PDB ID 1J04     CHAIN A
Protein name alanine--glyoxylate aminotransferase
Uniprot Accession P21549
The number of similar proteins 26
The number of binding states 3
The number of binding partners 2

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1J04 (CHAIN: A)
1 Monomeric state
2 P21549  
3 P21549   P50542  

Downdload

Format:

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Only interaction residues
#binding
partners
  2
  1
  0

Sequence information

1   MASHKLLVTP   PKALLKPLSI   PNQLLLGPGP   SNLPPRIMAA   GGLQMIGSMS   50
51   KDMYQIMDEI   KEGIQYVFQT   RNPLTLVISG   SGHCALEAAL   VNVLEPGDSF   100
101   LVGANGIWGQ   RAVDIGERIG   ARVHPMTKDP   GGHYTLQEVE   EGLAQHKPVL   150
151   LFLTHGESST   GVLQPLDGFR   ELCHRYKCLL   LVDSVASLGG   TPLYMDRQGI   200
201   DILYSGSQXA   LNAPPGTSLI   SFSDKAKKKM   YSRKTKPFSF   YLDIKWLANF   250
251   WGCDDQPRMY   HHTIPVISLY   SLRESLALIA   EQGLENSWRQ   HREAAAYLHG   300
301   RLQALGLQLF   VKDPALRLPT   VTTVAVPAGY   DWRDIVSYVI   DHFDIEIMGG   350
351   LGPSTGKVLR   IGLLGCNATR   ENVDRVTEAL   RAALQHCPKK   KL   400

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
8_VAL LEU ClinVar
chr2:241808304 		rs796052057
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
9_THR ASN VAR_060547 rs115014558
LB/B - -
9_THR ASN gnomAD
chr2:241808308 		rs115014558
- 0.00918601 -
10_PRO SER ClinVar
chr2:241808310 		rs180177191
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
10_PRO THR 8.3kJPN
chr2:241808310 		rs180177191
- 0.001 -
11_PRO LEU VAR_000587 rs34116584
LB/B - -
11_PRO ARG ClinVar
chr2:241808314 		rs34116584
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
11_PRO HIS gnomAD
chr2:241808314 		rs34116584
- 0.000381064 -
11_PRO ARG gnomAD
chr2:241808314 		rs34116584
- 0.000158101 -
11_PRO LEU gnomAD
chr2:241808314 		rs34116584
- 0.146993 -
11_PRO THR 8.3kJPN
chr2:241808313 		rs375712696
- - -
11_PRO HIS 8.3kJPN
chr2:241808314 		rs34116584
- - -
12_LYS ARG gnomAD
chr2:241808317 		rs142969817
- 0.00077211 -
22_ASN SER VAR_048236 rs34885252
LB/B - -
22_ASN SER gnomAD
chr2:241808347 		rs34885252
- 0.0166621 -
22_ASN SER 8.3kJPN
chr2:241808347 		rs34885252
- 0.0649 -
23_GLN TER ClinVar
chr2:241808349 		rs1575707182
Pathogenic - not provided [MedGen:CN517202]
25_LEU ARG ClinVar
chr2:241808356 		rs180177262
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
26_LEU PRO ClinVar
chr2:241808359 		rs180177268
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
27_GLY TRP ClinVar
chr2:241808361 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
35_PRO LEU 8.3kJPN
chr2:241808386 		rs779013628
- 0.0001 -
36_ARG CYS VAR_074582 rs180177157
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
36_ARG CYS ClinVar
chr2:241808388 		rs180177157
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
36_ARG HIS ClinVar
chr2:241808389 		rs180177162
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
36_ARG GLY ClinVar
chr2:241808388 		-
Likely pathogenic - not provided [MedGen:C3661900]
36_ARG PRO ClinVar
chr2:241808389 		-
Likely pathogenic - not provided [MedGen:C3661900]
36_ARG CYS 8.3kJPN
chr2:241808388 		rs180177157
- 0.0001 -
41_GLY ARG VAR_000588 rs121908523
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
41_GLY VAL VAR_010969 rs180177168
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
41_GLY GLU VAR_074583 rs180177168
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
41_GLY ARG ClinVar
chr2:241808403 		rs121908523
Pathogenic - Primary hyperoxaluria, type I|Nephrolithiasis [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|Human Phenotype Ontology:HP:0000102,Human Phenotype Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525]; Nephrocalcinosis|not provided|Primary hyperoxaluria [Human Phenotype Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
41_GLY VAL ClinVar
chr2:241808404 		rs180177168
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
41_GLY GLU ClinVar
chr2:241808404 		rs180177168
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
41_GLY ARG ClinVar
chr2:241808403 		-
