| PDB ID | 4AP2
|
CHAIN | B |
|---|---|---|---|
| Protein name | CULLIN-3 | ||
| Uniprot Accession | Q13618 | ||
| The number of similar proteins | 7 | ||
| The number of binding states | 4 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
Downdload
Molecule viewer
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Only interaction residues |
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Sequence information
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Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 32_SER | ASN |
8.3kJPN chr2:225422545 - |
- | 0.0001 | 0.0942 | - | |
| 58_TYR | CYS |
ClinVar chr2:225422467 rs1553535841 |
Likely pathogenic | - | 0.9996 | not provided|Autosomal dominant pseudohypoaldosteronism type 1|NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES [MedGen:CN517202|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756|] | |
| 62_TYR | CYS |
ClinVar chr2:225422455 - |
Likely pathogenic | - | 0.9998 | not provided [MedGen:CN517202] | |
| 85_LEU | PRO |
ClinVar chr2:225422386 - |
Pathogenic | - | 0.9999 | not provided [MedGen:C3661900] | |
| 90_ARG | TER |
ClinVar chr2:225400355 - |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
| 128_ARG | CYS |
ClinVar chr2:225379486 - |
Likely pathogenic | - | 0.9999 | not provided [MedGen:CN517202] | |
| 148_ARG | TER |
ClinVar chr2:225379426 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 150_GLN | ARG |
8.3kJPN chr2:225379419 - |
- | 0.0001 | 0.3288 | - | |
| 153_ARG | HIS |
8.3kJPN chr2:225379410 rs972626651 |
- | 0.0001 | 0.7582 | - | |
| 178_VAL | ILE |
8.3kJPN chr2:225379336 rs1200173088 |
- | 0.0001 | 0.1563 | - | |
| 184_ARG | SER |
VAR_048839
rs17480168 |
LB/B | - | 0.9922 | - | |
| 188_GLN | TER |
ClinVar chr2:225378333 rs2106221030 |
Likely pathogenic | - | - | Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926] | |
| 193_LEU | TER |
ClinVar chr2:225378317 rs2106220962 |
Pathogenic | - | - | Complex neurodevelopmental disorder [MONDO:MONDO:0100038,MedGen:C5568766] | |
| 199_SER | TER |
ClinVar chr2:225378299 rs981700726 |
Pathogenic | - | - | NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES [-] | |
| 203_GLU | TER |
ClinVar chr2:225378288 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 214_ALA | GLY |
ClinVar chr2:225378254 rs1692920727 |
Pathogenic | - | 0.2085 | Pseudohypoaldosteronism type 2E [MONDO:MONDO:0013782,MedGen:C3469606,OMIM:614496,Orphanet:300530,Orphanet:757] | |
| 218_GLN | TER |
ClinVar chr2:225378243 - |
Pathogenic | - | - | Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239] | |
| 247_ARG | TER |
ClinVar chr2:225376215 rs201496024 |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
| 271_LYS | ARG |
gnomAD chr2:225376142 rs747230483 |
- | 0.000194967 | 0.0771 | - | |
| 285_VAL | ALA |
VAR_085407
rs1343840421 |
LP/P | - | 0.7456 | Neurodevelopmental disorder with or without autism or seizures (NEDAUS) [MIM:619239] | |
| 285_VAL | ALA |
ClinVar chr2:225376100 rs1343840421 |
Pathogenic | - | 0.7456 | Neurodevelopmental disorder without autism with seizures [-] | |
| 286_HIS | ARG |
8.3kJPN chr2:225376097 rs530205226 |
- | 0.0001 | 0.8596 | - | |
| 291_GLY | GLU |
8.3kJPN chr2:225376082 - |
- | 0.0001 | 0.2529 | - |