| PDB ID | 3DI2
|
CHAIN | B |
|---|---|---|---|
| Protein name | Interleukin-7 receptor subunit alpha | ||
| Uniprot Accession | P16871 | ||
| The number of similar proteins | 8 | ||
| The number of binding states | 5 | ||
| The number of binding partners | 7 | ||
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 | |
|---|---|---|---|---|---|---|---|
| 22_CYS | TRP |
ClinVar chr5:35860997 rs1759788196 |
Pathogenic | - | 0.9844 | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 25_GLN | HIS |
ClinVar chr5:35861006 rs200464578 |
Likely pathogenic | - | 0.6603 | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 31_SER | LEU |
gnomAD chr5:35861023 rs138482569 |
- | 0.000155284 | 0.1096 | - | |
| 31_SER | LEU |
8.3kJPN chr5:35861023 rs138482569 |
- | 0.0005 | 0.1096 | - | |
| 40_GLU | LYS |
8.3kJPN chr5:35861049 rs772586152 |
- | 0.0001 | 0.1216 | - | |
| 46_ILE | THR |
gnomAD chr5:35861068 rs1494558 |
- | 0.618323 | - | - | |
| 46_ILE | THR |
8.3kJPN chr5:35861068 rs1494558 |
- | 0.4185 | - | - | |
| 49_LEU | VAL |
ClinVar chr5:35861076 rs1580851879 |
Likely pathogenic | - | 0.0975 | Multiple myeloma [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443] | |
| 51_PHE | SER |
ClinVar chr5:35861083 rs147423300 |
Likely pathogenic | - | 0.9358 | not provided [MedGen:CN517202] | |
| 52_GLU | TER |
ClinVar chr5:35861085 - |
Pathogenic | - | - | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 52_GLU | GLN |
gnomAD chr5:35861085 rs148001159 |
- | 0.000243009 | 0.1295 | - | |
| 56_ALA | ASP |
8.3kJPN chr5:35867413 rs755030275 |
- | 0.0001 | 0.3126 | - | |
| 59_GLU | TER |
ClinVar chr5:35867421 rs1354581284 |
Pathogenic | - | - | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 60_VAL | ALA |
gnomAD chr5:35867425 rs200475138 |
- | 0.000549805 | 0.173 | - | |
| 69_GLN | TER |
ClinVar chr5:35867451 rs141698985 |
Likely pathogenic | - | - | Histiocytic medullary reticulosis|not provided|Immunodeficiency 104 [MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MedGen:C3661900|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 75_GLU | LYS |
gnomAD chr5:35867469 rs191585195 |
- | 0.000557871 | 0.074 | - | |
| 85_SER | ASN |
gnomAD chr5:35867500 rs150051812 |
- | 0.000410502 | 0.4072 | - | |
| 85_SER | CYS |
8.3kJPN chr5:35867499 - |
- | 0.0001 | 0.1808 | - | |
| 85_SER | ASN |
8.3kJPN chr5:35867500 rs150051812 |
- | 0.0012 | 0.4072 | - | |
| 91_VAL | VAL |
ClinVar chr5:35867519 rs199641706 |
Pathogenic | - | - | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 93_GLU | ASP |
VAR_021287
rs11567735 |
LB/B | - | 0.1081 | - | |
| 93_GLU | ASP |
gnomAD chr5:35867525 rs11567735 |
- | 0.00030703 | 0.1081 | - | |
| 98_CYS | TYR |
ClinVar chr5:35867539 rs193922641 |
Pathogenic | - | 0.7605 | Severe combined immunodeficiency disease|Immunodeficiency 104|not provided [Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:C3661900] | |
| 99_LYS | TER |
ClinVar chr5:35867541 rs1448018291 |
Pathogenic | - | - | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 106_ILE | LEU |
gnomAD chr5:35867562 rs201207454 |
- | 0.000108059 | 0.2083 | - | |
| 107_VAL | ILE |
ClinVar chr5:35867565 rs1759969389 |
Pathogenic | - | 0.1533 | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 107_VAL | ILE |
8.3kJPN chr5:35867565 - |
- | 0.0001 | 0.1533 | - | |
