PDB ID | 1F42
|
CHAIN | A |
---|---|---|---|
Protein name | INTERLEUKIN-12 BETA CHAIN | ||
Uniprot Accession | P29460 | ||
The number of similar proteins | 17 | ||
The number of binding states | 10 | ||
The number of binding partners | 8 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1F42 (CHAIN: A) | |
1 | Monomeric state |
2 |
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3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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10 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
11_VAL | ILE |
VAR_020001
rs3213096 |
LB/B | - | 0.0912 | - | |
11_VAL | ILE |
gnomAD chr5:158750329 rs3213096 |
- | 0.00633204 | 0.0912 | - | |
11_VAL | ILE |
8.3kJPN chr5:158750329 rs3213096 |
- | 0.0001 | 0.0912 | - | |
42_GLN | HIS |
8.3kJPN chr5:158750234 - |
- | 0.0001 | 0.0968 | - | |
48_GLY | SER |
8.3kJPN chr5:158750218 rs201684769 |
- | 0.0001 | 0.1513 | - | |
56_GLN | PRO |
8.3kJPN chr5:158750193 rs1361534479 |
- | 0.0001 | 0.084 | - | |
65_GLN | TER |
ClinVar chr5:158750167 rs1562113567 |
Pathogenic | - | - | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency [MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558] | |
72_GLY | SER |
8.3kJPN chr5:158750146 - |
- | 0.0001 | 0.0673 | - | |
73_GLU | LYS |
gnomAD chr5:158750143 rs56287471 |
- | 0.000377893 | 0.0592 | - | |
78_SER | LEU |
gnomAD chr5:158750127 rs144694601 |
- | 0.000131274 | 0.0759 | - | |
87_ASP | TYR |
8.3kJPN chr5:158750101 - |
- | 0.0001 | 0.1312 | - | |
93_ASP | ASN |
8.3kJPN chr5:158750083 - |
- | 0.0002 | 0.1674 | - | |
102_LYS | ARG |
8.3kJPN chr5:158749513 rs199703726 |
- | 0.0008 | 0.0779 | - | |
133_SER | ASN |
8.3kJPN chr5:158749420 rs1409483647 |
- | 0.0001 | 0.0877 | - | |
147_THR | MET |
gnomAD chr5:158747505 rs565345523 |
- | 0.000163266 | 0.1035 | - | |
147_THR | LYS |
8.3kJPN chr5:158747505 - |
- | 0.0001 | 0.1479 | - | |
148_CYS | TER |
ClinVar chr5:158747501 rs771036480 |
Pathogenic | - | - | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency [MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558] | |
157_ARG | THR |
gnomAD chr5:158747475 rs375159171 |
- | 0.000127379 | 0.074 | - | |
160_GLY | ARG |
gnomAD chr5:158747467 rs10045130 |
- | 0.000362261 | 0.0912 | - | |
191_ASP | ASN |
8.3kJPN chr5:158747374 - |
- | 0.0001 | 0.1235 | - | |
193_VAL | ILE |
8.3kJPN chr5:158747368 rs79446920 |
- | 0.0001 | 0.0569 | - | |
204_SER | ASN |
gnomAD chr5:158747334 rs55661460 |
- | 0.00220801 | 0.1606 | - | |
204_SER | ASN |
8.3kJPN chr5:158747334 rs55661460 |
- | 0.0367 | 0.1606 | - | |
222_LYS | ARG |
8.3kJPN chr5:158745868 - |
- | 0.0001 | 0.08 | - | |
228_ARG | GLN |
gnomAD chr5:158745850 rs74644143 |
- | 0.000461405 | 0.0727 | - | |
253_VAL | ILE |
gnomAD chr5:158745776 rs189324104 |
- | 0.00023465 | 0.0671 | - | |
255_VAL | PHE |
8.3kJPN chr5:158745770 - |
- | 0.0001 | 0.1344 | - | |
266_ARG | THR |
gnomAD chr5:158743817 rs370904274 |
- | 0.00110552 | 0.0613 | - | |
269_THR | MET |
gnomAD chr5:158743808 rs367828574 |
- | 0.000149554 | 0.0735 | - | |
276_VAL | PHE |
VAR_049170
rs3213119 |
LB/B | - | 0.1874 | - | |
276_VAL | PHE |
gnomAD chr5:158743788 rs3213119 |
- | 0.0207309 | 0.1874 | - | |
278_CYS | TER |
ClinVar chr5:158743780 rs1290071275 |
Pathogenic | - | - | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency [MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558] | |
279_ARG | CYS |
8.3kJPN chr5:158743779 rs780789325 |
- | 0.0001 | 0.1201 | - | |
291_ARG | HIS |
8.3kJPN chr5:158743742 rs377524637 |
- | 0.0001 | 0.1317 | - | |
294_SER | GLY |
8.3kJPN chr5:158743734 - |
- | 0.0002 | 0.0759 | - | |
303_VAL | MET |
gnomAD chr5:158743707 rs56064925 |
- | 0.000104486 | 0.1265 | - | |
305_CYS | TER |
8.3kJPN chr5:158743699 rs138991749 |
- | 0.0004 | - | - |