PDB ID | 1CXP
|
CHAIN | A |
---|---|---|---|
Protein name | MYELOPEROXIDASE | ||
Uniprot Accession | P05164 | ||
The number of similar proteins | 43 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1CXP (CHAIN: A) | |
1 |
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2 |
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3 |
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4 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
7_TYR | CYS |
VAR_015377
rs78950939 |
LP/P | - | 0.9458 | Myeloperoxidase deficiency (MPOD) [MIM:254600] | |
7_TYR | CYS |
ClinVar chr17:56356914 rs78950939 |
Likely pathogenic | - | 0.9458 | Myeloperoxidase deficiency|not provided [MONDO:MONDO:0009694,MedGen:C0398595,OMIM:254600,Orphanet:2587|MedGen:C3661900] | |
7_TYR | CYS |
gnomAD chr17:56356914 rs78950939 |
- | 0.000458423 | 0.9458 | - | |
35_ALA | PRO |
8.3kJPN chr17:56356735 - |
- | 0.0001 | 0.138 | - | |
36_GLU | TER |
ClinVar chr17:56356732 rs778013714 |
Likely pathogenic | - | - | not provided|Myeloperoxidase deficiency [MedGen:C3661900|MONDO:MONDO:0009694,MedGen:C0398595,OMIM:254600,Orphanet:2587]; Alzheimer disease type 1|Myeloperoxidase deficiency [MONDO:MONDO:0007088,MedGen:C1863052,OMIM:104300|MONDO:MONDO:0009694,MedGen:C0398595,OMIM:254600,Orphanet:2587] | |
45_TYR | HIS |
gnomAD chr17:56356705 rs202217586 |
- | 0.000109161 | 0.1795 | - | |
75_GLN | TER |
ClinVar chr17:56356533 rs754632893 |
Pathogenic/Likely pathogenic | - | - | Myeloperoxidase deficiency|MPO-related condition [MONDO:MONDO:0009694,MedGen:C0398595,OMIM:254600,Orphanet:2587|] | |
82_ARG | LEU |
8.3kJPN chr17:56356511 rs757797973 |
- | 0.0001 | 0.4723 | - | |
85_MET | THR |
VAR_015378
rs56378716 |
LP/P | - | 0.4629 | Myeloperoxidase deficiency (MPOD) [MIM:254600] | |
85_MET | THR |
gnomAD chr17:56356502 rs56378716 |
- | 0.0102374 | 0.4629 | - | |
87_MET | ARG |
8.3kJPN chr17:56356496 rs200819121 |
- | 0.0001 | 0.8836 | - | |
95_HIS | GLN |
8.3kJPN chr17:56356471 rs749102851 |
- | 0.0002 | 0.996 | - | |
104_ALA | THR |
8.3kJPN chr17:56356446 rs1411421218 |
- | 0.0001 | 0.1115 | - |