PDB ID | 1ES7
|
CHAIN | A |
---|---|---|---|
Protein name | BONE MORPHOGENETIC PROTEIN-2 | ||
Uniprot Accession | P12643 | ||
The number of similar proteins | 26 | ||
The number of binding states | 10 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1ES7 (CHAIN: A) | |
1 |
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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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Only interaction residues |
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
15_ARG | TRP |
8.3kJPN chr14:54417052 |
rs745803587
|
- | 0.0001 | - | |
18_PRO | THR |
8.3kJPN chr20:6759443 |
rs1455627279
|
- | 0.0001 | - | |
47_CYS | TER |
ClinVar chr20:6759532 |
rs1555786156
|
Pathogenic | - | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES [MedGen:C4693481,OMIM:617877] | |
52_ALA | VAL |
ClinVar chr14:54416940 |
rs121912766
|
Pathogenic | - | Orofacial cleft 11 [MedGen:C2677434,OMIM:600625] | |
65_THR | MET |
gnomAD chr20:6759585 |
rs148745143
|
- | 0.000190929 | - | |
73_SER | ILE |
8.3kJPN chr14:54416877 |
-
|
- | 0.0001 | - | |
74_ILE | VAL |
8.3kJPN chr20:6759611 |
-
|
- | 0.0001 | - | |
93_ASP | GLU |
8.3kJPN chr20:6759670 |
-
|
- | 0.0001 | - | |
105_ASP | GLY | VAR_052570 |
rs11545591
|
Polymorphism | - | - | |
114_ARG | HIS |
gnomAD chr20:6759732 |
rs151019338
|
- | 0.000169598 | - |