Pathogenic/Likely pathogenic - not provided|Primary hyperoxaluria, type I [MedGen:C3661900|MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
42_GLY GLU ClinVar
chr2:241808407 		rs180177170
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
43_LEU GLN gnomAD
chr2:241808410 		rs768181954
- 0.000150052 -
44_GLN TER ClinVar
chr2:241808412 		rs180177172
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
47_GLY ARG VAR_074584 rs180177173
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
47_GLY ARG ClinVar
chr2:241808421 		rs180177173
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
47_GLY TRP ClinVar
chr2:241808421 		rs180177173
Likely pathogenic - not provided [MedGen:C3661900]
47_GLY GLU ClinVar
chr2:241808422 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
47_GLY ARG ClinVar
chr2:241808421 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
49_MET LEU gnomAD
chr2:241808427 		rs74205173
- 0.000497659 -
49_MET LEU 8.3kJPN
chr2:241808427 		rs74205173
- 0.0017 -
59_GLU LYS ClinVar
chr2:241808596 		rs767586362
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
59_GLU TER ClinVar
chr2:241808596 		rs767586362
Pathogenic - not provided [MedGen:C3661900]
63_GLY ARG ClinVar
chr2:241808608 		rs180177181
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
64_ILE ASN ClinVar
chr2:241808612 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
66_TYR TER ClinVar
chr2:241808619 		rs121908521
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
66_TYR TER ClinVar
chr2:241808619 		rs121908521
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
69_GLN TER ClinVar
chr2:241808626 		rs180177182
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
70_THR ASN ClinVar
chr2:241808630 		rs796052058
Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
72_ASN ILE ClinVar
chr2:241808636 		rs113879010
Pathogenic/Likely pathogenic - not provided|Primary hyperoxaluria, type I [MedGen:C3661900|MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
72_ASN ASP ClinVar
chr2:241808635 		rs754637713
Likely pathogenic - not provided [MedGen:C3661900]
72_ASN LYS ClinVar
chr2:241808637 		-
Likely pathogenic - not provided [MedGen:C3661900]
72_ASN LYS 8.3kJPN
chr2:241808637 		rs202108064
- 0.0002 -
81_SER TER ClinVar
chr2:241808663 		rs180177184
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
81_SER LEU ClinVar
chr2:241808663 		rs180177184
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
81_SER TRP ClinVar
chr2:241808663 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
82_GLY GLU VAR_008878 rs121908522
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
82_GLY ARG VAR_060548 rs180177185
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
82_GLY GLU ClinVar
chr2:241808666 		rs121908522
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
82_GLY ARG ClinVar
chr2:241808665 		rs180177185
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
82_GLY ARG ClinVar
chr2:241808665 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
83_HIS ARG ClinVar
chr2:241808669 		rs180177186
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
84_CYS TER ClinVar
chr2:241808673 		rs2058978388
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
85_ALA ASP ClinVar
chr2:241808675 		rs796052059
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
89_ALA VAL gnomAD
chr2:241808687 		rs200654123
- 0.00010759 -
89_ALA SER 8.3kJPN
chr2:241808686 		-
- 0.0002 -
95_GLU LYS ClinVar
chr2:241808704 		rs180177189
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
95_GLU TER ClinVar
chr2:241808704 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
98_ASP HIS ClinVar
chr2:241808713 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
101_LEU PRO ClinVar
chr2:241808723 		rs180177195
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
102_VAL ASP ClinVar
chr2:241808726 		rs1304689724
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
103_GLY ARG ClinVar
chr2:241808728 		rs2106427637
Likely pathogenic - not provided [MedGen:C3661900]
108_TRP ARG VAR_060549 rs180177197
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
108_TRP ARG ClinVar
chr2:241808743 		rs180177197
