Results for the protein: Q9BZW2

Results for the Protein: Q9BZW2

23396850

6561

SLC13A1

NCBI, UniProt

S13A1_HUMAN RecName: Full=Solute carrier family 13 member 1; AltName: Full=Renal sodium/sulfate cotransporter; Short=Na(+)/sulfate cotransporter; Short=hNaSi-1

			0 9 0 2 7

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Default View: CitT - COG0471 Na_sulph_symp - pfam00939 SLC13_permease - cd01115 ArsB_NhaD_permease - cd00625	Swiss-Prot Protein: Q9BZW2 Identical to: NP_071889 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SLC13_permease	cd01115	4.6e-68	38	573
ArsB_NhaD_permease	cd00625	5e-37	45	569
Na_sulph_symp	pfam00939	8.5e-48	5	579

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_029251	Polymorphism	p.ARG277HIS	N/A
dbSNP	rs2140516	Polymorphism	p.ASN174SER	N/A
Swiss-Prot	VAR_029249	Polymorphism	p.GLN157GLU	N/A
Swiss-Prot	VAR_029253	Polymorphism	p.ILE392THR	N/A
Swiss-Prot	VAR_029247	Polymorphism	p.PHE42LEU	N/A
dbSNP	rs10231144	Polymorphism	p.THR240MET	N/A
Swiss-Prot	VAR_029250	Polymorphism	p.TYR205CYS	N/A
Swiss-Prot	VAR_029252	Polymorphism	p.VAL332ALA	N/A
Swiss-Prot	VAR_029248	Polymorphism	p.VAL44ILE	N/A

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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