Results for the protein: Q8N130

Results for the Protein: Q8N130

313104149

142680

SLC34A3

NCBI, UniProt

NPT2C_HUMAN RecName: Full=Sodium-dependent phosphate transport protein 2C; Short=Sodium-phosphate transport protein 2C; AltName: Full=Na(+)-dependent phosphate cotransporter 2C; AltName: Full=Sodium/inorganic phosphate cotransporter IIC; AltName: Full=Sodium/phosphate cotransporter 2C; Short=Na(+)/Pi cotransporter 2C; Short=NaPi-2c; AltName: Full=Solute carrier family 34 member 3

Known Diseases associated with this Protein:
HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HHRH)

6

5

0

0

11

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Default View: NptA - COG1283 Na_Pi_cotrans - pfam02690	Swiss-Prot Protein: Q8N130 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Na_Pi_cotrans	pfam02690	2.4e-39	85	222
Na_Pi_cotrans	pfam02690	6.8e-18	341	477

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025714	Disease	p.ALA413GLU	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Swiss-Prot	VAR_025706	Polymorphism	p.ARG67HIS	N/A
Swiss-Prot	VAR_025713	Disease	p.ARG353LEU	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Swiss-Prot	VAR_025715	Disease	p.ARG468TRP	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Swiss-Prot	VAR_025711	Polymorphism	p.ASP237ASN	N/A
Swiss-Prot	VAR_025716	Polymorphism	p.GLU513VAL	N/A
Swiss-Prot	VAR_025708	Polymorphism	p.GLY180ALA	N/A
Swiss-Prot	VAR_025710	Disease	p.GLY196ARG	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Swiss-Prot	VAR_025712	Polymorphism	p.GLY337SER	N/A
Swiss-Prot	VAR_025709	Disease	p.SER192LEU	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Swiss-Prot	VAR_025707	Disease	p.SER138PHE	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

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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