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
108_TRP TER ClinVar
chr2:241808744 		rs180177198
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
108_TRP CYS ClinVar
chr2:241808745 		rs796052060
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
108_TRP TER ClinVar
chr2:241808745 		-
Pathogenic - not provided [MedGen:C3661900]
109_GLY VAL ClinVar
chr2:241808747 		rs180177199
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
109_GLY GLU ClinVar
chr2:241808747 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
111_ARG TER ClinVar
chr2:241808752 		rs180177202
Pathogenic - Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416|MedGen:C3661900]
111_ARG GLN ClinVar
chr2:241808753 		rs180177203
Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
112_ALA ASP VAR_060550 rs796052061
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
112_ALA ASP ClinVar
chr2:241808756 		rs796052061
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
116_GLY ARG VAR_010971 rs180177207
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
116_GLY ARG ClinVar
chr2:241808767 		rs180177207
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided|Abnormality of metabolism/homeostasis [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|Human Phenotype Ontology:HP:0001939,Human Phenotype Ontology:HP:0002146,MedGen:C4021768]
116_GLY TRP ClinVar
chr2:241808767 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
117_GLU TER ClinVar
chr2:241808770 		rs180177208
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
118_ARG HIS ClinVar
chr2:241808774 		rs138025751
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
118_ARG SER ClinVar
chr2:241808773 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
120_GLY TER ClinVar
chr2:241808779 		rs747043550
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
122_ARG TER ClinVar
chr2:241810066 		rs180177210
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
124_HIS PRO ClinVar
chr2:241810073 		rs180177211
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
132_GLY SER 8.3kJPN
chr2:241810096 		-
- 0.0001 -
134_TYR TER ClinVar
chr2:241810104 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
137_GLN TER ClinVar
chr2:241810111 		rs180177214
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
138_GLU TER ClinVar
chr2:241810114 		rs2058986411
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
141_GLU ASP ClinVar
chr2:241810125 		rs180177217
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
147_LYS TER ClinVar
chr2:241810781 		rs1193344118
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
150_LEU PRO VAR_074585 rs180177222
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
150_LEU PRO ClinVar
chr2:241810791 		rs180177222
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
152_PHE ILE VAR_000589 rs121908524
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
152_PHE ILE ClinVar
chr2:241810796 		rs121908524
Pathogenic - Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
152_PHE CYS ClinVar
chr2:241810797 		rs765812098
Likely pathogenic - not provided [MedGen:C3661900]
153_LEU VAL VAR_060552 rs180177223
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
153_LEU VAL ClinVar
chr2:241810799 		rs180177223
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
153_LEU TER ClinVar
chr2:241810800 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
156_GLY ARG VAR_010972 rs121908530
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
156_GLY ARG ClinVar
chr2:241810808 		rs121908530
Pathogenic - Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
156_GLY ARG ClinVar
chr2:241810808 		rs121908530
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
156_GLY ALA ClinVar
chr2:241810809 		rs2058989559
Likely pathogenic - not provided [MedGen:C3661900]
157_GLU TER ClinVar
chr2:241810811 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
157_GLU GLN ClinVar
chr2:241810811 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
158_SER LEU VAR_060553 rs180177225
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
158_SER TER ClinVar
chr2:241810815 		rs180177225
