PDB ID | 4CLN
|
CHAIN | A |
---|---|---|---|
Protein name | CALMODULIN | ||
Uniprot Accession | P62152 | ||
The number of similar proteins | 201 | ||
The number of binding states | 36 | ||
The number of binding partners | 26 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
4CLN (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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6 |
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7 |
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8 |
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9 |
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10 |
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11 |
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12 |
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13 |
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14 |
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15 |
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16 |
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17 |
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18 |
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19 |
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20 |
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21 |
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22 |
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23 |
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24 |
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25 |
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26 |
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27 |
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28 |
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29 |
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30 |
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31 |
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32 |
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33 |
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34 |
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35 |
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36 |
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Only interaction residues |
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
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
|
Pathogenic/Likely pathogenic | - | Catecholaminergic polymorphic ventricular tachycardia type 1 [MedGen:C4053736,OMIM:604772]; Ventricular tachycardia, catecholaminergic polymorphic, 4 [MedGen:C3554047,OMIM:614916] | |
61_GLY | SER |
gnomAD chr10:5567232 |
rs550418190
|
- | 0.000502304 | - | |
66_PRO | SER |
gnomAD chr10:5567247 |
rs75808734
|
- | 0.000394542 | - | |
89_PHE | LEU |
ClinVar chr14:90870295 |
rs730882253
|
Pathogenic | - | Long QT syndrome 14 [MedGen:C4015671,OMIM:616247] | |
90_ARG | HIS |
8.3kJPN chr10:5567320 |
rs776439000
|
- | 0.0019 | - | |
93_ASP | ALA |
ClinVar chr19:47111841 |
rs1060502608
|
Pathogenic | - | Long QT syndrome 1 [MedGen:C4551647,OMIM:192500,SNOMED CT:20852007] | |
95_ASP | VAL |
ClinVar chr2:47388996 |
rs730882254
|
Pathogenic | - | Long QT syndrome 15 [MedGen:C4015695,OMIM:616249] | |
96_GLY | SER |
8.3kJPN chr10:5567337 |
rs190000968
|
- | 0.0002 | - | |
97_ASN | SER |
ClinVar chr14:90870730 |
rs267607277
|
Pathogenic/Likely pathogenic | - | Catecholaminergic polymorphic ventricular tachycardia [MedGen:C1631597,Orphanet:ORPHA3286]; Catecholaminergic polymorphic ventricular tachycardia type 1 [MedGen:C4053736,OMIM:604772]; Long QT syndrome 14 [MedGen:C4015671,OMIM:616247]; Ventricular tachycardia, catecholaminergic polymorphic, 4 [MedGen:C3554047,OMIM:614916]; Ventricular tachycardia, catecholaminergic polymorphic, 4 [MedGen:C3554047,OMIM:614916] | |
97_ASN | SER |
ClinVar chr2:47388990 |
rs398124647
|
Pathogenic/Likely pathogenic | - | Long QT syndrome 1 [MedGen:C4551647,OMIM:192500,SNOMED CT:20852007]; Long QT syndrome 15 [MedGen:C4015695,OMIM:616249] | |
97_ASN | ILE |
ClinVar chr2:47388990 |
rs398124647
|
Pathogenic/Likely pathogenic | - | Long QT syndrome 1 [MedGen:C4551647,OMIM:192500,SNOMED CT:20852007]; Long QT syndrome 15 [MedGen:C4015695,OMIM:616249] | |
104_GLU | LYS |
ClinVar chr14:90870750 |
rs1057523130
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
120_GLU | LYS |
8.3kJPN chr10:5567409 |
-
|
- | 0.0001 | - | |
126_ARG | TRP |
gnomAD chr10:5567427 |
rs754327442
|
- | 0.000119868 | - | |
128_ALA | VAL |
8.3kJPN chr10:5567434 |
rs752809700
|
- | 0.0002 | - | |
129_ASP | GLY |
ClinVar chr14:90870826 |
rs730882252
|
Pathogenic | - | Long QT syndrome 14 [MedGen:C4015671,OMIM:616247] | |
129_ASP | ASN |
8.3kJPN chr10:5567436 |
rs777995357
|
- | 0.0002 | - | |
129_ASP | GLU |
8.3kJPN chr10:5567438 |
rs751753306
|
- | 0.0002 | - | |
130_THR | ARG |
8.3kJPN chr10:5567440 |
-
|
- | 0.0001 | - | |
131_ASP | GLU |
ClinVar chr2:47388887 |
rs398124648
|
Pathogenic/Likely pathogenic | - | Long QT syndrome 1 [MedGen:C4551647,OMIM:192500,SNOMED CT:20852007]; Long QT syndrome 15 [MedGen:C4015695,OMIM:616249] | |
131_ASP | GLY |
ClinVar chr19:47112212 |
rs1057523474
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
131_ASP | GLU |
ClinVar chr19:47112213 |
rs1064796271
|
Pathogenic | - | not provided [MedGen:CN517202] | |
132_GLY | GLU |
ClinVar chr14:90870835 |
rs1555366045
|
Likely pathogenic | - | Long QT syndrome 14 [MedGen:C4015671,OMIM:616247]; Ventricular tachycardia, catecholaminergic polymorphic, 4 [MedGen:C3554047,OMIM:614916] | |
133_ASP | HIS |
ClinVar chr2:47388883 |
rs398124650
|
Pathogenic/Likely pathogenic | - | Long QT syndrome 1 [MedGen:C4551647,OMIM:192500,SNOMED CT:20852007]; Long QT syndrome 15 [MedGen:C4015695,OMIM:616249] | |
135_GLN | PRO |
ClinVar chr2:47388876 |
rs398124649
|
Pathogenic/Likely pathogenic | - | Long QT syndrome 1 [MedGen:C4551647,OMIM:192500,SNOMED CT:20852007]; Long QT syndrome 15 [MedGen:C4015695,OMIM:616249] | |
137_ASN | LYS |
ClinVar chr2:47388869 |
rs1553431702
|
Pathogenic | - | Long QT syndrome 15 [MedGen:C4015695,OMIM:616249] | |
139_GLU | VAL |
ClinVar chr14:90870856 |
rs1064793078
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
140_GLU | GLY |
ClinVar chr19:47112382 |
rs1555814427
|
Likely pathogenic | - | Long QT syndrome 1 [MedGen:C4551647,OMIM:192500,SNOMED CT:20852007] | |
141_PHE | LEU |
ClinVar chr14:90871037 |
rs199744595
|
Pathogenic | - | Long QT syndrome 14 [MedGen:C4015671,OMIM:616247] | |
141_PHE | LEU |
ClinVar chr14:90871035 |
rs1085307479
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
144_MET | ARG |
ClinVar chr2:47387931 |
-
|
Likely pathogenic | - | Long QT syndrome 1 [MedGen:C4551647,OMIM:192500,SNOMED CT:20852007] | |
144_VAL | MET |
gnomAD chr10:5567481 |
rs530831313
|
- | 0.000136752 | - |