| PDB ID | 1FIB
|
CHAIN | A |
|---|---|---|---|
| Protein name | GAMMA-FIBRINOGEN CARBOXYL TERMINAL FRAGMENT | ||
| Uniprot Accession | P02679 | ||
| The number of similar proteins | 49 | ||
| 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 |
6650830
P02675
P02671
|
| 5 |
P02675
P02679
P02671
|
| 6 |
P02675
P02671
Q48WD8
Q48WD8
|
|
Only interaction residues |
|
||||||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 150_GLY | GLU |
8.3kJPN chr4:155531224 - |
- | 0.0001 | 0.8959 | - | |
| 165_GLY | ARG |
VAR_014170
rs6063 |
LB/B | - | 0.734 | - | |
| 165_GLY | ARG |
gnomAD chr4:155530877 rs6063 |
- | 0.00281038 | 0.734 | - | |
| 199_ASP | GLU |
8.3kJPN chr4:155529794 - |
- | 0.0001 | 0.8539 | - | |
| 219_SER | PHE |
gnomAD chr4:155529735 rs145051028 |
- | 0.000127471 | 0.6227 | - | |
| 273_LYS | ASN |
8.3kJPN chr4:155528089 - |
- | 0.0001 | 0.2841 | - | |
| 275_ARG | CYS |
VAR_002409
rs121913087 |
LB/B | - | 0.7034 | - | |
| 275_ARG | HIS |
VAR_002410
rs121913088 |
LP/P | - | 0.4077 | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
| 275_ARG | CYS |
ClinVar chr4:155528085 rs121913087 |
Pathogenic/Likely pathogenic | - | 0.7034 | FIBRINOGEN TOKYO 2|Hypofibrinogenemia|Afibrinogenemia|Familial dysfibrinogenemia|not provided|FGG-related disorder [|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/Likely pathogenic | - | 0.4077 | FIBRINOGEN HAIFA 1|Hypofibrinogenemia|Familial dysfibrinogenemia|not provided|Congenital afibrinogenemia|Congenital afibrinogenemia [|Human Phenotype Ontology:HP:0011900,MedGen:C0553681|MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881|MedGen:C3661900|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880]; Familial dysfibrinogenemia [MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
| 275_ARG | SER |
ClinVar chr4:155528085 rs121913087 |
Pathogenic | - | 0.9526 | not provided [MedGen:C3661900] | |
| 277_THR | PRO |
VAR_072726
- |
LP/P | - | 0.6784 | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
| 292_GLY | VAL |
VAR_002411
rs121913089 |
LP/P | - | 0.984 | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
| 297_ASP | ASN |
8.3kJPN chr4:155528019 rs1046557134 |
- | 0.0001 | 0.2496 | - | |
| 301_ASP | HIS |
VAR_072727
- |
LP/P | - | 0.9657 | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
| 307_HIS | TYR |
ClinVar chr4:155527989 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 308_ASN | LYS |
VAR_002412
rs1578808538 |
LB/B | - | 0.6012 | - | |
| 308_ASN | ILE |
VAR_002413
rs121913090 |
LB/B | - | 0.4706 | - | |
| 309_GLY | ASP |
VAR_015853
- |
US | - | 0.7465 | - | |
| 310_MET | THR |
VAR_002414
rs121913091 |
LB/B | - | 0.8403 | - | |
| 310_MET | THR |
ClinVar chr4:155527979 rs121913091 |
Pathogenic/Likely pathogenic | - | 0.8403 | FIBRINOGEN ASAHI|not provided|Familial dysfibrinogenemia|FGG-related disorder [|MedGen:C3661900|MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881|] | |
| 310_MET | LEU |
ClinVar chr4:155527980 - |
Likely pathogenic | - | - | Familial dysfibrinogenemia [MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
| 313_SER | ARG |
ClinVar chr4:155527971 - |
Likely pathogenic | - | - | FGG-related disorder|not provided [|MedGen:C3661900] | |
| 314_THR | ILE |
ClinVar chr4:155527967 rs2530855860 |
Likely pathogenic | - | 0.9758 | not provided [MedGen:C3661900] | |
| 315_TRP | TER |
ClinVar chr4:155527964 rs1553965519 |
Pathogenic | - | - | Congenital afibrinogenemia [MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880] | |
| 316_ASP | ASN |
ClinVar chr4:155527962 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 318_ASP | ASN |
ClinVar chr4:155527956 rs1553965518 |
Likely pathogenic | - | 0.9035 | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
| 318_ASP | HIS |
ClinVar chr4:155527956 rs1553965518 |
Likely pathogenic | - | 0.9895 | Familial dysfibrinogenemia [MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
| 319_ASN | ASP |
VAR_072728
- |
LP/P | - | 0.7773 | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
| 320_ASP | GLY |
ClinVar chr4:155527949 rs2530855793 |
Likely pathogenic | - | - | Familial dysfibrinogenemia [MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
| 326_CYS | SER |
ClinVar chr4:155527932 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 329_GLN | ARG |
VAR_002416
rs121913092 |
LB/B | - | 0.794 | - | |
| 330_ASP | TYR |
VAR_002417
rs121913093 |
LB/B | - | 0.9312 | - | |
| 330_ASP | VAL |
VAR_002418
rs121913094 |
LP/P | - | 0.9601 | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
| 330_ASP | GLY |
ClinVar chr4:155527919 rs121913094 |
Likely pathogenic | - | 0.9502 | Familial dysfibrinogenemia [MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
| 337_ASN | LYS |
VAR_002419
- |
US | - | 0.983 | - | |
| 354_TYR | TER |
ClinVar chr4:155526208 - |
Likely pathogenic | - | - | Congenital afibrinogenemia [MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880] | |
| 358_SER | CYS |
VAR_002421
- |
US | - | 0.563 | - | |
| 365_ASN | ILE |
ClinVar chr4:155526176 rs2530852957 |
Likely pathogenic | - | 0.9707 | not provided [MedGen:C3661900] | |
| 375_ARG | GLY |
VAR_002422
rs75848804 |
LB/B | - | 0.9377 | - | |
| 375_ARG | TRP |
VAR_072729
rs75848804 |
LP/P | - | 0.8065 | Congenital afibrinogenemia (CAFBN) [MIM:202400] | |
| 375_ARG | TRP |
ClinVar chr4:155526147 rs75848804 |
Pathogenic | - | 0.8065 | Hereditary spastic paraplegia 4|Congenital afibrinogenemia [MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880]; Familial dysfibrinogenemia [MONDO:MONDO:0014452,MedGen:C0272350,OMIM:616004,Orphanet:335,Orphanet:98881] | |
| 378_SER | PRO |
VAR_072621
rs587777720 |
LP/P | - | 0.9908 | Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] | |
| 384_MET | VAL |
VAR_014171
rs6061 |
LB/B | - | 0.2979 | - | |
| 385_LYS | THR |
8.3kJPN chr4:155526116 rs200444079 |
- | 0.0001 | 0.9251 | - |