| PDB ID | 1IZN
|
CHAIN | A |
|---|---|---|---|
| Protein name | CapZ alpha-1 subunit | ||
| Uniprot Accession | P13127 | ||
| The number of similar proteins | 20 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 6 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1IZN (CHAIN: A) | |
| 1 |
P14315
|
| 2 |
P14315
Q6EDY6
|
| 3 |
P14315
Q6EDY6
|
| 4 |
P14315
Q91YR1
|
| 5 |
P58546
P14315
|
| 6 |
Q923G3
Q12792
P68135
P68135
|
Downdload
Molecule viewer
|
Only interaction residues |
|
||||||||||||||
|
Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 10_ASP | ASN |
gnomAD chr1:113162494 rs41283062 |
- | 0.0122157 | - | - | |
| 12_GLU | LYS |
gnomAD chr1:113162500 rs149653791 |
- | 0.00192834 | - | - | |
| 18_ALA | THR |
gnomAD chr7:116528193 rs201789411 |
- | 0.000299664 | - | - | |
| 18_ALA | VAL |
8.3kJPN chr7:116528194 - |
- | 0.0002 | - | - | |
| 23_HIS | ARG |
8.3kJPN chr7:116528209 - |
- | 0.0001 | - | - | |
| 34_ASN | SER |
8.3kJPN chr1:113189893 rs202216073 |
- | 0.0001 | - | - | |
| 34_ASN | SER |
8.3kJPN chr7:116528242 - |
- | 0.0001 | - | - | |
| 36_VAL | PHE |
8.3kJPN chr1:113192042 rs753793163 |
- | 0.0001 | - | - | |
| 44_ASN | SER |
gnomAD chr1:113192067 rs76726860 |
- | 0.000286821 | - | - | |
| 44_ASN | SER |
8.3kJPN chr1:113192067 rs76726860 |
- | 0.0088 | - | - | |
| 60_ASP | ASN |
8.3kJPN chr1:113196242 rs776501930 |
- | 0.0001 | - | - | |
| 81_ASP | ASN |
gnomAD chr7:116544252 rs370326853 |
- | 0.000497754 | - | - | |
| 90_PRO | SER |
8.3kJPN chr1:113197135 - |
- | 0.0001 | - | - | |
| 92_ASN | LYS |
gnomAD chr1:113197143 rs371346893 |
- | 0.000406151 | - | - | |
| 94_ILE | MET |
gnomAD chr7:116544293 rs144500777 |
- | 0.000202893 | - | - | |
| 100_HIS | GLN |
8.3kJPN chr7:116544311 - |
- | 0.0002 | - | - | |
| 103_LYS | GLU |
8.3kJPN chr7:116544318 - |
- | 0.0001 | - | - | |
| 112_GLU | LYS |
gnomAD chr1:113197201 rs201525157 |
- | 0.000263145 | - | - | |
| 120_TRP | CYS |
8.3kJPN chr1:113197227 - |
- | 0.0001 | - | - | |
| 126_SER | ASN |
8.3kJPN chr1:113197244 - |
- | 0.0001 | - | - | |
| 135_HIS | TYR |
gnomAD chr1:113197270 rs201509858 |
- | 0.000264247 | - | - | |
| 143_VAL | ILE |
8.3kJPN chr1:113201644 rs766629648 |
- | 0.0001 | - | - | |
| 148_ILE | THR |
8.3kJPN chr1:113201660 - |
- | 0.0002 | - | - | |
| 154_ILE | THR |
gnomAD chr1:113201678 rs552715621 |
- | 0.000139359 | - | - | |
| 157_CYS | TYR |
8.3kJPN chr1:113201687 - |
- | 0.0001 | - | - | |
| 181_ILE | VAL |
gnomAD chr7:116550321 rs141641730 |
- | 0.000417907 | - | - | |
| 181_ILE | VAL |
8.3kJPN chr7:116550321 rs141641730 |
- | 0.0001 | - | - | |
| 211_ASP | GLU |
gnomAD chr1:113209743 rs199731043 |
- | 0.00013179 | - | - | |
| 215_SER | CYS |
gnomAD chr7:116552181 rs140848019 |
- | 0.000657334 | - | - | |
| 226_LYS | ARG |
gnomAD chr1:113212184 rs147970114 |
- | 0.000155925 | - | - | |
| 232_VAL | ILE |
8.3kJPN chr7:116556150 rs1347428109 |
- | 0.0001 | - | - | |
| 256_LYS | GLU |
ClinVar chr7:116557826 rs1791701214 |
Pathogenic | - | - | Intellectual disability|not provided [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:CN517202] |