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 |
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 |
Only interaction residues |
|
||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
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] |