PDB ID | 1TFG | CHAIN | A |
---|---|---|---|
Protein name | TRANSFORMING GROWTH FACTOR, BETA 2 | ||
Uniprot Accession | P61812 | ||
The number of similar proteins | 10 | ||
The number of binding states | 5 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1TFG (CHAIN: A) | |
1 | Monomeric state |
2 | P26342 |
3 | P61812 4KXZ 4KXZ 4KXZ |
4 | P61812 6XM2 6XM2 6XM2 6XM2 |
5 | P61812 7RCO 7RCO 7RCO 7RCO |
Only interaction residues |
|
||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
4_ALA | VAL |
8.3kJPN chr1:218609474 |
rs989462091
|
- | 0.0001 | - | |
5_ALA | VAL |
8.3kJPN chr1:218609477 |
-
|
- | 0.0001 | - | |
9_ARG | LYS |
ClinVar chr1:218609489 |
rs1064793278
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
16_CYS | PHE |
ClinVar chr1:218610705 |
rs863223793
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
18_ARG | CYS | VAR_072740 |
rs1553303352
|
LB/B | - | - | |
18_ARG | CYS |
ClinVar chr1:218610710 |
rs1553303352
|
Pathogenic/Likely pathogenic | - | Loeys-Dietz syndrome 4|not provided [MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MedGen:C3661900] | |
18_ARG | HIS |
8.3kJPN chr1:218610711 |
rs896426406
|
- | 0.0001 | - | |
36_PRO | HIS | VAR_068934 |
rs387907278
|
LP/P | - | Loeys-Dietz syndrome 4 (LDS4) [MIM:614816] | |
36_PRO | HIS |
ClinVar chr1:218610765 |
rs387907278
|
Pathogenic | - | Loeys-Dietz syndrome 4 [MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816] | |
36_PRO | THR |
ClinVar chr1:218610764 |
rs2102630084
|
Pathogenic | - | Atrial septal defect 1 [MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478] | |
39_TYR | TER |
ClinVar chr1:218610775 |
rs1553303357
|
Pathogenic | - | Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387] | |
45_ALA | GLY |
8.3kJPN chr1:218610792 |
-
|
- | 0.0001 | - | |
65_TYR | TER |
ClinVar chr1:218614560 |
-
|
Likely pathogenic | - | Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387] | |
78_CYS | TRP |
ClinVar chr1:218614599 |
rs201129153
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
78_CYS | PHE |
ClinVar chr1:218614598 |
rs1553303745
|
Likely pathogenic | - | Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387] | |
79_VAL | MET |
8.3kJPN chr1:218614600 |
rs376159002
|
- | 0.0001 | - | |
90_TYR | CYS |
8.3kJPN chr1:218614634 |
rs1218609815
|
- | 0.0001 | - | |
94_LYS | GLN |
8.3kJPN chr1:218614645 |
rs751650226
|
- | 0.0008 | - |