Results for the protein: Q01959

Results for the Protein: Q01959

266667

6531

SLC6A3

NCBI, UniProt

SC6A3_HUMAN RecName: Full=Sodium-dependent dopamine transporter; Short=DA transporter; Short=DAT; AltName: Full=Solute carrier family 6 member 3

Known Diseases associated with this Protein:
PARKINSONISM-DYSTONIA INFANTILE (PKDYS)
PARKINSONISM-DYSTONIA, INFANTILE

4

5

2

1

6

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Default View:	Swiss-Prot Protein: Q01959 Identical to: NP_001035 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_014180	Polymorphism	p.ARG237GLN	N/A
Swiss-Prot	VAR_036159	Polymorphism	p.ARG544SER	N/A
dbSNP	rs6880875	Polymorphism	p.GLN509HIS	N/A
Swiss-Prot	VAR_036158	Polymorphism	p.GLY121SER	N/A
Swiss-Prot	VAR_063771	Disease	p.LEU368GLN	Parkinsonism-dystonia infantile (PKDYS)
Swiss-Prot	VAR_063772	Disease	p.PRO395LEU	Parkinsonism-dystonia infantile (PKDYS)
Swiss-Prot	VAR_064580	Polymorphism	p.VAL471ILE	N/A
OMIM	126455.0002	Disease	p.LEU368GLN	PARKINSONISM-DYSTONIA, INFANTILE
OMIM	126455.0003	Disease	p.PRO395LEU	PARKINSONISM-DYSTONIA, INFANTILE

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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