PDB ID 1HMP     CHAIN A
Protein name HYPOXANTHINE GUANINE PHOSPHORIBOSYL-TRANSFERASE
Uniprot Accession P00492
The number of similar proteins 69
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
1HMP (CHAIN: A)
1 P00492  
2 Monomeric state
3 P00492   P00492  
4 P00492   P00492   P00492  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   ATRSPGVVIS   DDEPGYDLDL   FCIPNHYAED   LERVFIPHGL   IMDRTERLAR   50
51   DVMKEMGGHH   IVALCVLKGG   YKFFADLLDY   IKALNRNSDR   SIPMTVDFIR   100
101   LKSYCNDQST   GDIKVIGGDD   LSTLTGKNVL   IVEDIIDTGK   TMQTLLSLVR   150
151   QYNPKMVKVA   SLLVKRTPRS   VGYKPDFVGF   EIPDKFVVGY   ALDYNEYFRD   200
201   LNHVCVISET   GKAKYKA         250

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
4_SER CYS 8.3kJPN
chrX:133594354 		-
- 0.0001 -
6_GLY ASP VAR_006750 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
7_VAL GLY VAR_006751 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
15_GLY ASP VAR_006752 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
15_GLY SER VAR_006753 rs137852499
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
15_GLY SER ClinVar
chrX:133607407 		rs137852499
Pathogenic; other - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT URANGAN [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|]
15_GLY VAL ClinVar
chrX:133607408 		rs1135401801
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
19_ASP VAL VAR_006754 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
22_CYS TRP VAR_006755 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
22_CYS PHE VAR_071610 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
39_GLY TER ClinVar
chrX:133607479 		rs2124290355
Pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
40_LEU PRO VAR_006756 rs137852480
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
40_LEU PRO ClinVar
chrX:133607483 		rs137852480
Pathogenic; other - Lesch-Nyhan syndrome|HPRT DETROIT [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|]
41_ILE PHE VAR_006757 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
41_ILE THR VAR_006758 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
43_ASP TYR VAR_071611 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
44_ARG LYS VAR_006760 rs137852491
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
44_ARG LYS ClinVar
chrX:133607495 		rs137852491
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
46_GLU VAL ClinVar
chrX:133609216 		-
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Nephrolithiasis/nephrocalcinosis [MedGen:CN580796]
47_ARG HIS VAR_006761 rs387906725
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
47_ARG HIS ClinVar
chrX:133609219 		rs387906725
Pathogenic - Lesch-nyhan syndrome, neurologic variant|Lesch-Nyhan syndrome [MedGen:C1845892|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|not provided|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT1-Related Disorders|HPRT1-related condition [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|MedGen:C3661900|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233||]
48_LEU PHE ClinVar
chrX:133609221 		rs886041298
Pathogenic - not provided [MedGen:CN517202]
49_ALA VAL VAR_006762 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
49_ALA PRO VAR_006763 rs1556026984
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
49_ALA PRO ClinVar
chrX:133609224 		rs1556026984
Likely pathogenic - Inborn genetic diseases|Inborn genetic diseases [MeSH:D030342,MedGen:C0950123|MeSH:D030342,MedGen:C0950123]; Nephrolithiasis/nephrocalcinosis [MedGen:CN580796]
50_ARG GLY VAR_006764 rs137852494
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
50_ARG PRO VAR_006765 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
50_ARG GLY ClinVar
chrX:133609227 		rs137852494
Pathogenic; other - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT TORONTO [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|]
50_ARG TER ClinVar
chrX:133609227 		rs137852494
Pathogenic - Lesch-Nyhan syndrome|HPRT FUJIMI|not provided|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510||MedGen:C3661900|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome|Microcephaly [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563]
51_ASP GLY VAR_006766 rs137852502
LB/B - -
52_VAL ALA VAR_006767 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
52_VAL MET VAR_006768 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
53_MET LEU VAR_006769 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
56_MET THR VAR_006770 rs137852495
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
56_MET THR ClinVar
chrX:133609246 		rs137852495
Pathogenic; other - Lesch-nyhan syndrome, neurologic variant|HPRT MONTREAL|HPRT1-Related Disorder [MedGen:C1845892||]
57_GLY ARG VAR_006771 rs137852500
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
57_GLY ARG ClinVar
chrX:133609248 		rs137852500
Pathogenic; other - HPRT TOOWONG|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
59_HIS ARG VAR_071612 rs1228634091
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
59_HIS ARG 8.3kJPN
chrX:133609255 		rs1228634091
- 0.0003 -
60_HIS ARG VAR_006772 -
US - -
63_ALA PRO VAR_071613 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
64_LEU PRO VAR_071614 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
64_LEU PHE ClinVar
chrX:133609269 		rs137852506
Pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
67_LEU PHE ClinVar
chrX:133609278 		rs886041930
Pathogenic - not provided [MedGen:CN517202]
67_LEU PRO ClinVar
chrX:133609279 		-
Pathogenic - not provided [MedGen:CN517202]
69_GLY GLU VAR_006773 rs137852487
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
69_GLY GLU ClinVar
chrX:133609285 		rs137852487
Pathogenic - HPRT NEW HAVEN|Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
70_GLY ARG VAR_006774 rs137852488
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
70_GLY ARG ClinVar
chrX:133609287 		rs137852488
Likely pathogenic - HPRT YALE|Lesch-Nyhan syndrome|not provided [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MedGen:CN517202]
70_GLY VAL ClinVar
chrX:133609288 		rs2124291450
Pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
71_TYR CYS VAR_071615 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
73_PHE LEU VAR_006775 rs137852481
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
73_PHE LEU ClinVar
chrX:133609298 		rs137852481
Pathogenic; other - HPRT FLINT|Lesch-Nyhan syndrome [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
73_PHE CYS ClinVar
chrX:133609297 		rs1602741150
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
77_LEU VAL VAR_006776 rs137852501
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
77_LEU GLN VAR_071616 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
77_LEU VAL ClinVar
chrX:133609308 		rs137852501
Pathogenic; other - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT SWAN [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|]
77_LEU PRO ClinVar
chrX:133609309 		rs2124291470
