PDB ID 2MP3     CHAIN A
Protein name Superoxide dismutase [Cu-Zn]
Uniprot Accession P00441
The number of similar proteins 204
The number of binding states 5
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2MP3 (CHAIN: A)
1 Monomeric state
2 P00441  
3 7NXX  
4 P00441  
5 P40202  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   GHHHHHHATK   AVCVLKGDGP   VQGIINFEQK   ESNGPVKVWG   SIKGLTEGLH   50
51   GFHVHEFGDN   TAGCTSAGPH   FNPLSRKHGG   PKDEERHVGD   LGNVTADKDG   100
101   VADVSIEDSV   ISLSGDHCII   GRTLVVHEKA   DD     150

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
3_LYS GLU ClinVar
chr21:33032092 		-
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
4_ALA THR VAR_007130 rs121912444
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
4_ALA VAL VAR_007131 rs121912442
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
4_ALA SER VAR_013518 rs121912444
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
4_ALA VAL ClinVar
chr21:33032096 		rs121912442
Pathogenic - Amyotrophic lateral sclerosis type 1|not provided|SOD1-related condition [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900|]
4_ALA THR ClinVar
chr21:33032095 		rs121912444
Pathogenic - Amyotrophic lateral sclerosis type 1|not provided [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900]
4_ALA SER ClinVar
chr21:33032095 		rs121912444
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
6_CYS PHE VAR_008717 rs121912448
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
6_CYS PHE ClinVar
chr21:33032102 		rs121912448
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
6_CYS SER ClinVar
chr21:33032101 		rs1312702973
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
6_CYS GLY ClinVar
chr21:33032101 		rs1312702973
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
7_VAL GLU VAR_007132 rs1568807330
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
8_LEU GLN VAR_013519 rs1568807342
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
8_LEU VAL VAR_013520 rs1568807333
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
11_ASP TYR ClinVar
chr21:33032116 		-
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
12_GLY ARG VAR_013521 rs121912456
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
12_GLY ARG ClinVar
chr21:33032119 		rs121912456
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
14_VAL MET VAR_007133 rs1568807400
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
14_VAL GLY VAR_013522 rs1202989817
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
14_VAL MET ClinVar
chr21:33032125 		rs1568807400
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
14_VAL LEU ClinVar
chr21:33032125 		rs1568807400
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
14_VAL GLY ClinVar
chr21:33032126 		rs1202989817
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
14_VAL ALA 8.3kJPN
chr21:33032126 		rs1202989817
- 0.0001 -
16_GLY SER VAR_007134 rs121912453
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
16_GLY SER ClinVar
chr21:33032131 		rs121912453
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
16_GLY ALA ClinVar
chr21:33032132 		rs1200906022
Pathogenic/Likely pathogenic - not provided|Amyotrophic lateral sclerosis type 1 [MedGen:C3661900|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
16_GLY CYS ClinVar
chr21:33032131 		rs121912453
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
20_PHE CYS VAR_045876 rs1555836169
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
20_PHE LEU ClinVar
chr21:33032145 		rs1555836170
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
20_PHE CYS ClinVar
chr21:33032144 		rs1555836169
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
21_GLU LYS VAR_007135 rs121912450
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
21_GLU GLY VAR_013523 rs1568807435
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
21_GLU LYS ClinVar
chr21:33032146 		rs121912450
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
22_GLN LEU VAR_045877 rs1169198442
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
22_GLN LEU ClinVar
chr21:33032150 		rs1169198442
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
22_GLN HIS ClinVar
chr21:33032151 		rs1424217272
Likely pathogenic - Amyotrophic lateral sclerosis type 1|SOD1-related condition [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|]
22_GLN PRO ClinVar
chr21:33032150 		-
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
37_GLY ARG VAR_007136 rs121912431
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
37_GLY ARG ClinVar
chr21:33036142 		rs121912431
Pathogenic - Amyotrophic lateral sclerosis type 1|Motor neuron disease|not provided [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503|MedGen:C3661900]
37_GLY ARG ClinVar
chr21:33036142 		rs121912431
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
38_LEU VAL VAR_007137 rs121912432
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
38_LEU ARG VAR_013524 rs1555836520
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
38_LEU VAL ClinVar
chr21:33036145 		rs121912432
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1|not provided [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900]
38_LEU GLN ClinVar
chr21:33036146 		-
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
41_GLY SER VAR_007138 rs121912433
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
41_GLY ASP VAR_007139 rs121912434
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
41_GLY SER ClinVar
chr21:33036154 		rs121912433
Pathogenic - Amyotrophic lateral sclerosis type 1|Spastic tetraplegia and axial hypotonia, progressive [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MONDO:MONDO:0032828,MedGen:C5231422,OMIM:618598]; Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
