PDB ID | 1FIB
|
CHAIN | A |
---|---|---|---|
Protein name | GAMMA-FIBRINOGEN CARBOXYL TERMINAL FRAGMENT | ||
Uniprot Accession | P02679 | ||
The number of similar proteins | 47 | ||
The number of binding states | 6 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1FIB (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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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
150_GLY | GLU |
8.3kJPN chr4:155531224 |
-
|
- | 0.0001 | - | |
165_GLY | ARG | VAR_014170 |
rs6063
|
Polymorphism | - | - | |
165_GLY | ARG |
ClinVar chr4:155530877 |
rs6063
|
Pathogenic | - | Fibrinogen Milano XII, digenic [MedGen:C4016097] | |
165_GLY | ARG |
gnomAD chr4:155530877 |
rs6063
|
- | 0.00281038 | - | |
199_ASP | GLU |
8.3kJPN chr4:155529794 |
-
|
- | 0.0001 | - | |
219_SER | PHE |
gnomAD chr4:155529735 |
rs145051028
|
- | 0.000127471 | - | |
273_LYS | ASN |
8.3kJPN chr4:155528089 |
-
|
- | 0.0001 | - | |
275_ARG | CYS | VAR_002409 |
rs121913087
|
Polymorphism | - | - | |
275_ARG | HIS | VAR_002410 |
rs121913088
|
Disease | - | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
277_THR | PRO | VAR_072726 |
-
|
Disease | - | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
292_GLY | VAL | VAR_002411 |
rs121913089
|
Disease | - | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
297_ASP | ASN |
8.3kJPN chr4:155528019 |
rs1046557134
|
- | 0.0001 | - | |
301_ASP | HIS | VAR_072727 |
-
|
Disease | - | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
308_ASN | LYS | VAR_002412 |
-
|
Unclassified | - | - | |
308_ASN | ILE | VAR_002413 |
rs121913090
|
Polymorphism | - | - | |
309_GLY | ASP | VAR_015853 |
-
|
Unclassified | - | - | |
310_MET | THR | VAR_002414 |
rs121913091
|
Polymorphism | - | - | |
315_TRP | TER |
ClinVar chr4:155527964 |
rs1553965519
|
Pathogenic | - | Afibrinogenemia, congenital [MedGen:C2584774,OMIM:202400,Orphanet:ORPHA98880] | |
319_ASN | ASP | VAR_072728 |
-
|
Disease | - | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
329_GLN | ARG | VAR_002416 |
rs121913092
|
Polymorphism | - | - | |
330_ASP | TYR | VAR_002417 |
rs121913093
|
Polymorphism | - | - | |
330_ASP | VAL | VAR_002418 |
rs121913094
|
Disease | - | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
337_ASN | LYS | VAR_002419 |
-
|
Unclassified | - | - | |
358_SER | CYS | VAR_002421 |
-
|
Unclassified | - | - | |
375_ARG | GLY | VAR_002422 |
rs75848804
|
Polymorphism | - | - | |
375_ARG | TRP | VAR_072729 |
rs75848804
|
Disease | - | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
378_SER | PRO | VAR_072621 |
rs587777720
|
Disease | - | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
378_SER | PRO |
ClinVar chr4:155526138 |
rs587777720
|
Pathogenic | - | Hypodysfibrinogenemia [MedGen:C0472803,SNOMED CT:234458004] | |
384_MET | VAL | VAR_014171 |
rs6061
|
Polymorphism | - | - | |
385_LYS | THR |
8.3kJPN chr4:155526116 |
rs200444079
|
- | 0.0001 | - |