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
79_ASP VAL VAR_006777 rs137852478
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
79_ASP VAL ClinVar
chrX:133609315 		rs137852478
Likely pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT ARLINGTON|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233||MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
103_SER ARG VAR_006778 rs137852485
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
103_SER ARG ClinVar
chrX:133609388 		rs137852485
Pathogenic; other - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT MUNICH [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|]
108_GLN TER ClinVar
chrX:133620501 		rs137852489
Pathogenic - Lesch-Nyhan syndrome|Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
109_SER LEU VAR_006779 rs137852482
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
109_SER LEU ClinVar
chrX:133620505 		rs137852482
Likely pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT LONDON|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233||MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
115_VAL ILE 8.3kJPN
chrX:133620522 		-
- 0.0001 -
122_SER TER ClinVar
chrX:133620544 		rs369065223
Pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
123_THR PRO VAR_071618 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
123_THR ALA 8.3kJPN
chrX:133620546 		rs1292536313
- 0.0001 -
129_VAL ASP VAR_006780 rs137852483
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
129_VAL ASP ClinVar
chrX:133624222 		rs137852483
Pathogenic; other - HPRT MIDLAND|Lesch-Nyhan syndrome [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
130_LEU SER VAR_006781 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
131_ILE MET VAR_006782 rs137852477
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
131_ILE THR VAR_006783 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
131_ILE MET ClinVar
chrX:133624229 		rs137852477
Pathogenic; other - HPRT ANN ARBOR|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
134_ASP GLY VAR_006784 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
134_ASP TYR ClinVar
chrX:133627538 		-
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
142_MET LYS VAR_006785 rs137852496
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
142_MET LYS ClinVar
chrX:133627563 		rs137852496
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
143_GLN TER ClinVar
chrX:133627565 		rs2124302024
Pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
146_LEU PRO VAR_071619 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
151_GLN TER ClinVar
chrX:133627589 		rs1569359021
Pathogenic - not provided [MedGen:CN517202]
152_TYR TER ClinVar
chrX:133627594 		rs137852505
Pathogenic; other - Lesch-Nyhan syndrome|HPRT PARIS [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|]
158_LYS GLU VAR_071620 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
160_ALA SER VAR_006787 rs137852484
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
160_ALA SER ClinVar
chrX:133627616 		rs137852484
Likely pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT MILWAUKEE|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233||MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
160_ALA THR ClinVar
chrX:133627616 		rs137852484
Likely pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
161_SER ARG VAR_006788 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
167_THR ILE VAR_006789 rs137852498
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
167_THR ILE ClinVar
chrX:133632437 		rs137852498
Pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
168_PRO ALA 8.3kJPN
chrX:133632439 		rs534390401
- 0.0002 -
169_ARG TER ClinVar
chrX:133632442 		rs137852497
Pathogenic - Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
175_PRO LEU VAR_006790 rs137852493
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
175_PRO LEU ClinVar
chrX:133632461 		rs137852493
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
176_ASP VAL VAR_006791 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
176_ASP TYR VAR_006792 rs137852492
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
176_ASP TYR ClinVar
chrX:133632463 		rs137852492
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
179_GLY GLU ClinVar
chrX:133632644 		rs2124305307
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
182_ILE THR VAR_006796 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
184_ASP GLY VAR_071622 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
187_VAL ALA VAR_006795 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
188_VAL ALA ClinVar
chrX:133632671 		rs1131691486
Likely pathogenic - not provided [MedGen:CN517202]
189_GLY TER ClinVar
chrX:133632673 		-
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
191_ALA VAL VAR_071623 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
193_ASP GLU VAR_006797 rs137852504
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
193_ASP ASN VAR_006798 rs267606863
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
193_ASP ASN ClinVar
chrX:133632685 		rs267606863
Pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
193_ASP GLU ClinVar
chrX:133632687 		rs137852504
Pathogenic; other - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT MOOSE JAW [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|]
193_ASP HIS ClinVar
chrX:133632685 		rs267606863
Pathogenic - not provided [MedGen:CN517202]
193_ASP TYR ClinVar
chrX:133632685 		-
Likely pathogenic - Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
194_TYR CYS VAR_006799 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
198_PHE VAL VAR_006800 rs137852486
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
198_PHE VAL ClinVar
chrX:133632700 		rs137852486
Pathogenic; other - Lesch-Nyhan syndrome|HPRT NEW BRITON [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|]
200_ASP GLY VAR_006801 rs137852479
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
200_ASP ASN VAR_006802 -
LP/P - Hyperuricemia, HPRT-related (HRH) [MIM:300323]
200_ASP TYR VAR_006803 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
200_ASP GLY ClinVar
chrX:133632707 		rs137852479
Pathogenic; other - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT ASHVILLE [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|]
203_HIS ASP VAR_006804 rs137852490
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
203_HIS ARG VAR_006805 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
203_HIS ASP ClinVar
chrX:133634060 		rs137852490
Likely pathogenic - Lesch-Nyhan syndrome|Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]
203_HIS TYR ClinVar
chrX:133634060 		rs137852490
Likely pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
203_HIS LEU ClinVar
chrX:133634061 		-
Pathogenic - Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]
205_CYS TYR VAR_006806 -
LP/P - Lesch-Nyhan syndrome (LNS) [MIM:300322]
(Powered by wupsivus)

Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.