Results for the protein: Q9NRM0

Results for the Protein: Q9NRM0

300669647

56606

SLC2A9

NCBI, UniProt

GTR9_HUMAN RecName: Full=Solute carrier family 2, facilitated glucose transporter member 9; AltName: Full=Glucose transporter type 9; Short=GLUT-9

Known Diseases associated with this Protein:
HYPOURICEMIA RENAL 2 (RHUC2)
HYPOURICEMIA, RENAL, 2

8

10

3

4

11

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Default View: ProP - COG0477 Sugar_tr - pfam00083 MFS - cd06174 MFS_1 - pfam07690 AraJ - COG2814	Swiss-Prot Protein: Q9NRM0 Identical to: NP_064425 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MFS	cd06174	1.9e-41	61	499
Sugar_tr	pfam00083	1.3e-108	59	514
AraJ	COG2814	7.7e-05	95	507
MFS_1	pfam07690	6.9e-09	64	466

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065774	Disease	p.ARG171CYS	Hypouricemia renal 2 (RHUC2)
Swiss-Prot	VAR_065775	Disease	p.ARG198CYS	Hypouricemia renal 2 (RHUC2)
dbSNP	rs3733591	Polymorphism	p.ARG294HIS	N/A
Swiss-Prot	VAR_045653	Polymorphism	p.ARG300HIS	N/A
Swiss-Prot	VAR_065776	Disease	p.ARG380TRP	Hypouricemia renal 2 (RHUC2)
Swiss-Prot	VAR_045652	Polymorphism	p.ASP281HIS	N/A
Swiss-Prot	VAR_045649	Polymorphism	p.GLU191ASP	N/A
Swiss-Prot	VAR_045650	Polymorphism	p.GLY216ARG	N/A
dbSNP	rs2276961	Polymorphism	p.GLY25ARG	N/A
Swiss-Prot	VAR_065772	Disease	p.LEU75ARG	Hypouricemia renal 2 (RHUC2)
dbSNP	rs2280205	Polymorphism	p.PRO350LEU	N/A
Swiss-Prot	VAR_045648	Polymorphism	p.SER22ASN	N/A
Swiss-Prot	VAR_065773	Disease	p.THR125MET	Hypouricemia renal 2 (RHUC2)
Swiss-Prot	VAR_045651	Polymorphism	p.THR275MET	N/A
dbSNP	rs16890979	Polymorphism	p.VAL282ILE	N/A
OMIM	606142.0005	Disease	p.ARG198CYS	HYPOURICEMIA, RENAL, 2
OMIM	606142.0004	Disease	p.ARG380TRP	HYPOURICEMIA, RENAL, 2
OMIM	606142.0006	Disease	p.PRO412ARG	HYPOURICEMIA, RENAL, 2

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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