PDB ID | 1IVO
|
CHAIN | A |
---|---|---|---|
Protein name | Epidermal Growth Factor Receptor | ||
Uniprot Accession | P00533 | ||
The number of similar proteins | 23 | ||
The number of binding states | 9 | ||
The number of binding partners | 7 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1IVO (CHAIN: A) | |
1 |
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2 | Monomeric state |
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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Only interaction residues |
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Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
11_SER | ASN |
8.3kJPN chr7:55209994 rs1406387936 |
- | 0.0001 | 0.1196 | - | |
21_GLU | LYS |
8.3kJPN chr7:55210023 - |
- | 0.0001 | 0.1494 | - | |
28_GLN | TER |
ClinVar chr7:55210044 rs2128926255 |
Pathogenic | - | - | EGFR-related lung cancer [MedGen:CN130014] | |
30_MET | THR |
8.3kJPN chr7:55210051 - |
- | 0.0001 | 0.4051 | - | |
47_GLN | TER |
ClinVar chr7:55210101 - |
Pathogenic | - | - | EGFR-related lung cancer [MedGen:CN130014] | |
74_ARG | GLN |
VAR_019293
rs17289589 |
LB/B | - | 0.0707 | - | |
74_ARG | GLN |
gnomAD chr7:55211050 rs17289589 |
- | 0.000111338 | 0.0707 | - | |
84_ARG | LYS |
ClinVar chr7:55211080 rs1057519828 |
Likely pathogenic | - | 0.909 | Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118] | |
84_ARG | GLY |
ClinVar chr7:55211079 rs1057519888 |
Likely pathogenic | - | 0.9917 | Glioblastoma|Neoplasm of brain|Brainstem glioma [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865] | |
215_GLY | ALA |
8.3kJPN chr7:55220326 rs1447176163 |
- | 0.0002 | 0.8932 | - | |
220_ARG | TRP |
8.3kJPN chr7:55220340 rs554981236 |
- | 0.0001 | 0.4378 | - | |
223_ASP | HIS |
8.3kJPN chr7:55220349 rs780001754 |
- | 0.0002 | 0.8075 | - | |
231_ARG | TER |
ClinVar chr7:55221719 rs776490661 |
Pathogenic | - | - | EGFR-related lung cancer [MedGen:CN130014] | |
233_GLU | LYS |
gnomAD chr7:55221725 rs138847501 |
- | 0.000115328 | 0.16 | - | |
239_THR | PRO |
ClinVar chr7:55221743 rs1057519829 |
Likely pathogenic | - | 0.4747 | Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118] | |
242_PRO | ARG |
VAR_019294
rs17336639 |
LB/B | - | 0.2227 | - | |
258_GLU | LYS |
gnomAD chr7:55221800 rs199796955 |
- | 0.000322109 | 0.1005 | - | |
258_GLU | LYS |
8.3kJPN chr7:55221800 rs199796955 |
- | 0.0001 | 0.1005 | - | |
265_ALA | VAL |
ClinVar chr7:55221822 rs149840192 |
Likely pathogenic | - | 0.8289 | Glioblastoma|Neoplasm of brain|Squamous cell carcinoma of the head and neck [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037] | |
265_ALA | ASP |
ClinVar chr7:55221822 rs149840192 |
Likely pathogenic | - | 0.9515 | Neoplasm of brain|Glioblastoma|Squamous cell carcinoma of the head and neck [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037] | |
269_LYS | TER |
ClinVar chr7:55221833 rs2128935161 |
Pathogenic | - | - | EGFR-related lung cancer [MedGen:CN130014] | |
302_CYS | PHE |
ClinVar chr7:55223610 rs886037891 |
Pathogenic | - | 0.9935 | Cowden syndrome 1 [MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350] | |
404_GLY | ASP |
VAR_072435
rs606231253 |
LP/P | - | 0.9982 | Inflammatory skin and bowel disease, neonatal, 2 (NISBD2) [MIM:616069] | |
404_GLY | ASP |
ClinVar chr7:55225431 rs606231253 |
Pathogenic | - | 0.9982 | Inflammatory skin and bowel disease, neonatal, 2|EGFR-related lung cancer [MONDO:MONDO:0014481,MedGen:C4015130,OMIM:616069,Orphanet:294023|MedGen:CN130014] | |
418_SER | ASN |
8.3kJPN chr7:55227858 rs765091640 |
- | 0.0014 | 0.092 | - | |
443_LYS | THR |
8.3kJPN chr7:55227933 - |
- | 0.0001 | 0.1271 | - | |
457_PHE | LEU |
8.3kJPN chr7:55227976 rs587778247 |
- | 0.0001 | 0.9423 | - | |
487_SER | TYR |
gnomAD chr7:55229225 rs371114444 |
- | 0.000107418 | 0.5334 | - | |
489_GLU | TER |
ClinVar chr7:55229230 rs754646330 |
Pathogenic | - | - | EGFR-related lung cancer [MedGen:CN130014] | |
494_PRO | LEU |
8.3kJPN chr7:55229246 rs564398642 |
- | 0.0001 | 0.1467 | - | |
497_ARG | LYS |
VAR_019295
rs2227983 |
LB/B | - | 0.0606 | - | |
497_ARG | LYS |
gnomAD chr7:55229255 rs2227983 |
- | 0.292102 | 0.0606 | - | |
497_ARG | LYS |
8.3kJPN chr7:55229255 rs2227983 |
- | 0.6191 | 0.0606 | - | |
503_ARG | GLN |
gnomAD chr7:55229273 rs150477666 |
- | 0.000131221 | 0.0621 | - | |
504_ASN | ASP |
8.3kJPN chr7:55229275 rs762336338 |
- | 0.0001 | 0.1257 | - | |
507_ARG | TER |
ClinVar chr7:55229284 rs1785707212 |
Pathogenic | - | - | EGFR-related lung cancer [MedGen:CN130014] | |
511_CYS | TER |
ClinVar chr7:55229298 rs763346690 |
Pathogenic | - | - | EGFR-related lung cancer [MedGen:CN130014] |