Results for the protein: Q08357

Results for the Protein: Q08357

74735615

6575

SLC20A2

NCBI, UniProt

S20A2_HUMAN RecName: Full=Sodium-dependent phosphate transporter 2; AltName: Full=Gibbon ape leukemia virus receptor 2; Short=GLVR-2; AltName: Full=Phosphate transporter 2; Short=PiT-2; Short=Pit2; Short=hPit2; AltName: Full=Solute carrier family 20 member 2

Known Diseases associated with this Protein:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (IBGC1)

10

1

5

1

5

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Default View: PitA - COG0306 PHO4 - pfam01384	Swiss-Prot Protein: Q08357 Identical to: NP_006740 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PHO4	pfam01384	8.8e-195	24	637

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067547	Disease	p.GLU575LYS	Basal ganglia calcification, idiopathic, 1 (IBGC1)
Swiss-Prot	VAR_067546	Disease	p.GLY498ARG	Basal ganglia calcification, idiopathic, 1 (IBGC1)
dbSNP	rs73675069	Polymorphism	p.GLY304SER	N/A
Swiss-Prot	VAR_067549	Disease	p.SER601LEU	Basal ganglia calcification, idiopathic, 1 (IBGC1)
Swiss-Prot	VAR_067550	Disease	p.SER601TRP	Basal ganglia calcification, idiopathic, 1 (IBGC1)
Swiss-Prot	VAR_067548	Disease	p.THR595MET	Basal ganglia calcification, idiopathic, 1 (IBGC1)
OMIM	158378.0004	Disease	p.GLU575LYS	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
OMIM	158378.0001	Disease	p.GLY498ARG	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
OMIM	158378.0003	Disease	p.SER601LEU	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
OMIM	158378.0002	Disease	p.SER601TRP	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
OMIM	158378.0005	Disease	p.THR595MET	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1

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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