PDB ID | 1AK8
|
CHAIN | A |
---|---|---|---|
Protein name | CALMODULIN | ||
Uniprot Accession | P62157 | ||
The number of similar proteins | 22 | ||
The number of binding states | 5 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1AK8 (CHAIN: A) | |
1 | Monomeric state |
2 |
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3 |
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4 |
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5 |
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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 | |
---|---|---|---|---|---|---|---|
23_GLY | GLU |
8.3kJPN chr10:5567119 - |
- | 0.0001 | - | - | |
29_THR | PRO |
ClinVar chr14:90867656 rs1057521851 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
29_THR | SER |
8.3kJPN chr10:5567136 - |
- | 0.0001 | - | - | |
31_GLU | GLN |
gnomAD chr10:5567142 rs2231420 |
- | 0.00532811 | - | - | |
31_GLU | GLN |
8.3kJPN chr10:5567142 rs2231420 |
- | 0.0341 | - | - | |
51_MET | VAL |
8.3kJPN chr10:5567202 - |
- | 0.0001 | - | - | |
53_ASN | ILE |
ClinVar chr14:90867729 rs267607276 |
Likely pathogenic | - | - | Catecholaminergic polymorphic ventricular tachycardia 4|Catecholaminergic polymorphic ventricular tachycardia 1 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286] | |
61_GLY | SER |
gnomAD chr10:5567232 rs550418190 |
- | 0.000502304 | - | - | |
66_PRO | SER |
gnomAD chr10:5567247 rs75808734 |
- | 0.000394542 | - | - |