41_GLY ASP ClinVar
chr21:33036155 		rs121912434
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
43_HIS ARG VAR_007140 rs121912435
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
43_HIS ARG ClinVar
chr21:33036161 		rs121912435
Pathogenic - Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis type 10|SOD1-related condition [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900|MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069,Orphanet:275872,Orphanet:803|]
45_PHE CYS VAR_013525 rs121912457
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
45_PHE CYS ClinVar
chr21:33036167 		rs121912457
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
46_HIS ARG VAR_007141 rs121912443
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
46_HIS ARG ClinVar
chr21:33036170 		rs121912443
Pathogenic - Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803]
47_VAL ALA ClinVar
chr21:33036173 		rs1568809169
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
48_HIS GLN VAR_007142 rs1568809175
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
48_HIS ARG VAR_045878 rs1568809172
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
48_HIS ARG ClinVar
chr21:33036176 		rs1568809172
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
49_GLU LYS VAR_013526 rs1568809178
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
54_THR ARG VAR_045879 rs986277034
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
56_GLY ASP 8.3kJPN
chr21:33038762 		-
- 0.0001 -
65_ASN SER VAR_013527 rs1568810275
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
65_ASN SER ClinVar
chr21:33038789 		-
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
67_LEU ARG VAR_013528 rs1568810289
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
67_LEU PRO VAR_065560 rs1568810289
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
68_SER PRO ClinVar
chr21:33038797 		rs2049594204
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
71_HIS TYR ClinVar
chr21:33038806 		rs2049594311
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
72_GLY SER VAR_008718 rs121912455
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
72_GLY SER ClinVar
chr21:33038809 		rs121912455
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
76_ASP TYR VAR_013529 rs1601157750
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
76_ASP TYR ClinVar
chr21:33038821 		rs1601157750
Pathogenic/Likely pathogenic - not provided|Amyotrophic lateral sclerosis type 1 [MedGen:C3661900|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
76_ASP VAL ClinVar
chr21:33038822 		rs1568810316
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
80_HIS ARG VAR_016874 -
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
80_HIS ARG ClinVar
chr21:33039573 		rs121912458
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
80_HIS TYR ClinVar
chr21:33039572 		-
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
84_LEU VAL VAR_007143 rs121912452
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
84_LEU PHE VAR_013530 rs1315541036
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
84_LEU VAL ClinVar
chr21:33039584 		rs121912452
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
84_LEU PHE ClinVar
chr21:33039586 		rs1315541036
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
85_GLY ARG VAR_007144 rs121912436
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
85_GLY ARG ClinVar
chr21:33039587 		rs121912436
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
85_GLY SER ClinVar
chr21:33039587 		rs121912436
Pathogenic/Likely pathogenic - Spastic tetraplegia and axial hypotonia, progressive|Amyotrophic lateral sclerosis type 1|SOD1-related condition [MONDO:MONDO:0032828,MedGen:C5231422,OMIM:618598|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|]
86_ASN SER VAR_013531 rs11556620
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
86_ASN SER ClinVar
chr21:33039591 		rs11556620
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
86_ASN SER 8.3kJPN
chr21:33039591 		rs11556620
- 0.0001 -
87_VAL ALA VAR_045880 rs1339283341
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
87_VAL ALA ClinVar
chr21:33039594 		rs1339283341
Likely pathogenic - Amyotrophic lateral sclerosis type 1|not provided [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900]
87_VAL MET ClinVar
chr21:33039593 		rs1568810641
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
89_ALA VAL VAR_013532 rs1280042397
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
89_ALA THR VAR_045881 rs1568810660
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
89_ALA VAL ClinVar
chr21:33039600 		rs1280042397
Pathogenic/Likely pathogenic - not provided|Amyotrophic lateral sclerosis type 1 [MedGen:C3661900|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
90_ASP ALA VAR_007145 rs80265967
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
90_ASP VAL VAR_013533 rs80265967
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
90_ASP VAL ClinVar
chr21:33039603 		-
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
90_ASP ALA gnomAD
chr21:33039603 		rs80265967
- 0.00143157 -
93_GLY ALA VAR_007146 rs121912438
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY CYS VAR_007147 rs121912437
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY ASP VAR_007148 rs121912438
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY ARG VAR_007149 rs121912437
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY VAL VAR_008719 rs121912438
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY CYS ClinVar
chr21:33039611 		rs121912437
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
