| 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) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 15_ARG | TRP |
8.3kJPN chr14:54417052 |
rs745803587
|
- | 0.0001 | - | |
| 18_PRO | THR |
8.3kJPN chr20:6759443 |
rs1455627279
|
- | 0.0001 | - | |
| 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 | - | Transposition of the great arteries, dextro-looped [MONDO:MONDO:0012128,MedGen:C1837341,OMIM:608808,Orphanet:860] | |
| 46_GLU | LYS |
ClinVar chr20:6759527 |
-
|
Pathogenic | - | 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 | - | Orofacial cleft 11 [MONDO:MONDO:0010906,MedGen:C2677434,OMIM:600625] | |
| 65_THR | MET |
gnomAD chr20:6759585 |
rs148745143
|
- | 0.000190929 | - | |
| 69_SER | CYS |
ClinVar chr20:6759597 |
-
|
Pathogenic | - | 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 | - | |
| 79_CYS | TYR |
ClinVar chr14:54416859 |
-
|
Likely pathogenic | - | 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 | - | |
| 105_ASP | GLY | VAR_052570 |
rs11545591
|
LB/B | - | - | |
| 114_ARG | HIS |
gnomAD chr20:6759732 |
rs151019338
|
- | 0.000169598 | - |