| PDB ID | 1F16
|
CHAIN | A |
|---|---|---|---|
| Protein name | PROTEIN (APOPTOSIS REGULATOR BAX, MEMBRANE ISOFORM ALPHA) | ||
| Uniprot Accession | Q07812 | ||
| The number of similar proteins | 23 | ||
| The number of binding states | 4 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
Downdload
Molecule viewer
|
Only interaction residues |
|
||||||||
|
Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 3_GLY | ARG |
8.3kJPN chr19:49458192 - |
- | 0.0001 | 0.4914 | - | |
| 11_GLY | GLU |
VAR_013575
rs555248599 |
LB/B | - | 0.2031 | - | |
| 11_GLY | GLU |
8.3kJPN chr19:49458217 rs555248599 |
- | 0.0023 | 0.2031 | - | |
| 31_ILE | VAL |
8.3kJPN chr19:49458948 - |
- | 0.0001 | 0.4718 | - | |
| 37_ARG | GLN |
gnomAD chr19:49458967 rs751678403 |
- | 0.000128152 | 0.065 | - | |
| 39_GLY | ARG |
VAR_047053
rs36017265 |
LB/B | - | 0.1605 | - | |
| 39_GLY | ARG |
gnomAD chr19:49458972 rs36017265 |
- | 0.0002558 | 0.1605 | - | |
| 39_GLY | ALA |
gnomAD chr19:49458973 rs147630961 |
- | 0.000104002 | 0.0788 | - | |
| 39_GLY | VAL |
gnomAD chr19:49458973 rs147630961 |
- | 0.000304005 | 0.1216 | - | |
| 39_GLY | ARG |
8.3kJPN chr19:49458972 rs36017265 |
- | 0.0001 | 0.1605 | - | |
| 39_GLY | VAL |
8.3kJPN chr19:49458973 rs147630961 |
- | - | 0.1216 | - | |
| 44_GLU | LYS |
8.3kJPN chr19:49458987 - |
- | 0.0001 | 0.1011 | - | |
| 67_GLY | ARG |
VAR_007809
rs398122513 |
US | - | 0.9973 | A T-cell acute lymphoblastic leukemia cell line | |
| 67_GLY | ARG |
ClinVar chr19:49459056 rs398122513 |
Pathogenic | - | 0.9973 | T-cell acute lymphoblastic leukemia [Human Phenotype Ontology:HP:0006727,MONDO:MONDO:0004963,MedGen:C1961099] | |
| 72_SER | GLY |
8.3kJPN chr19:49459071 - |
- | 0.0001 | 0.0617 | - | |
| 83_VAL | MET |
8.3kJPN chr19:49459468 rs777326329 |
- | 0.0002 | 0.691 | - | |
| 88_PRO | HIS |
8.3kJPN chr19:49459484 - |
- | 0.0001 | 0.9777 | - | |
| 89_ARG | GLN |
8.3kJPN chr19:49459487 rs202190487 |
- | 0.0001 | 0.1392 | - | |
| 96_ALA | VAL |
8.3kJPN chr19:49459508 - |
- | 0.0001 | 0.9283 | - | |
| 108_GLY | VAL |
VAR_013576
- |
US | - | 0.9988 | A Burkitt lymphoma | |
| 133_ILE | MET |
8.3kJPN chr19:49464096 - |
- | 0.0001 | 0.5652 | - | |
| 147_ARG | TRP |
8.3kJPN chr19:49464136 rs375752615 |
- | 0.0001 | 0.628 | - | |
| 151_TRP | CYS |
8.3kJPN chr19:49464150 - |
- | 0.0001 | 0.9996 | - |