PDB ID | 1APM
|
CHAIN | E |
---|---|---|---|
Protein name | cAMP-DEPENDENT PROTEIN KINASE | ||
Uniprot Accession | P05132 | ||
The number of similar proteins | 345 | ||
The number of binding states | 7 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1APM (CHAIN: E) | |
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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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
10_GLU | LYS |
8.3kJPN chr9:71628978 rs1286264874 |
- | 0.0005 | - | - | |
23_LYS | GLU |
8.3kJPN chr19:14218198 rs1047760101 |
- | 0.0001 | - | - | |
41_ASP | ASN |
8.3kJPN chr9:71628885 - |
- | 0.0001 | - | - | |
43_PHE | LEU |
8.3kJPN chr9:71628877 - |
- | 0.0001 | - | - | |
45_ARG | GLN |
gnomAD chr19:14217672 rs56085217 |
- | 0.00198091 | - | - | |
45_ARG | GLN |
8.3kJPN chr19:14217672 rs56085217 |
- | 0.0001 | - | - | |
52_GLY | ALA |
8.3kJPN chr9:71628851 rs200902927 |
- | 0.0001 | - | - | |
53_SER | LEU |
ClinVar chr1:84647935 rs1663748771 |
Pathogenic | - | - | Cardioacrofacial dysplasia 2 [MONDO:MONDO:0030877,MedGen:C5436886,OMIM:619143] | |
62_HIS | ARG |
8.3kJPN chr1:84647962 - |
- | 0.0001 | - | - | |
65_THR | ILE |
8.3kJPN chr9:71628812 rs1355972241 |
- | 0.0002 | - | - | |
67_GLN | HIS |
8.3kJPN chr1:84647978 rs745646679 |
- | 0.0005 | - | - | |
73_ILE | MET |
ClinVar chr9:71628787 rs724159972 |
Pathogenic | - | - | Platelet-type bleeding disorder 19 [MONDO:MONDO:0014518,MedGen:C4015405,OMIM:616176,Orphanet:438207] | |
79_VAL | ALA |
gnomAD chr9:71628770 rs148063597 |
- | 0.000342003 | - | - | |
87_HIS | ARG |
ClinVar chr1:84649745 rs768056300 |
Pathogenic | - | - | Cardioacrofacial dysplasia 2 [MONDO:MONDO:0030877,MedGen:C5436886,OMIM:619143] | |
87_HIS | ASN |
ClinVar chr1:84649744 rs748898273 |
Pathogenic | - | - | Cardioacrofacial dysplasia 2 [MONDO:MONDO:0030877,MedGen:C5436886,OMIM:619143] | |
87_HIS | LEU |
ClinVar chr1:84649745 - |
Pathogenic | - | - | Cardioacrofacial dysplasia 2 [MONDO:MONDO:0030877,MedGen:C5436886,OMIM:619143] | |
90_ASN | LYS |
8.3kJPN chr9:71628736 rs758425612 |
- | 0.0001 | - | - | |
93_ARG | GLY |
8.3kJPN chr9:71628729 - |
- | 0.0001 | - | - | |
105_ARG | GLN |
gnomAD chr1:84649799 rs36117118 |
- | 0.000154803 | - | - | |
136_GLY | ARG |
ClinVar chr19:14211648 rs148280386 |
Pathogenic/Likely pathogenic | - | - | Cardioacrofacial dysplasia 1|not provided [MONDO:MONDO:0030876,MedGen:C5436885,OMIM:619142|MedGen:CN517202] | |
136_GLY | ARG |
8.3kJPN chr9:71628600 rs571783065 |
- | 0.0001 | - | - | |
147_ALA | THR |
8.3kJPN chr19:14208680 rs1192231636 |
- | 0.0001 | - | - | |
151_VAL | ILE |
8.3kJPN chr19:14208668 rs1271103680 |
- | 0.0001 | - | - | |
165_ARG | CYS |
8.3kJPN chr9:71628513 - |
- | 0.0001 | - | - | |
196_TRP | ARG |
8.3kJPN chr1:84663454 rs772092967 |
- | 0.0001 | - | - | |
205_LEU | ARG |
ClinVar chr19:14208416 rs386352352 |
Pathogenic/Likely pathogenic | - | - | not provided|Pigmented nodular adrenocortical disease, primary, 4|ACTH-independent adrenal Cushing syndrome, somatic [MedGen:C3661900|MONDO:MONDO:0014359,MedGen:C4014425,OMIM:615830,Orphanet:189439|MONDO:MONDO:0800377,MedGen:CN322664] | |
223_ALA | ASP |
8.3kJPN chr9:71628338 rs778655344 |
- | 0.0001 | - | - | |
234_GLY | ARG |
ClinVar chr1:84668426 rs1670492319 |
Pathogenic | - | - | Cardioacrofacial dysplasia 2 [MONDO:MONDO:0030877,MedGen:C5436886,OMIM:619143] | |
246_ILE | SER |
8.3kJPN chr9:71628269 - |
- | 0.0001 | - | - | |
265_LEU | PHE |
gnomAD chr9:71628213 rs202063130 |
- | 0.000119322 | - | - | |
265_LEU | PHE |
8.3kJPN chr9:71628213 rs202063130 |
- | 0.001 | - | - | |
267_HIS | ASP |
gnomAD chr9:71628207 rs3730386 |
- | 0.268079 | - | - | |
267_HIS | ASP |
8.3kJPN chr9:71628207 rs3730386 |
- | 0.2337 | - | - | |
274_GLN | TER |
8.3kJPN chr9:71628186 - |
- | 0.0001 | - | - | |
293_ASN | SER |
8.3kJPN chr19:14204489 - |
- | 0.0001 | - | - | |
295_LYS | ARG |
gnomAD chr9:71628122 rs146127115 |
- | 0.000119288 | - | - | |
299_THR | MET |
gnomAD chr1:84679969 rs143624941 |
- | 0.000677373 | - | - | |
308_LYS | ARG |
gnomAD chr9:71628083 rs112974235 |
- | 0.00021472 | - | - | |
319_THR | SER |
8.3kJPN chr9:71628051 - |
- | 0.0001 | - | - |