PiSITE

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

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Molecule viewer

Only interaction residues

#binding
partners

	3
	2
	1
	0

Sequence information

GHHHHHHATK

AVCVLKGDGP

VQGIINFEQK

ESNGPVKVWG

SIKGLTEGLH

GFHVHEFGDN

TAGCTSAGPH

FNPLSRKHGG

PKDEERHVGD

LGNVTADKDG

100

101

VADVSIEDSV

ISLSGDHCII

GRTLVVHEKA

150

Variants

Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
3_LYS	GLU	ClinVar chr21:33032092 -	Pathogenic	-	0.3228	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
4_ALA	THR	VAR_007130 rs121912444	LP/P	-	0.8609	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
4_ALA	VAL	VAR_007131 rs121912442	LP/P	-	0.8401	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
4_ALA	SER	VAR_013518 rs121912444	LP/P	-	0.554	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
4_ALA	VAL	ClinVar chr21:33032096 rs121912442	Pathogenic	-	0.8401	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	-	0.8609	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	-	0.554	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
6_CYS	PHE	VAR_008717 rs121912448	LP/P	-	0.9405	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
6_CYS	PHE	ClinVar chr21:33032102 rs121912448	Pathogenic	-	0.9405	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
6_CYS	SER	ClinVar chr21:33032101 rs1312702973	Pathogenic	-	0.6933	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
6_CYS	GLY	ClinVar chr21:33032101 rs1312702973	Likely pathogenic	-	0.6404	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
7_VAL	GLU	VAR_007132 rs1568807330	LP/P	-	0.7102	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
8_LEU	GLN	VAR_013519 rs1568807342	LP/P	-	0.9431	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
8_LEU	VAL	VAR_013520 rs1568807333	LP/P	-	0.3123	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
11_ASP	TYR	ClinVar chr21:33032116 -	Likely pathogenic	-	0.2305	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
12_GLY	ARG	VAR_013521 rs121912456	LP/P	-	0.3962	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
12_GLY	ARG	ClinVar chr21:33032119 rs121912456	Likely pathogenic	-	0.3962	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
14_VAL	MET	VAR_007133 rs1568807400	LP/P	-	0.7232	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
14_VAL	GLY	VAR_013522 rs1202989817	LP/P	-	0.5562	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
14_VAL	MET	ClinVar chr21:33032125 rs1568807400	Pathogenic/Likely pathogenic	-	0.7232	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
14_VAL	LEU	ClinVar chr21:33032125 rs1568807400	Likely pathogenic	-	0.6331	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
14_VAL	GLY	ClinVar chr21:33032126 rs1202989817	Likely pathogenic	-	0.5562	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
14_VAL	ALA	8.3kJPN chr21:33032126 rs1202989817	-	0.0001	0.4522	-
16_GLY	SER	VAR_007134 rs121912453	LP/P	-	0.9401	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
16_GLY	SER	ClinVar chr21:33032131 rs121912453	Pathogenic	-	0.9401	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
16_GLY	ALA	ClinVar chr21:33032132 rs1200906022	Pathogenic/Likely pathogenic	-	0.8491	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	-	0.9717	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
20_PHE	CYS	VAR_045876 rs1555836169	LP/P	-	0.9208	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
20_PHE	LEU	ClinVar chr21:33032145 rs1555836170	Likely pathogenic	-	0.9179	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
20_PHE	CYS	ClinVar chr21:33032144 rs1555836169	Pathogenic	-	0.9208	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
21_GLU	LYS	VAR_007135 rs121912450	LP/P	-	0.3395	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
21_GLU	GLY	VAR_013523 rs1568807435	LP/P	-	0.4389	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
21_GLU	LYS	ClinVar chr21:33032146 rs121912450	Pathogenic	-	0.3395	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
22_GLN	LEU	VAR_045877 rs1169198442	LP/P	-	0.7723	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
22_GLN	LEU	ClinVar chr21:33032150 rs1169198442	Pathogenic/Likely pathogenic	-	0.7723	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
22_GLN	HIS	ClinVar chr21:33032151 rs1424217272	Likely pathogenic	-	0.9414	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	-	0.8998	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
37_GLY	ARG	VAR_007136 rs121912431	LP/P	-	0.8643	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
37_GLY	ARG	ClinVar chr21:33036142 rs121912431	Pathogenic	-	0.8643	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	-	0.8643	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
38_LEU	VAL	VAR_007137 rs121912432	LP/P	-	0.5391	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
38_LEU	ARG	VAR_013524 rs1555836520	LP/P	-	0.9239	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
38_LEU	VAL	ClinVar chr21:33036145 rs121912432	Pathogenic/Likely pathogenic	-	0.5391	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	-	0.9525	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
41_GLY	SER	VAR_007138 rs121912433	LP/P	-	0.5177	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
41_GLY	ASP	VAR_007139 rs121912434	LP/P	-	0.7483	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