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
158_SER LEU ClinVar
chr2:241810815 		rs180177225
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
161_GLY ARG VAR_060554 rs180177227
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
161_GLY CYS VAR_074586 rs180177227
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
161_GLY SER VAR_074587 rs180177227
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
161_GLY CYS ClinVar
chr2:241810823 		rs180177227
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
161_GLY SER ClinVar
chr2:241810823 		rs180177227
Pathogenic - Primary hyperoxaluria, type I|Nephrocalcinosis [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|Human Phenotype Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709]; Nephrolithiasis|not provided|Primary hyperoxaluria [Human Phenotype Ontology:HP:0000102,Human Phenotype Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
161_GLY ARG ClinVar
chr2:241810823 		rs180177227
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
161_GLY ASP ClinVar
chr2:241810824 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
164_GLN TER ClinVar
chr2:241810832 		-
Pathogenic/Likely pathogenic - not provided|Primary hyperoxaluria, type I [MedGen:C3661900|MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
166_LEU PRO VAR_074588 rs180177230
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
166_LEU PRO ClinVar
chr2:241810839 		rs180177230
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
170_GLY ARG ClinVar
chr2:241810850 		rs121908529
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria|AGXT-related condition [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416|]
170_GLY ARG ClinVar
chr2:241810850 		-
Pathogenic - not provided [MedGen:C3661900]
170_GLY ARG gnomAD
chr2:241810850 		rs121908529
- 0.00055999 -
173_CYS TYR VAR_060555 rs180177231
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
173_CYS TYR ClinVar
chr2:241810860 		rs180177231
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
173_CYS TER ClinVar
chr2:241810861 		rs180177232
Pathogenic - Primary hyperoxaluria, type I|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
173_CYS ARG ClinVar
chr2:241810859 		rs2106428650
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
176_TYR TER ClinVar
chr2:241812399 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
177_LYS TER ClinVar
chr2:241812400 		-
Pathogenic - not provided [MedGen:C3661900]
178_CYS TYR ClinVar
chr2:241812404 		rs180177235
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
178_CYS TRP ClinVar
chr2:241812405 		rs1400552764
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
183_ASP ASN VAR_010973 rs180177236
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
183_ASP ASN ClinVar
chr2:241812418 		rs180177236
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
184_SER TER ClinVar
chr2:241812422 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
184_SER LEU 8.3kJPN
chr2:241812422 		rs536205988
- 0.0002 -
186_ALA VAL gnomAD
chr2:241812428 		rs117195882
- 0.0112562 -
186_ALA VAL 8.3kJPN
chr2:241812428 		rs117195882
- 0.0648 -
187_SER PHE VAR_000591 rs180177238
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
187_SER PHE ClinVar
chr2:241812431 		rs180177238
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
187_SER TYR ClinVar
chr2:241812431 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
190_GLY ARG VAR_060556 rs180177239
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
190_GLY ARG ClinVar
chr2:241812439 		rs180177239
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
190_GLY ALA ClinVar
chr2:241812440 		rs2106429472
Likely pathogenic - not provided [MedGen:C3661900]
190_GLY VAL ClinVar
chr2:241812440 		rs2106429472
Likely pathogenic - not provided [MedGen:C3661900]
190_GLY GLU ClinVar
chr2:241812440 		-
Likely pathogenic - not provided [MedGen:C3661900]
190_GLY ARG ClinVar
chr2:241812439 		-
Pathogenic - Primary hyperoxaluria [MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
195_MET ARG VAR_060557 rs180177244
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
