| PDB ID | 1ES7
|
CHAIN | A |
|---|---|---|---|
| Protein name | BONE MORPHOGENETIC PROTEIN-2 | ||
| Uniprot Accession | P12643 | ||
| The number of similar proteins | 30 | ||
| The number of binding states | 11 | ||
| The number of binding partners | 7 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1ES7 (CHAIN: A) | |
| 1 |
P12643
P36894
P36894
|
| 2 | Monomeric state |
| 3 |
Q6NW40
|
| 4 |
Q13253
|
| 5 |
P43026
|
| 6 |
P36894
P27038
|
| 7 |
P12643
P36894
|
| 8 |
P12643
Q96B86
|
| 9 |
Q6NW40
P97798
|
| 10 |
P12643
P36894
Q3KQI1
|
| 11 |
P12643
Q5D734
Q5D734
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 15_ARG | TRP |
8.3kJPN chr14:54417052 rs745803587 |
- | 0.0001 | - | - | |
| 18_PRO | THR |
8.3kJPN chr20:6759443 rs1455627279 |
- | 0.0001 | 0.1981 | - | |
| 31_TRP | TER |
ClinVar chr20:6759484 rs1600173481 |
Likely pathogenic | - | - | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [MONDO:MONDO:0031439,MedGen:CN294045,OMIM:PS617877] | |
| 39_HIS | LEU |
ClinVar chr20:6759507 - |
Pathogenic | - | 0.306 | Transposition of the great arteries, dextro-looped [MONDO:MONDO:0012128,MedGen:C1837341,OMIM:608808,Orphanet:860] | |
| 46_GLU | LYS |
ClinVar chr20:6759527 - |
Pathogenic | - | 0.8087 | Ventricular septal defect 1 [MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429] | |
| 47_CYS | TER |
ClinVar chr20:6759532 rs1555786156 |
Likely pathogenic | - | - | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies|Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 [MONDO:MONDO:0031439,MedGen:CN294045,OMIM:PS617877|MONDO:MONDO:0100297,MedGen:C5542952,OMIM:617877] | |
| 52_ALA | VAL |
ClinVar chr14:54416940 rs121912766 |
Pathogenic | - | 0.7827 | Orofacial cleft 11 [MONDO:MONDO:0010906,MedGen:C2677434,OMIM:600625] | |
| 65_THR | MET |
gnomAD chr20:6759585 rs148745143 |
- | 0.000190929 | 0.8668 | - | |
| 69_SER | CYS |
ClinVar chr20:6759597 - |
Pathogenic | - | 0.9503 | Atrial septal defect 1 [MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478] | |
| 73_SER | ILE |
8.3kJPN chr14:54416877 - |
- | 0.0001 | - | - | |
| 74_ILE | VAL |
8.3kJPN chr20:6759611 - |
- | 0.0001 | 0.4007 | - | |
| 79_CYS | TYR |
ClinVar chr14:54416859 - |
Likely pathogenic | - | 0.9999 | Irido-corneo-trabecular dysgenesis [Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708] | |
| 93_ASP | GLU |
8.3kJPN chr20:6759670 - |
- | 0.0001 | 0.9744 | - | |
| 105_ASP | GLY |
VAR_052570
rs11545591 |
LB/B | - | 0.9406 | - | |
| 114_ARG | HIS |
gnomAD chr20:6759732 rs151019338 |
- | 0.000169598 | 0.9554 | - |