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 | P02679 |
3 | P02675 P02671 |
4 | P02675 6650830 P02671 |
5 | P02675 P02679 P02671 |
6 | P02675 P02671 Q48WD8 Q48WD8 |
Only interaction residues |
|
||||||||||||
|
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
|
LB/B | - | - | |
165_GLY | ARG |
gnomAD chr4:155530877 |
rs6063
|
- | 0.00281038 | - | |
199_ASP | GLU |
8.3kJPN chr4:155529794 |
-
|
- | 0.0001 | - | |
200_GLY | VAL |
ClinVar chr4:155529792 |
rs1310452604
|
Likely pathogenic | - | Hypofibrinogenemia|Familial dysfibrinogenemia [Human Phenotype Ontology:HP:0011900,MedGen:C0553681|MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
219_SER | PHE |
gnomAD chr4:155529735 |
rs145051028
|
- | 0.000127471 | - | |
273_LYS | ASN |
8.3kJPN chr4:155528089 |
-
|
- | 0.0001 | - | |
275_ARG | CYS | VAR_002409 |
rs121913087
|
LB/B | - | - | |
275_ARG | HIS | VAR_002410 |
rs121913088
|
LP/P | - | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
275_ARG | CYS |
ClinVar chr4:155528085 |
rs121913087
|
Pathogenic/Likely pathogenic | - | FIBRINOGEN TOKYO 2|Hypofibrinogenemia|Afibrinogenemia|Familial dysfibrinogenemia|not provided [|Human Phenotype Ontology:HP:0011900,MedGen:C0553681|Human Phenotype Ontology:HP:0034287,MeSH:D000347,MedGen:C0001733,Orphanet:200418|MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881|MedGen:C3661900] | |
275_ARG | HIS |
ClinVar chr4:155528084 |
rs121913088
|
Pathogenic | - | FIBRINOGEN HAIFA 1|Hypofibrinogenemia|Familial dysfibrinogenemia|not provided [|Human Phenotype Ontology:HP:0011900,MedGen:C0553681|MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881|MedGen:C3661900] | |
275_ARG | SER |
ClinVar chr4:155528085 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
277_THR | PRO | VAR_072726 |
-
|
LP/P | - | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
292_GLY | VAL | VAR_002411 |
rs121913089
|
LP/P | - | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
297_ASP | ASN |
8.3kJPN chr4:155528019 |
rs1046557134
|
- | 0.0001 | - | |
301_ASP | HIS | VAR_072727 |
-
|
LP/P | - | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
308_ASN | LYS | VAR_002412 |
-
|
US | - | - | |
308_ASN | ILE | VAR_002413 |
rs121913090
|
LB/B | - | - | |
309_GLY | ASP | VAR_015853 |
-
|
US | - | - | |
310_MET | THR | VAR_002414 |
rs121913091
|
LB/B | - | - | |
310_MET | THR |
ClinVar chr4:155527979 |
rs121913091
|
Pathogenic | - | FIBRINOGEN ASAHI|Familial dysfibrinogenemia|FGG-related condition [|MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881|] | |
314_THR | ILE |
ClinVar chr4:155527967 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
315_TRP | TER |
ClinVar chr4:155527964 |
rs1553965519
|
Pathogenic | - | Congenital afibrinogenemia [MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880] | |
318_ASP | ASN |
ClinVar chr4:155527956 |
rs1553965518
|
Likely pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
318_ASP | HIS |
ClinVar chr4:155527956 |
-
|
Likely pathogenic | - | Familial dysfibrinogenemia [MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
319_ASN | ASP | VAR_072728 |
-
|
LP/P | - | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
329_GLN | ARG | VAR_002416 |
rs121913092
|
LB/B | - | - | |
330_ASP | TYR | VAR_002417 |
rs121913093
|
LB/B | - | - | |
330_ASP | VAL | VAR_002418 |
rs121913094
|
LP/P | - | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
330_ASP | GLY |
ClinVar chr4:155527919 |
-
|
Likely pathogenic | - | Familial dysfibrinogenemia [MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
336_MET | ILE |
ClinVar chr4:155527900 |
rs2110841438
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
337_ASN | LYS | VAR_002419 |
-
|
US | - | - | |
358_SER | CYS | VAR_002421 |
-
|
US | - | - | |
365_ASN | ILE |
ClinVar chr4:155526176 |
-
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
375_ARG | GLY | VAR_002422 |
rs75848804
|
LB/B | - | - | |
375_ARG | TRP | VAR_072729 |
rs75848804
|
LP/P | - | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
375_ARG | TRP |
ClinVar chr4:155526147 |
-
|
Pathogenic | - | Hereditary spastic paraplegia 4 [MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985] | |
378_SER | PRO | VAR_072621 |
rs587777720
|
LP/P | - | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
384_MET | VAL | VAR_014171 |
rs6061
|
LB/B | - | - | |
385_LYS | THR |
8.3kJPN chr4:155526116 |
rs200444079
|
- | 0.0001 | - |