PDB ID 1D6N CHAIN A
Protein name PROTEIN (HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE)
Uniprot Accession P00492
The number of similar proteins 65
The number of binding states 4
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1D6N (CHAIN: A)
1 P00492  
2 Monomeric state
3 P00492   P00492  
4 P00492   P00492  

P00492  
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partners
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Sequence information
1   SPGVVISDDE   PGYDLDLFCI   PNHYAEDLER   VFIPHGLIMD   RTERLARDVM   50
51   KEMGGHHIVA   LCVLAGGYKF   FADLLDYIKA   LNRNSDRSIP   MTVDFIRLGS   100
101   YCNDQSTGDI   KVIGGDDLST   LTGKNVLIVE   DIIDTGKTMQ   TLLSLVRQYN   150
151   PKMVKVASLL   VKRTPRSVGY   KPDFVGFEIP   DKFVVGYALD   YNEYFRDLNH   200
201   VCVISETGKA   KYKA         250
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
6_GLY ASP VAR_006750 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
7_VAL GLY VAR_006751 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
15_GLY SER ClinVar
chrX:133607407
rs137852499 Pathogenic, other HPRT URANGAN [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
15_GLY VAL ClinVar
chrX:133607408
rs1135401801 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
15_GLY ASP VAR_006752 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
19_ASP VAL VAR_006754 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
22_CYS TRP VAR_006755 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
22_CYS PHE VAR_071610 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
40_LEU PRO ClinVar
chrX:133607483
rs137852480 Pathogenic, other HPRT DETROIT [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
41_ILE PHE VAR_006757 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
41_ILE THR VAR_006758 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
43_ASP TYR VAR_071611 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
44_ARG LYS ClinVar
chrX:133607495
rs137852491 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
47_ARG HIS ClinVar
chrX:133609219
rs387906725 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]; Lesch-nyhan syndrome, neurologic variant [MedGen:C1845893]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
48_LEU PHE ClinVar
chrX:133609221
rs886041298 Pathogenic not provided [MedGen:CN517202]
49_ALA PRO ClinVar
chrX:133609224
rs1556026984 Likely pathogenic History of neurodevelopmental disorder [MedGen:C2711754]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
49_ALA VAL VAR_006762 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
49_ALA PRO VAR_006763 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
50_ARG GLY ClinVar
chrX:133609227
rs137852494 Pathogenic, other HPRT TORONTO [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
50_ARG TER ClinVar
chrX:133609227
rs137852494 Pathogenic HPRT FUJIMI [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]; not provided [MedGen:CN517202]
50_ARG PRO VAR_006765 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
51_ASP GLY ClinVar
chrX:133609231
rs137852502 Pathogenic, other HPRT EDINBURGH [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
52_VAL ALA VAR_006767 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
52_VAL MET VAR_006768 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
53_MET LEU VAR_006769 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
56_MET THR ClinVar
chrX:133609246
rs137852495 Pathogenic, other HPRT MONTREAL [na]; Lesch-nyhan syndrome, neurologic variant [MedGen:C1845893]
57_GLY ARG ClinVar
chrX:133609248
rs137852500 Pathogenic, other HPRT TOOWONG [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
59_HIS ARG VAR_071612 rs1228634091 Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
60_HIS ARG VAR_006772 - Unclassified -
63_ALA PRO VAR_071613 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
64_LEU PHE ClinVar
chrX:133609269
rs137852506 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
64_LEU PRO VAR_071614 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
67_LEU PHE ClinVar
chrX:133609278
rs886041930 Pathogenic not provided [MedGen:CN517202]
69_GLY GLU ClinVar
chrX:133609285
rs137852487 Pathogenic, other HPRT NEW HAVEN [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
70_GLY ARG ClinVar
chrX:133609287
rs137852488 Likely pathogenic HPRT YALE [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
71_TYR CYS VAR_071615 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
73_PHE LEU ClinVar
chrX:133609298
rs137852481 Pathogenic, other HPRT FLINT [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
77_LEU VAL ClinVar
chrX:133609308
rs137852501 Pathogenic, other HPRT SWAN [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
77_LEU GLN VAR_071616 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
79_ASP VAL ClinVar
chrX:133609315
rs137852478 Pathogenic, other HPRT ARLINGTON [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
103_SER ARG ClinVar
chrX:133609388
rs137852485 Pathogenic, other HPRT MUNICH [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
108_GLN TER ClinVar
chrX:133620501
rs137852489 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
109_SER LEU ClinVar
chrX:133620505
rs137852482 Pathogenic, other HPRT LONDON [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
122_SER TER ClinVar
chrX:133620544
- Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
123_THR PRO VAR_071618 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
129_VAL ASP ClinVar
chrX:133624222
rs137852483 Pathogenic, other HPRT MIDLAND [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
130_LEU SER VAR_006781 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
131_ILE MET ClinVar
chrX:133624229
rs137852477 Pathogenic, other HPRT ANN ARBOR [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
131_ILE THR VAR_006783 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
134_ASP GLY VAR_006784 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
139_GLY ASP ClinVar
chrX:133627554
rs137852503 Pathogenic, other HPRT TOKYO [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
142_MET LYS ClinVar
chrX:133627563
rs137852496 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
146_LEU PRO VAR_071619 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
152_TYR TER ClinVar
chrX:133627594
rs137852505 Pathogenic, other HPRT PARIS [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
158_LYS GLU VAR_071620 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
160_ALA SER ClinVar
chrX:133627616
rs137852484 Pathogenic, other HPRT MILWAUKEE [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
161_SER ARG VAR_006788 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
167_THR ILE ClinVar
chrX:133632437
rs137852498 Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
169_ARG TER ClinVar
chrX:133632442
rs137852497 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
175_PRO LEU ClinVar
chrX:133632461
rs137852493 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
176_ASP TYR ClinVar
chrX:133632463
rs137852492 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
176_ASP VAL VAR_006791 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
182_ILE THR VAR_006796 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
184_ASP GLY VAR_071622 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
187_VAL ALA VAR_006795 - Unclassified -
188_VAL ALA ClinVar
chrX:133632671
rs1131691486 Likely pathogenic not provided [MedGen:CN517202]
191_ALA VAL VAR_071623 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
193_ASP ASN ClinVar
chrX:133632685
rs267606863 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
193_ASP GLU ClinVar
chrX:133632687
rs137852504 Pathogenic, other HPRT MOOSE JAW [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
193_ASP HIS ClinVar
chrX:133632685
rs267606863 Pathogenic not provided [MedGen:CN517202]
194_TYR CYS VAR_006799 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
198_PHE VAL ClinVar
chrX:133632700
rs137852486 Pathogenic, other HPRT NEW BRITON [na]; Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
200_ASP GLY ClinVar
chrX:133632707
rs137852479 Pathogenic, other HPRT ASHVILLE [na]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MedGen:C0268117,OMIM:300323,Orphanet:ORPHA79233,SNOMED CT:238007004]
200_ASP ASN VAR_006802 - Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
200_ASP TYR VAR_006803 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
203_HIS ASP ClinVar
chrX:133634060
rs137852490 Pathogenic Lesch-Nyhan syndrome [MedGen:C0023374,OMIM:300322,Orphanet:ORPHA510,SNOMED CT:10406007]
203_HIS ARG VAR_006805 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
205_CYS TYR VAR_006806 - Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]