 2B (NBIA2B)
Swiss-Prot	VAR_037903	Polymorphism	p.SER774THR	N/A
Swiss-Prot	VAR_029371	Disease	p.VAL310GLU	Neurodegeneration with brain iron accumulation 2A (NBIA2A)
dbSNP	rs11570605	Polymorphism	p.VAL58ILE	N/A
OMIM	603604.0008	Disease	p.ALA80THR	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
OMIM	603604.0011	Disease	p.ARG635GLN	PARKINSON DISEASE 14
OMIM	603604.0009	Disease	p.ARG741GLN	PARKINSON DISEASE 14
OMIM	603604.0015	Disease	p.ARG37TER	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
OMIM	603604.0005	Disease	p.ARG632TRP	KARAK SYNDROME
OMIM	603604.0010	Disease	p.ARG747TRP	PARKINSON DISEASE 14
OMIM	603604.0016	Disease	p.ASP331TYR	PARKINSON DISEASE 14
OMIM	603604.0012	Disease	p.GLN452TER	PARKINSON DISEASE 14
OMIM	603604.0002	Disease	p.LYS545THR	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
OMIM	603604.0013	Disease	p.PHE72LEU	PARKINSON DISEASE 14
OMIM	603604.0001 603604.0006	Disease	p.TYR790TER	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
OMIM	603604.0003	Disease	p.VAL310GLU	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A

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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