PDB ID | 1Z8J
|
CHAIN | A |
---|---|---|---|
Protein name | Thrombin light chain | ||
Uniprot Accession | P00734 | ||
The number of similar proteins | 351 | ||
The number of binding states | 7 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1Z8J (CHAIN: A) | |
1 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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7 |
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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 | |
---|---|---|---|---|---|---|---|
1D_GLY | ALA |
ClinVar chr11:46748168 rs2134532862 |
Likely pathogenic | - | 0.5212 | Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325] | |
1E_SER | LEU |
8.3kJPN chr11:46748165 rs200812621 |
- | 0.0004 | 0.0591 | - | |
4_ARG | TER |
ClinVar chr11:46748272 - |
Pathogenic | - | - | Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325] | |
8_GLU | LYS |
ClinVar chr11:46748284 rs121918483 |
Pathogenic | - | 0.8559 | Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325] | |
14C_GLU | LYS |
ClinVar chr11:46748311 rs121918484 |
Pathogenic | - | 0.692 | Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325] | |
14H_GLU | GLY |
ClinVar chr11:46748327 rs2134533215 |
Likely pathogenic | - | 0.1036 | Congenital prothrombin deficiency [MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325] |