195_MET LEU ClinVar
chr2:241812454 		rs180177243
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
195_MET ARG ClinVar
chr2:241812455 		rs180177244
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
195_MET ILE ClinVar
chr2:241812456 		rs2106429490
Likely pathogenic - not provided [MedGen:C3661900]
197_ARG GLN gnomAD
chr2:241812461 		rs34664134
- 0.0112224 -
197_ARG GLN 8.3kJPN
chr2:241812461 		rs34664134
- 0.0649 -
198_GLN PRO ClinVar
chr2:241812464 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
199_GLY SER ClinVar
chr2:241812466 		rs796052062
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
200_ILE VAL ClinVar
chr2:241813397 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
201_ASP GLU VAR_060558 rs180177246
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
201_ASP GLU ClinVar
chr2:241813402 		rs180177246
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
201_ASP VAL ClinVar
chr2:241813401 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
202_ILE ASN VAR_074589 rs536352238
US - Hyperoxaluria primary 1 (HP1) [MIM:259900]
202_ILE ASN ClinVar
chr2:241813404 		rs536352238
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
204_TYR TER ClinVar
chr2:241813411 		rs180177247
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
205_SER PRO VAR_000592 rs121908520
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
205_SER PRO ClinVar
chr2:241813412 		rs121908520
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
205_SER TER ClinVar
chr2:241813413 		rs180177248
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
205_SER LEU ClinVar
chr2:241813413 		rs180177248
Pathogenic - Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
208_GLN TER ClinVar
chr2:241813421 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
209_LYS ASN ClinVar
chr2:241813426 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
210_ALA PRO ClinVar
chr2:241813427 		rs180177250
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
211_LEU ARG ClinVar
chr2:241813431 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
212_ASN SER 8.3kJPN
chr2:241813434 		rs765910470
- 0.0001 -
213_ALA ASP ClinVar
chr2:241813437 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
216_GLY ARG ClinVar
chr2:241813445 		rs180177252
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
218_SER LEU VAR_060559 rs180177253
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
218_SER LEU ClinVar
chr2:241813452 		rs180177253
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
218_SER TER ClinVar
chr2:241813452 		rs180177253
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
218_SER LEU 8.3kJPN
chr2:241813452 		rs180177253
- 0.0001 -
220_ILE PHE ClinVar
chr2:241813457 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
221_SER PRO ClinVar
chr2:241813460 		rs180177254
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
223_SER ARG ClinVar
chr2:241813466 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
225_LYS TER ClinVar
chr2:241813472 		-
Pathogenic - not provided [MedGen:C3661900]
230_MET VAL 8.3kJPN
chr2:241814533 		-
- 0.0001 -
231_TYR TER ClinVar
chr2:241814538 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
233_ARG CYS VAR_008879 rs121908526
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
233_ARG HIS VAR_008880 rs121908527
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
233_ARG LEU VAR_060560 rs121908527
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
233_ARG CYS ClinVar
chr2:241814542 		rs121908526
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
233_ARG HIS ClinVar
chr2:241814543 		rs121908527
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
233_ARG LEU ClinVar
chr2:241814543 		rs121908527
Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
233_ARG CYS 8.3kJPN
chr2:241814542 		rs121908526
- 0.0001 -
233_ARG LEU 8.3kJPN
chr2:241814543 		rs121908527
- 0.0001 -
234_LYS ARG gnomAD
chr2:241814546 		rs202155784
- 0.000107387 -
236_LYS TER ClinVar
chr2:241814551 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
243_ASP HIS VAR_060561 rs180177258
