Results for the protein: P00492

Results for the Protein: P00492

123497

3251

HPRT1

NCBI, UniProt

HPRT_HUMAN RecName: Full=Hypoxanthine-guanine phosphoribosyltransferase; Short=HGPRT; Short=HGPRTase

Known Diseases associated with this Protein:
GOUT HPRT-RELATED (GOUT-HPRT)
LESCH-NYHAN SYNDROME (LNS)

50

3

0

0

53

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Default View:	Swiss-Prot Protein: P00492 Identical to: NP_000185 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006763	Disease	p.ALA50PRO	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006787	Disease	p.ALA161SER	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006762	Disease	p.ALA50VAL	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006764	Disease	p.ARG51GLY	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006761	Disease	p.ARG48HIS	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006760	Disease	p.ARG45LYS	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006765	Disease	p.ARG51PRO	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006798	Disease	p.ASP194ASN	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006802	Disease	p.ASP201ASN	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006797	Disease	p.ASP194GLU	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006784	Disease	p.ASP135GLY	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006801	Disease	p.ASP201GLY	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006766	Polymorphism	p.ASP52GLY	N/A
Swiss-Prot	VAR_006792	Disease	p.ASP177TYR	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006803	Disease	p.ASP201TYR	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006791	Disease	p.ASP177VAL	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006754	Disease	p.ASP20VAL	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006777	Disease	p.ASP80VAL	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006755	Disease	p.CYS23TRP	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006806	Disease	p.CYS206TYR	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006771	Disease	p.GLY58ARG	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006774	Disease	p.GLY71ARG	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006752	Disease	p.GLY16ASP	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006750	Disease	p.GLY7ASP	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006773	Disease	p.GLY70GLU	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006753	Disease	p.GLY16SER	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006805	Disease	p.HIS204ARG	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006772	Polymorphism	p.HIS61ARG	N/A
Swiss-Prot	VAR_006804	Disease	p.HIS204ASP	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006782	Disease	p.ILE132MET	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006757	Disease	p.ILE42PHE	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006783	Disease	p.ILE132THR	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006796	Disease	p.ILE183THR	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006758	Disease	p.ILE42THR	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006756	Disease	p.LEU41PRO	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006781	Disease	p.LEU131SER	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006776	Disease	p.LEU78VAL	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006769	Disease	p.MET54LEU	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006785	Disease	p.MET143LYS	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006770	Disease	p.MET57THR	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006775	Disease	p.PHE74LEU	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006800	Disease	p.PHE199VAL	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006790	Disease	p.PRO176LEU	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006778	Disease	p.SER104ARG	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006788	Disease	p.SER162ARG	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006779	Disease	p.SER110LEU	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006789	Disease	p.THR168ILE	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006799	Disease	p.TYR195CYS	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006795	Polymorphism	p.VAL188ALA	N/A
Swiss-Prot	VAR_006767	Disease	p.VAL53ALA	Gout HPRT-related (GOUT-HPRT)
Swiss-Prot	VAR_006780	Disease	p.VAL130ASP	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006751	Disease	p.VAL8GLY	Lesch-Nyhan syndrome (LNS)
Swiss-Prot	VAR_006768	Disease	p.VAL53MET	Gout HPRT-related (GOUT-HPRT)

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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