PDB ID | 3CAF
|
CHAIN | A |
---|---|---|---|
Protein name | Fibroblast growth factor receptor 2 | ||
Uniprot Accession | P21802 | ||
The number of similar proteins | 6 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3CAF (CHAIN: A) | |
1 |
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2 | Monomeric state |
3 |
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4 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
166_LEU | SER |
ClinVar chr8:38285566 |
rs397515481
|
Pathogenic | - | Hartsfield syndrome [MedGen:C1845146,OMIM:615465,Orphanet:ORPHA2117] | |
168_ALA | SER |
ClinVar chr8:38285561 |
rs121909630
|
Pathogenic | - | Hypogonadotropic hypogonadism 2 with anosmia [MedGen:C4016104] | |
172_ALA | PHE | VAR_017259 |
-
|
Disease | - | Pfeiffer syndrome (PS) [MIM:101600] | |
178_ARG | HIS |
8.3kJPN chr10:123310895 |
rs141796960
|
- | 0.0001 | - | |
178_ARG | CYS |
8.3kJPN chr10:123310896 |
rs974173968
|
- | 0.0001 | - | |
186_MET | THR | VAR_017260 |
rs755793
|
Polymorphism | - | - | |
186_MET | THR |
gnomAD chr10:123310871 |
rs755793
|
- | 0.0454242 | - | |
186_MET | THR |
8.3kJPN chr10:123310871 |
rs755793
|
- | 0.0647 | - | |
186_MET | VAL |
8.3kJPN chr10:123310872 |
rs55977237
|
- | 0.0002 | - | |
190_ARG | CYS |
ClinVar chr8:38285495 |
rs863223331
|
Pathogenic | - | Kallmann syndrome 2 [MedGen:C1563720,OMIM:147950] | |
190_ARG | GLN |
8.3kJPN chr10:123310859 |
rs759750319
|
- | 0.0001 | - | |
190_ARG | TRP |
8.3kJPN chr10:123310860 |
rs147987917
|
- | 0.0001 | - | |
192_LEU | SER |
ClinVar chr8:38285488 |
rs869025669
|
Pathogenic | - | Hartsfield syndrome [MedGen:C1845146,OMIM:615465,Orphanet:ORPHA2117] | |
203_ARG | CYS | VAR_036380 |
-
|
Unclassified | - | Breast cancer samples | |
210_ARG | CYS |
ClinVar chr8:38283760 |
rs1554564353
|
Likely pathogenic | - | Kallmann syndrome 2 [MedGen:C1563720,OMIM:147950] |