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

Coloring

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  

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Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   VQIHDITGKD   CQDIANKGAK   QSGLYFIKPL   KANQQFLVYC   EIDGSGNGWT   50
51   VFQKRLDGSV   DFKKNWIQYK   EGFGHLSPTG   TTEFWLGNEK   IHLISTQSAI   100
101   PYALRVELED   WNGRTSTADY   AMFKVGPEAD   KYRLTYAYFA   GGDAGDAFDG   150
151   FDFGDDPSDK   FFTSHNGMQF   STWDNDNDKF   EGNCAEQDGS   GWWMNKCHAG   200
201   HLNGVYYQGG   TYSKASTPNG   YDNGIIWATW   KTRWYSMKKT   TMKIIPFNRL   250
251   TIGEGQQHHL   GGAKQAGDV         300

Variants

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 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.