| PDB ID | 1Z2M
|
CHAIN | A |
|---|---|---|---|
| Protein name | interferon, alpha-inducible protein (clone IFI-15K) | ||
| Uniprot Accession | P05161 | ||
| The number of similar proteins | 11 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1Z2M (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
K4LC41
|
| 3 |
9NN9
|
| 4 |
P03502
|
| 5 |
Q6TQF5
|
| 6 |
P03502
P03502
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 6_THR | MET |
gnomAD chr1:949377 rs199853706 |
- | 0.000105816 | 0.0965 | - | |
| 6_THR | MET |
8.3kJPN chr1:949377 rs199853706 |
- | 0.0002 | 0.0965 | - | |
| 21_SER | ASN |
gnomAD chr1:949422 rs143888043 |
- | 0.00131018 | 0.0733 | - | |
| 38_VAL | MET |
8.3kJPN chr1:949472 rs202075563 |
- | 0.0008 | 0.2573 | - | |
| 44_ARG | HIS |
gnomAD chr1:949491 rs148041041 |
- | 0.000103794 | 0.0897 | - | |
| 48_HIS | TYR |
gnomAD chr1:949502 rs150861311 |
- | 0.000103852 | 0.0942 | - | |
| 49_PRO | LEU |
8.3kJPN chr1:949506 rs760355237 |
- | 0.0002 | 0.192 | - | |
| 51_GLY | CYS |
gnomAD chr1:949511 rs139516378 |
- | 0.000495516 | 0.2636 | - | |
| 51_GLY | SER |
8.3kJPN chr1:949511 rs139516378 |
- | 0.0001 | 0.1459 | - | |
| 53_ALA | VAL |
8.3kJPN chr1:949518 rs146063673 |
- | 0.0002 | 0.0782 | - | |
| 55_GLN | TER |
ClinVar chr1:949523 rs786201005 |
Pathogenic | - | - | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126,Orphanet:319563] | |
| 76_ASP | ASN |
8.3kJPN chr1:949586 - |
- | 0.0003 | 0.121 | - | |
| 83_SER | ASN |
VAR_016181
rs1921 |
LB/B | - | 0.0873 | - | |
| 83_SER | ASN |
gnomAD chr1:949608 rs1921 |
- | 0.359335 | 0.0873 | - | |
| 83_SER | ASN |
8.3kJPN chr1:949608 rs1921 |
- | 0.1808 | 0.0873 | - | |
| 92_ARG | CYS |
8.3kJPN chr1:949634 - |
- | 0.0001 | 0.1466 | - | |
| 97_GLU | LYS |
8.3kJPN chr1:949649 rs554446856 |
- | 0.0001 | 0.1102 | - | |
| 99_ARG | TRP |
8.3kJPN chr1:949655 rs770462897 |
- | 0.0001 | 0.1158 | - | |
| 127_GLU | TER |
ClinVar chr1:949739 rs672601312 |
Likely pathogenic | - | - | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [MONDO:MONDO:0014502,MedGen:C4015293,OMIM:616126,Orphanet:319563] | |
| 127_GLU | TER |
8.3kJPN chr1:949739 rs672601312 |
- | 0.0001 | - | - | |
| 141_GLY | SER |
gnomAD chr1:949781 rs138829117 |
- | 0.000404502 | 0.114 | - | |
| 141_GLY | SER |
8.3kJPN chr1:949781 rs138829117 |
- | 0.0001 | 0.114 | - | |
| 147_THR | ILE |
8.3kJPN chr1:949800 rs773590823 |
- | 0.0001 | 0.4524 | - | |
| 148_VAL | MET |
gnomAD chr1:949802 rs202194159 |
- | 0.00013256 | 0.6569 | - | |
| 153_ARG | CYS |
8.3kJPN chr1:949817 rs1339706366 |
- | 0.0002 | 0.3299 | - | |
| 153_ARG | HIS |
8.3kJPN chr1:949818 rs1557674450 |
- | 0.0001 | 0.2216 | - |