| 112_PRO | SER |
VAR_034870
rs104893894 |
LP/P | - | 0.9691 | Immunodeficiency 104 (IMD104) [MIM:608971] | |
| 112_PRO | SER |
ClinVar chr5:35871172 rs104893894 |
Pathogenic | - | 0.9691 | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 115_LEU | PRO |
8.3kJPN chr5:35871182 - |
- | 0.0001 | 0.8713 | - | |
| 118_VAL | ILE |
VAR_021288
rs1494555 |
LB/B | - | 0.0583 | - | |
| 118_VAL | ILE |
gnomAD chr5:35871190 rs1494555 |
- | 0.639473 | 0.0583 | - | |
| 118_VAL | ILE |
8.3kJPN chr5:35871190 rs1494555 |
- | 0.4771 | 0.0583 | - | |
| 120_ARG | TRP |
gnomAD chr5:35871196 rs773491081 |
- | 0.000143321 | 0.361 | - | |
| 120_ARG | GLN |
gnomAD chr5:35871197 rs200373233 |
- | 0.000354268 | 0.1629 | - | |
| 120_ARG | TRP |
8.3kJPN chr5:35871196 rs773491081 |
- | 0.0003 | 0.361 | - | |
| 123_ALA | THR |
8.3kJPN chr5:35871205 rs372676633 |
- | 0.0002 | 0.5576 | - | |
| 124_ASN | SER |
8.3kJPN chr5:35871209 - |
- | 0.0001 | 0.1155 | - | |
| 128_VAL | LEU |
gnomAD chr5:35871220 rs200332345 |
- | 0.000314405 | 0.4719 | - | |
| 134_HIS | TYR |
8.3kJPN chr5:35871238 rs199727195 |
- | 0.0026 | 0.3938 | - | |
| 136_GLN | TER |
ClinVar chr5:35871244 - |
Pathogenic | - | - | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 148_ALA | SER |
8.3kJPN chr5:35871280 - |
- | 0.0001 | 0.2203 | - | |
| 150_ARG | HIS |
gnomAD chr5:35871287 rs149161098 |
- | 0.000270785 | 0.0742 | - | |
| 159_THR | MET |
8.3kJPN chr5:35871314 rs200751605 |
- | 0.0006 | 0.0476 | - | |
| 165_SER | CYS |
ClinVar chr5:35873597 rs1057519759 |
Likely pathogenic | - | 0.307 | Lymphoblastic leukemia, acute, with lymphomatous features [MONDO:MONDO:0009539,MedGen:C1855472,OMIM:247640,Orphanet:513] | |
| 172_GLN | PRO |
8.3kJPN chr5:35873619 - |
- | 0.0001 | 0.5097 | - | |
| 178_ALA | THR |
8.3kJPN chr5:35873636 - |
- | 0.0002 | 0.0911 | - | |
| 181_TYR | CYS |
gnomAD chr5:35873646 rs145810271 |
- | 0.000334773 | 0.9644 | - | |
| 186_ARG | TER |
ClinVar chr5:35873660 rs201559094 |
Pathogenic | - | - | not provided|Immunodeficiency 104 [MedGen:C3661900|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 186_ARG | TER |
8.3kJPN chr5:35873660 rs201559094 |
- | 0.0001 | - | - | |
| 186_ARG | GLN |
8.3kJPN chr5:35873661 rs193922644 |
- | 0.0001 | 0.6931 | - | |
| 192_TYR | TER |
ClinVar chr5:35873680 rs786205572 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 195_GLY | VAL |
ClinVar chr5:35873688 rs193922645 |
Likely pathogenic | - | 0.971 | Severe combined immunodeficiency disease|not provided|Immunodeficiency 104 [Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660|MedGen:C3661900|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 197_TRP | TER |
ClinVar chr5:35873695 rs104893893 |
Pathogenic | - | - | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 201_SER | ILE |
ClinVar chr5:35873706 rs587778405 |
Pathogenic | - | 0.9591 | not specified|not provided|Immunodeficiency 104|Severe combined immunodeficiency disease [MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|Human Phenotype Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660] | |
| 205_TYR | TER |
ClinVar chr5:35873719 rs1390410878 |
Pathogenic | - | - | Immunodeficiency 104 [MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971] | |
| 209_PRO | SER |
gnomAD chr5:35873729 rs774177784 |
- | 0.000107625 | 0.2029 | - |