Results for the protein: Q96QK1

Results for the Protein: Q96QK1

25453321

55737

VPS35

NCBI, UniProt

VPS35_HUMAN RecName: Full=Vacuolar protein sorting-associated protein 35; Short=hVPS35; AltName: Full=Maternal-embryonic 3; AltName: Full=Vesicle protein sorting 35

Known Diseases associated with this Protein:
PARKINSON DISEASE 17
PARKINSON DISEASE 17 (PARK17)

2

9

1

0

10

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Default View: Vps35 - pfam03635	Swiss-Prot Protein: Q96QK1 Identical to: NP_060676 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066660	Polymorphism	p.ALA737VAL	N/A
Swiss-Prot	VAR_066658	Polymorphism	p.ARG524TRP	N/A
Swiss-Prot	VAR_066659	Disease	p.ASP620ASN	Parkinson disease 17 (PARK17)
Swiss-Prot	VAR_066653	Polymorphism	p.GLY51SER	N/A
Swiss-Prot	VAR_066656	Polymorphism	p.ILE241MET	N/A
Swiss-Prot	VAR_066661	Polymorphism	p.LEU774MET	N/A
Swiss-Prot	VAR_066654	Polymorphism	p.MET57ILE	N/A
Swiss-Prot	VAR_066657	Polymorphism	p.PRO316SER	N/A
Swiss-Prot	VAR_066655	Polymorphism	p.THR82ARG	N/A
Swiss-Prot	VAR_054046	Polymorphism	p.VAL602ASP	N/A
OMIM	601501.0001	Disease	p.ASP620ASN	PARKINSON DISEASE 17

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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