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
243_ASP HIS ClinVar
chr2:241814572 		rs180177258
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
244_ILE THR VAR_008881 rs121908525
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
244_ILE THR ClinVar
chr2:241814576 		rs121908525
Pathogenic - Primary hyperoxaluria, type I|Primary hyperoxaluria|Nephrolithiasis [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416|Human Phenotype Ontology:HP:0000102,Human Phenotype Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525]; Nephrocalcinosis|not provided|AGXT-related condition [Human Phenotype Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709|MedGen:C3661900|]
244_ILE ASN ClinVar
chr2:241814576 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
246_TRP TER ClinVar
chr2:241814583 		rs121908528
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
246_TRP TER ClinVar
chr2:241814582 		rs180177259
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
251_TRP TER ClinVar
chr2:241814597 		rs786204545
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
251_TRP TER ClinVar
chr2:241814598 		rs180177263
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
251_TRP ARG ClinVar
chr2:241814596 		rs762757818
Likely pathogenic - not provided [MedGen:C3661900]
251_TRP ARG 8.3kJPN
chr2:241814596 		rs762757818
- 0.0006 -
251_TRP TER 8.3kJPN
chr2:241814597 		rs786204545
- 0.0006 -
253_CYS ARG VAR_060562 rs180177264
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
253_CYS ARG ClinVar
chr2:241814602 		rs180177264
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
260_TYR CYS ClinVar
chr2:241815354 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
261_HIS GLN ClinVar
chr2:241815358 		rs180177269
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
266_VAL ILE 8.3kJPN
chr2:241815371 		rs142114432
- 0.0005 -
275_SER ARG ClinVar
chr2:241815398 		rs180177272
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
275_SER ILE ClinVar
chr2:241815399 		rs767607960
Likely pathogenic - not provided [MedGen:C3661900]
275_SER ASN ClinVar
chr2:241815399 		rs767607960
Likely pathogenic - not provided [MedGen:C3661900]
279_ILE MET VAR_060563 rs180177277
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
279_ILE THR VAR_060564 rs140992177
LB/B - -
279_ILE THR gnomAD
chr2:241815411 		rs140992177
- 0.00181895 -
280_ALA VAL VAR_060565 rs73106685
LB/B - -
280_ALA VAL gnomAD
chr2:241815414 		rs73106685
- 0.00278707 -
281_GLU TER ClinVar
chr2:241815416 		rs1575711244
Pathogenic - not provided [MedGen:C3661900]
282_GLN TER ClinVar
chr2:241815419 		rs180177279
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
282_GLN HIS ClinVar
chr2:241815421 		rs180177284
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
284_LEU PRO ClinVar
chr2:241816958 		rs180177287
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
285_GLU TER ClinVar
chr2:241816960 		rs180177288
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
287_SER THR VAR_060566 rs180177289
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
288_TRP TER ClinVar
chr2:241816970 		rs2106431706
Likely pathogenic - Nephrotic syndrome [Human Phenotype Ontology:HP:0000100,Human Phenotype Ontology:HP:0000801,Human Phenotype Ontology:HP:0004718,Human Phenotype Ontology:HP:0008638,Human Phenotype Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726]
289_ARG CYS VAR_060567 rs180177290
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
289_ARG CYS gnomAD
chr2:241816972 		rs180177290
- 0.000392383 -
289_ARG HIS gnomAD
chr2:241816973 		rs61729604
- 0.000979611 -
289_ARG CYS 8.3kJPN
chr2:241816972 		rs180177290
- 0.0001 -
289_ARG HIS 8.3kJPN
chr2:241816973 		rs61729604
- 0.0001 -
295_ALA THR VAR_048237 rs13408961
LB/B - -
295_ALA THR gnomAD
chr2:241816990 		rs13408961
- 0.00667213 -
296_ALA GLU 8.3kJPN
chr2:241816994 		-
- 0.0001 -
297_TYR TER ClinVar
chr2:241816998 		rs180177292
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
298_LEU PRO VAR_060569 rs180177293
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
298_LEU PRO ClinVar
chr2:241817000 		rs180177293