41_GLY	SER	ClinVar chr21:33036154 rs121912433	Pathogenic	-	0.5177	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	-	0.7483	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
43_HIS	ARG	VAR_007140 rs121912435	LP/P	-	0.7571	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
43_HIS	ARG	ClinVar chr21:33036161 rs121912435	Pathogenic	-	0.7571	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	-	0.7802	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
45_PHE	CYS	ClinVar chr21:33036167 rs121912457	Pathogenic	-	0.7802	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
46_HIS	ARG	VAR_007141 rs121912443	LP/P	-	0.9825	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
46_HIS	ARG	ClinVar chr21:33036170 rs121912443	Pathogenic	-	0.9825	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	-	0.9134	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
48_HIS	GLN	VAR_007142 rs1568809175	LP/P	-	0.9906	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
48_HIS	ARG	VAR_045878 rs1568809172	LP/P	-	0.9817	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
48_HIS	ARG	ClinVar chr21:33036176 rs1568809172	Likely pathogenic	-	0.9817	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
49_GLU	LYS	VAR_013526 rs1568809178	LP/P	-	0.4001	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
54_THR	ARG	VAR_045879 rs986277034	LP/P	-	0.2824	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
56_GLY	ASP	8.3kJPN chr21:33038762 -	-	0.0001	0.6601	-
65_ASN	SER	VAR_013527 rs1568810275	LP/P	-	0.3044	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
65_ASN	SER	ClinVar chr21:33038789 -	Pathogenic/Likely pathogenic	-	0.3044	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
67_LEU	ARG	VAR_013528 rs1568810289	LP/P	-	0.1458	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
67_LEU	PRO	VAR_065560 rs1568810289	LP/P	-	0.4766	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
68_SER	PRO	ClinVar chr21:33038797 rs2049594204	Likely pathogenic	-	0.4929	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
71_HIS	TYR	ClinVar chr21:33038806 rs2049594311	Likely pathogenic	-	0.9779	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
72_GLY	SER	VAR_008718 rs121912455	LP/P	-	0.4648	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
72_GLY	SER	ClinVar chr21:33038809 rs121912455	Likely pathogenic	-	0.4648	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
76_ASP	TYR	VAR_013529 rs1601157750	LP/P	-	0.5255	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
76_ASP	TYR	ClinVar chr21:33038821 rs1601157750	Pathogenic/Likely pathogenic	-	0.5255	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	-	0.6293	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
80_HIS	ARG	VAR_016874 -	LP/P	-	0.9719	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
80_HIS	ARG	ClinVar chr21:33039573 rs121912458	Pathogenic	-	0.9719	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
80_HIS	TYR	ClinVar chr21:33039572 -	Likely pathogenic	-	0.9506	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
84_LEU	VAL	VAR_007143 rs121912452	LP/P	-	0.6279	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
84_LEU	PHE	VAR_013530 rs1315541036	LP/P	-	0.6329	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
84_LEU	VAL	ClinVar chr21:33039584 rs121912452	Pathogenic	-	0.6279	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
84_LEU	PHE	ClinVar chr21:33039586 rs1315541036	Pathogenic	-	0.6329	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
85_GLY	ARG	VAR_007144 rs121912436	LP/P	-	0.9836	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
85_GLY	ARG	ClinVar chr21:33039587 rs121912436	Pathogenic	-	0.9836	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
85_GLY	SER	ClinVar chr21:33039587 rs121912436	Pathogenic/Likely pathogenic	-	0.9176	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	-	0.6158	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
86_ASN	SER	ClinVar chr21:33039591 rs11556620	Pathogenic	-	0.6158	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
86_ASN	SER	8.3kJPN chr21:33039591 rs11556620	-	0.0001	0.6158	-
87_VAL	ALA	VAR_045880 rs1339283341	LP/P	-	0.8249	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
87_VAL	ALA	ClinVar chr21:33039594 rs1339283341	Likely pathogenic	-	0.8249	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	-	0.6236	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
89_ALA	VAL	VAR_013532 rs1280042397	LP/P	-	0.4365	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
89_ALA	THR	VAR_045881 rs1568810660	LP/P	-	0.3609	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
89_ALA	VAL	ClinVar chr21:33039600 rs1280042397	Pathogenic/Likely pathogenic	-	0.4365	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	-	0.1494	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
90_ASP	VAL	VAR_013533 rs80265967	LP/P	-	0.2951	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
90_ASP	VAL	ClinVar chr21:33039603 -	Pathogenic	-	0.2951	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
90_ASP	ALA	gnomAD chr21:33039603 rs80265967	-	0.00143157	0.1494	-
