PDB ID | 3B2V | CHAIN | A |
---|---|---|---|
Protein name | Epidermal growth factor receptor | ||
Uniprot Accession | P00533 | ||
The number of similar proteins | 23 | ||
The number of binding states | 7 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3B2V (CHAIN: A) | |
1 | 3B2V 3B2V |
2 | Monomeric state |
3 | 3QWQ |
4 | P01133 |
5 | E0ACT6 |
6 | P00533 P01133 |
7 | 4KRO 4KRO 4KRO |
Only interaction residues |
|
||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
239_THR | PRO |
ClinVar chr7:55221743 |
rs1057519829
|
Likely pathogenic | - | Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118] | |
242_PRO | ARG | VAR_019294 |
rs17336639
|
LB/B | - | - | |
258_GLU | LYS |
gnomAD chr7:55221800 |
rs199796955
|
- | 0.000322109 | - | |
258_GLU | LYS |
8.3kJPN chr7:55221800 |
rs199796955
|
- | 0.0001 | - | |
265_ALA | VAL |
ClinVar chr7:55221822 |
rs149840192
|
Likely pathogenic | - | 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 | - | 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 | - | Cowden syndrome 1 [MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350] | |
404_GLY | ASP | VAR_072435 |
rs606231253
|
LP/P | - | Inflammatory skin and bowel disease, neonatal, 2 (NISBD2) [MIM:616069] | |
404_GLY | ASP |
ClinVar chr7:55225431 |
rs606231253
|
Pathogenic | - | 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 | - | |
443_LYS | THR |
8.3kJPN chr7:55227933 |
-
|
- | 0.0001 | - | |
457_PHE | LEU |
8.3kJPN chr7:55227976 |
rs587778247
|
- | 0.0001 | - | |
487_SER | TYR |
gnomAD chr7:55229225 |
rs371114444
|
- | 0.000107418 | - | |
489_GLU | TER |
ClinVar chr7:55229230 |
rs754646330
|
Pathogenic | - | EGFR-related lung cancer [MedGen:CN130014] | |
494_PRO | LEU |
8.3kJPN chr7:55229246 |
rs564398642
|
- | 0.0001 | - | |
497_ARG | LYS | VAR_019295 |
rs2227983
|
LB/B | - | - | |
497_ARG | LYS |
gnomAD chr7:55229255 |
rs2227983
|
- | 0.292102 | - | |
497_ARG | LYS |
8.3kJPN chr7:55229255 |
rs2227983
|
- | 0.6191 | - | |
503_ARG | GLN |
gnomAD chr7:55229273 |
rs150477666
|
- | 0.000131221 | - | |
504_ASN | ASP |
8.3kJPN chr7:55229275 |
rs762336338
|
- | 0.0001 | - | |
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] | |
522_PRO | SER |
ClinVar chr7:55231430 |
rs1057519830
|
Likely pathogenic | - | Head and neck neoplasm [Human Phenotype Ontology:HP:0012288,MONDO:MONDO:0005586,MeSH:D006258,MedGen:C0018671] | |
532_ILE | VAL |
8.3kJPN chr7:55231460 |
-
|
- | 0.0001 | - | |
568_VAL | ILE |
gnomAD chr7:55233024 |
rs144943614
|
- | 0.000306253 | - | |
568_VAL | ILE |
8.3kJPN chr7:55233024 |
rs144943614
|
- | 0.0001 | - | |
570_THR | ALA |
8.3kJPN chr7:55233030 |
-
|
- | 0.0002 | - | |
572_PRO | SER |
ClinVar chr7:55233036 |
-
|
Pathogenic | - | Malignant tumor of urinary bladder [MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980] | |
574_GLY | VAL |
ClinVar chr7:55233043 |
rs139236063
|
Likely pathogenic | - | Brainstem glioma|Neoplasm of brain|Glioblastoma [Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360] | |
574_GLY | ALA |
ClinVar chr7:55233043 |
rs139236063
|
Likely pathogenic | - | Neoplasm of brain|Brainstem glioma|Glioblastoma [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360] | |
574_GLY | ARG |
ClinVar chr7:55233042 |
-
|
Pathogenic | - | Malignant tumor of urinary bladder [MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980] | |
575_VAL | ALA |
8.3kJPN chr7:55233046 |
-
|
- | 0.0012 | - | |
590_GLY | SER |
8.3kJPN chr7:55233090 |
rs779076899
|
- | 0.0001 | - | |
595_LEU | ARG |
8.3kJPN chr7:55233106 |
-
|
- | 0.0001 | - |