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
299_HIS TYR 8.3kJPN
chr2:241817002 		-
- 0.0001 -
303_GLN TER ClinVar
chr2:241817014 		rs180177294
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
308_GLN TER ClinVar
chr2:241817029 		rs180177296
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
312_LYS TER ClinVar
chr2:241817041 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
316_LEU PRO ClinVar
chr2:241817443 		rs796052063
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
319_PRO LEU ClinVar
chr2:241817452 		rs180177299
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
326_VAL ILE VAR_060570 rs115057148
LB/B - -
326_VAL ILE gnomAD
chr2:241817472 		rs115057148
- 0.000921615 -
327_PRO SER 8.3kJPN
chr2:241817475 		-
- 0.0001 -
332_TRP TER ClinVar
chr2:241817492 		rs796052064
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
333_ARG TER ClinVar
chr2:241817493 		rs180177303
Pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
336_VAL ASP VAR_060571 rs180177155
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
336_VAL ASP ClinVar
chr2:241817503 		rs180177155
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
338_TYR TER ClinVar
chr2:241817510 		rs756437332
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
338_TYR TER ClinVar
chr2:241817510 		-
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
340_ILE MET VAR_000593 rs4426527
LB/B - -
340_ILE MET gnomAD
chr2:241817516 		rs4426527
- 0.163971 -
340_ILE THR 8.3kJPN
chr2:241817515 		rs749568989
- 0.0015 -
340_ILE MET 8.3kJPN
chr2:241817516 		rs4426527
- 0.0681 -
341_ASP GLU gnomAD
chr2:241817519 		rs144007007
- 0.000327097 -
344_ASP ASN 8.3kJPN
chr2:241817526 		rs372399525
- 0.0001 -
349_GLY SER ClinVar
chr2:241817541 		rs796052065
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
350_GLY ASP VAR_060572 rs180177156
LP/P - Hyperoxaluria primary 1 (HP1) [MIM:259900]
350_GLY ASP ClinVar
chr2:241817545 		rs180177156
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided|Primary hyperoxaluria [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416]
355_THR MET 8.3kJPN
chr2:241817560 		rs750905647
- 0.0001 -
359_LEU PRO ClinVar
chr2:241818135 		rs180177160
Likely pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
360_ARG GLN ClinVar
chr2:241818138 		rs180177161
Pathogenic/Likely pathogenic - Primary hyperoxaluria, type I|not provided [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900]
360_ARG PRO ClinVar
chr2:241818138 		rs180177161
Likely pathogenic - Nephrocalcinosis [Human Phenotype Ontology:HP:0000121,MONDO:MONDO:0001567,MedGen:C0027709]; Nephrolithiasis [Human Phenotype Ontology:HP:0000102,Human Phenotype Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525]
360_ARG TRP ClinVar
chr2:241818137 		-
Likely pathogenic - not provided [MedGen:C3661900]
367_ASN SER 8.3kJPN
chr2:241818159 		rs1176072053
- 0.0001 -
368_ALA THR ClinVar
chr2:241818161 		rs180177163
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
370_ARG CYS 8.3kJPN
chr2:241818167 		rs372138644
- 0.0001 -
371_GLU LYS gnomAD
chr2:241818170 		rs369664123
- 0.000153966 -
374_ASP HIS ClinVar
chr2:241818179 		-
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
375_ARG CYS 8.3kJPN
chr2:241818182 		rs552474817
- 0.0001 -
375_ARG HIS 8.3kJPN
chr2:241818183 		rs771385956
- 0.0001 -
376_VAL MET 8.3kJPN
chr2:241818185 		rs759836341
- 0.0001 -
377_THR MET 8.3kJPN
chr2:241818189 		rs765649468
- 0.0002 -
381_ARG LYS gnomAD
chr2:241818201 		rs151185188
- 0.000476291 -
382_ALA THR gnomAD
chr2:241818203 		rs534914463
- 0.000100629 -
383_ALA ASP ClinVar
chr2:241818207 		rs796052066
Pathogenic - Primary hyperoxaluria, type I [MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
385_GLN TER ClinVar
chr2:241818212 		-
Pathogenic - not provided [MedGen:C3661900]
387_CYS TER ClinVar
chr2:241818220 		-
Pathogenic - not provided|Primary hyperoxaluria, type I [MedGen:C3661900|MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598]
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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.