93_GLY ALA ClinVar
chr21:33039612 		rs121912438
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
93_GLY ARG ClinVar
chr21:33039611 		rs121912437
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1|Motor neuron disease [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503]
93_GLY ASP ClinVar
chr21:33039612 		rs121912438
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
93_GLY SER ClinVar
chr21:33039611 		-
Pathogenic - SOD1-related condition|Amyotrophic lateral sclerosis type 1 [|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
95_ALA GLY VAR_065194 rs1568810690
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
95_ALA THR ClinVar
chr21:33039617 		-
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
96_ASP VAL ClinVar
chr21:33039621 		rs1555836803
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
97_VAL MET VAR_045882 rs1555836806
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
100_GLU GLY VAR_007150 rs121912439
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
100_GLU LYS VAR_013534 rs76731700
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
100_GLU GLY ClinVar
chr21:33039633 		rs121912439
Pathogenic - Amyotrophic lateral sclerosis type 1|Motor neuron disease|not provided [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503|MedGen:C3661900]
100_GLU LYS ClinVar
chr21:33039632 		rs76731700
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803]
101_ASP GLY VAR_007151 rs1568810721
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
101_ASP ASN VAR_007152 rs1568810715
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
101_ASP HIS ClinVar
chr21:33039635 		rs1568810715
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
101_ASP ASN ClinVar
chr21:33039635 		-
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
104_ILE PHE VAR_008720 rs121912445
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
104_ILE PHE ClinVar
chr21:33039644 		rs121912445
Likely pathogenic - Amyotrophic lateral sclerosis 1, autosomal recessive|Abnormal central motor function [MedGen:C5686324|Human Phenotype Ontology:HP:0011442,MedGen:C4023354]
105_SER LEU VAR_013535 rs1378590183
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
105_SER LEU ClinVar
chr21:33039648 		rs1378590183
Pathogenic - Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis type 1 [Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
106_LEU VAL VAR_007153 rs121912440
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
106_LEU VAL ClinVar
chr21:33039650 		rs121912440
Pathogenic - Amyotrophic lateral sclerosis type 1|SOD1-related condition [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|]
106_LEU PHE ClinVar
chr21:33039650 		rs121912440
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
108_GLY VAL VAR_013536 rs1359299834
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
110_HIS TYR 8.3kJPN
chr21:33039662 		-
- 0.0001 -
111_CYS TYR VAR_077327 rs1601158483
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
111_CYS TYR ClinVar
chr21:33039666 		-
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
112_ILE THR VAR_007154 rs74315452
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
112_ILE MET VAR_013537 rs1299542356
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
112_ILE THR ClinVar
chr21:33039669 		rs74315452
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
113_ILE THR VAR_007155 rs121912441
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
113_ILE THR ClinVar
chr21:33039672 		rs121912441
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1|not provided|Motor neuron disease|SOD1-related condition [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900|MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503|]
113_ILE MET ClinVar
chr21:33039673 		-
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
114_GLY ALA VAR_013538 rs1568810789
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
114_GLY SER ClinVar
chr21:33039674 		rs2049604095
Likely pathogenic - not provided [MedGen:C3661900]
114_GLY ALA ClinVar
chr21:33039675 		-
Pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
115_ARG GLY VAR_007156 rs1301635320
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
115_ARG GLY ClinVar
chr21:33039677 		rs1301635320
Pathogenic/Likely pathogenic - not provided|Amyotrophic lateral sclerosis type 1 [MedGen:C3661900|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
118_VAL LEU VAR_045883 rs1235629842
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
119_VAL LEU ClinVar
chr21:33040784 		rs1457889952
Likely pathogenic - Amyotrophic lateral sclerosis type 1|See cases|SOD1-related condition [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803||]
124_ASP VAL VAR_008722 rs1568811366
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
124_ASP GLY VAR_045884 rs1568811366
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
124_ASP VAL ClinVar
chr21:33040800 		rs1568811366
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis type 1|not provided [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:C3661900]
124_ASP GLY ClinVar
chr21:33040800 		rs1568811366
Pathogenic/Likely pathogenic - not provided|Amyotrophic lateral sclerosis type 1 [MedGen:C3661900|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
125_ASP HIS VAR_007157 rs1568811372
LP/P - Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
125_ASP ASN ClinVar
chr21:33040802 		rs1568811372
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
125_ASP ALA ClinVar
chr21:33040803 		rs1164911383
Likely pathogenic - Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
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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.