93_GLY	ALA	VAR_007146 rs121912438	LP/P	-	0.5141	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY	CYS	VAR_007147 rs121912437	LP/P	-	0.5515	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY	ASP	VAR_007148 rs121912438	LP/P	-	0.7412	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY	ARG	VAR_007149 rs121912437	LP/P	-	0.5491	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY	VAL	VAR_008719 rs121912438	LP/P	-	0.8612	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
93_GLY	CYS	ClinVar chr21:33039611 rs121912437	Pathogenic	-	0.5515	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
93_GLY	ALA	ClinVar chr21:33039612 rs121912438	Pathogenic	-	0.5141	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
93_GLY	ARG	ClinVar chr21:33039611 rs121912437	Pathogenic/Likely pathogenic	-	0.5491	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	-	0.7412	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
93_GLY	SER	ClinVar chr21:33039611 -	Pathogenic	-	0.3349	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	-	0.3865	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
95_ALA	THR	ClinVar chr21:33039617 -	Likely pathogenic	-	0.3017	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
96_ASP	VAL	ClinVar chr21:33039621 rs1555836803	Likely pathogenic	-	0.0903	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
97_VAL	MET	VAR_045882 rs1555836806	LP/P	-	0.5027	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
100_GLU	GLY	VAR_007150 rs121912439	LP/P	-	0.2546	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
100_GLU	LYS	VAR_013534 rs76731700	LP/P	-	0.1514	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
100_GLU	GLY	ClinVar chr21:33039633 rs121912439	Pathogenic	-	0.2546	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	-	0.1514	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	-	0.9264	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
101_ASP	ASN	VAR_007152 rs1568810715	LP/P	-	0.9052	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
101_ASP	HIS	ClinVar chr21:33039635 rs1568810715	Pathogenic	-	0.9863	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
101_ASP	ASN	ClinVar chr21:33039635 -	Pathogenic	-	0.9052	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
104_ILE	PHE	VAR_008720 rs121912445	LP/P	-	0.6606	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
104_ILE	PHE	ClinVar chr21:33039644 rs121912445	Likely pathogenic	-	0.6606	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	-	0.2285	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
105_SER	LEU	ClinVar chr21:33039648 rs1378590183	Pathogenic	-	0.2285	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	-	0.4364	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
106_LEU	VAL	ClinVar chr21:33039650 rs121912440	Pathogenic	-	0.4364	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	-	0.6607	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
108_GLY	VAL	VAR_013536 rs1359299834	LP/P	-	0.7884	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
110_HIS	TYR	8.3kJPN chr21:33039662 -	-	0.0001	0.0855	-
111_CYS	TYR	VAR_077327 rs1601158483	LP/P	-	0.5441	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
111_CYS	TYR	ClinVar chr21:33039666 -	Pathogenic	-	0.5441	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
112_ILE	THR	VAR_007154 rs74315452	LP/P	-	0.9547	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
112_ILE	MET	VAR_013537 rs1299542356	LP/P	-	0.6669	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
112_ILE	THR	ClinVar chr21:33039669 rs74315452	Pathogenic	-	0.9547	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
113_ILE	THR	VAR_007155 rs121912441	LP/P	-	0.2771	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
113_ILE	THR	ClinVar chr21:33039672 rs121912441	Pathogenic/Likely pathogenic	-	0.2771	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	-	0.2527	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
114_GLY	ALA	VAR_013538 rs1568810789	LP/P	-	0.9169	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
114_GLY	SER	ClinVar chr21:33039674 rs2049604095	Likely pathogenic	-	0.8683	not provided [MedGen:C3661900]
114_GLY	ALA	ClinVar chr21:33039675 -	Pathogenic	-	0.9169	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
115_ARG	GLY	VAR_007156 rs1301635320	LP/P	-	0.9767	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
115_ARG	GLY	ClinVar chr21:33039677 rs1301635320	Pathogenic/Likely pathogenic	-	0.9767	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	-	0.8837	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
119_VAL	LEU	ClinVar chr21:33040784 rs1457889952	Likely pathogenic	-	0.4674	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	-	0.9927	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
124_ASP	GLY	VAR_045884 rs1568811366	LP/P	-	0.9812	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
124_ASP	VAL	ClinVar chr21:33040800 rs1568811366	Pathogenic/Likely pathogenic	-	0.9927	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	-	0.9812	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	-	0.9881	Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]
125_ASP	ASN	ClinVar chr21:33040802 rs1568811372	Likely pathogenic	-	0.8629	Amyotrophic lateral sclerosis type 1 [MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803]
125_ASP	ALA	ClinVar chr21:33040803 rs1164911383	Likely pathogenic	-	0.9872	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

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