Results for the protein: Q96S37

Results for the Protein: Q96S37

74732700

116085

SLC22A12

NCBI, UniProt

S22AC_HUMAN RecName: Full=Solute carrier family 22 member 12; AltName: Full=Organic anion transporter 4-like protein; AltName: Full=Renal-specific transporter; Short=RST; AltName: Full=Urate anion exchanger 1

Known Diseases associated with this Protein:
HYPOURICEMIA RENAL 1 (RHUC1)
HYPOURICEMIA, RENAL, 1

15

8

6

0

17

Tips:

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Default View: Sugar_tr - pfam00083 MFS - cd06174 MFS_1 - pfam07690	Swiss-Prot Protein: Q96S37 Identical to: NP_653186 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Sugar_tr	pfam00083	5.2e-07	106	530
MFS_1	pfam07690	1.9e-09	126	484

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036726	Polymorphism	p.ALA226VAL	N/A
Swiss-Prot	VAR_036722	Polymorphism	p.ARG92CYS	N/A
Swiss-Prot	VAR_036727	Polymorphism	p.ARG284GLY	N/A
Swiss-Prot	VAR_036737	Disease	p.ARG477HIS	Hypouricemia renal 1 (RHUC1)
Swiss-Prot	VAR_036721	Disease	p.ARG90HIS	Hypouricemia renal 1 (RHUC1)
Swiss-Prot	VAR_036729	Polymorphism	p.GLN297GLU	N/A
Swiss-Prot	VAR_036732	Polymorphism	p.GLN312LEU	N/A
Swiss-Prot	VAR_036734	Disease	p.GLN382LEU	Hypouricemia renal 1 (RHUC1)
Swiss-Prot	VAR_036730	Disease	p.GLU298ASP	Hypouricemia renal 1 (RHUC1)
Swiss-Prot	VAR_036728	Polymorphism	p.GLY290CYS	N/A
Swiss-Prot	VAR_036724	Disease	p.GLY164SER	Hypouricemia renal 1 (RHUC1)
Swiss-Prot	VAR_036720	Polymorphism	p.GLY65TRP	N/A
Swiss-Prot	VAR_036731	Polymorphism	p.ILE305SER	N/A
Swiss-Prot	VAR_036735	Disease	p.LEU418ARG	Hypouricemia renal 1 (RHUC1)
Swiss-Prot	VAR_036736	Disease	p.MET430THR	Hypouricemia renal 1 (RHUC1)
Swiss-Prot	VAR_036725	Disease	p.THR217MET	Hypouricemia renal 1 (RHUC1)
Swiss-Prot	VAR_036723	Disease	p.VAL138MET	Hypouricemia renal 1 (RHUC1)
OMIM	607096.0005	Disease	p.ARG90HIS	HYPOURICEMIA, RENAL, 1
OMIM	607096.0003	Disease	p.GLU298ASP	HYPOURICEMIA, RENAL, 1
OMIM	607096.0006	Disease	p.GLY361VAL	HYPOURICEMIA, RENAL, 1
OMIM	607096.0004	Disease	p.LEU418ARG	HYPOURICEMIA, RENAL, 1
OMIM	607096.0002	Disease	p.THR217MET	HYPOURICEMIA, RENAL, 1
OMIM	607096.0001	Disease	p.TRP258TER	HYPOURICEMIA, RENAL, 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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